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DYSF dysferlin [ Homo sapiens (human) ]

Gene ID: 8291, updated on 2-Nov-2024

Summary

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Official Symbol
DYSFprovided by HGNC
Official Full Name
dysferlinprovided by HGNC
Primary source
HGNC:HGNC:3097
See related
Ensembl:ENSG00000135636 MIM:603009; AllianceGenome:HGNC:3097
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MMD1; FER1L1; LGMD2B; LGMDR2
Summary
The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]
Expression
Broad expression in spleen (RPKM 14.1), placenta (RPKM 13.8) and 21 other tissues See more
Orthologs
mouse all
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Genomic context

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See DYSF in Genome Data Viewer
Location:
2p13.2
Exon count:
58
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (71453561..71686763)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (71464487..71699459)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (71680691..71913893)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16018 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:71558505-71559192 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:71559193-71559878 Neighboring gene Sharpr-MPRA regulatory region 7735 Neighboring gene zinc finger protein 638 Neighboring gene RNA, U6 small nuclear 105, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71643743-71644372 Neighboring gene Sharpr-MPRA regulatory region 6666 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:71672359-71672860 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:71678052-71678238 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71680549-71681398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71681399-71682247 Neighboring gene VISTA enhancer hs2170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71727399-71728077 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71730437-71730936 Neighboring gene Sharpr-MPRA regulatory region 7639 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:71733683-71734184 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:71734185-71734684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71739143-71739642 Neighboring gene NANOG hESC enhancer GRCh37_chr2:71754884-71755402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16019 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71780379-71780878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71779877-71780378 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71787253-71787780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71813506-71814014 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71814015-71814523 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71815560-71816140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71821207-71821706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71825151-71825652 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71825653-71826152 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:71829831-71831030 Neighboring gene VISTA enhancer hs1479 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71920591-71921090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71921091-71922090 Neighboring gene uncharacterized LOC124907827 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72018477-72019464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72021448-72022059 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:72057331-72058530 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:72070213-72070395 Neighboring gene Sharpr-MPRA regulatory region 1897 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:72107588-72108787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72120471-72120972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72120973-72121472 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:72124986-72125167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72157000-72157500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72159067-72159946 Neighboring gene ribosomal protein S20 pseudogene 10

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Dysferlin Enables Tubular Membrane Proliferation in Cardiac Hypertrophy.
    Title: Dysferlin Enables Tubular Membrane Proliferation in Cardiac Hypertrophy.
  2. Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy.
    Title: Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy.
  3. Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin.
    Title: Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin.
  4. Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.
    Title: Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.
  5. DYSF promotes monocyte activation in atherosclerotic cardiovascular disease as a DNA methylation-driven gene.
    Title: DYSF promotes monocyte activation in atherosclerotic cardiovascular disease as a DNA methylation-driven gene.
  6. Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective.
    Title: Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective.
  7. Null variants in DYSF result in earlier symptom onset.
    Title: Null variants in DYSF result in earlier symptom onset.
  8. Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis.
    Title: Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis.
  9. The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain.
    Title: The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain.
  10. Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients.
    Title: Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients.
Submit: New GeneRIF Correction See all GeneRIFs (133)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autosomal recessive limb-girdle muscular dystrophy type 2B
MedGen: C1850889 OMIM: 253601 GeneReviews: Dysferlinopathy
not available
Distal myopathy with anterior tibial onset
MedGen: C1847532 OMIM: 606768 GeneReviews: Not available
not available
Limb-girdle muscular dystrophy
MedGen: C0686353 GeneReviews: Not available
not available
Miyoshi muscular dystrophy 1
MedGen: C4551973 OMIM: 254130 GeneReviews: Dysferlinopathy
not available

EBI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
EBI GWAS Catalog
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of dysferlin, limb girdle muscular dystrophy 2B (DYSF) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of dysferlin (DYSF) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ00175, FLJ90168

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calcium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables calcium-dependent phospholipid binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables phospholipid binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within macrophage activation involved in immune response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within monocyte activation involved in immune response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within negative regulation of phagocytosis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of neurotransmitter secretion IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in T-tubule IDA
Inferred from Direct Assay
more info
 PubMed 
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
  
located_in cytoplasmic vesicle membrane TAS
Traceable Author Statement
more info
  
located_in early endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endocytic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
located_in late endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sarcolemma IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
dysferlin
Names
dystrophy-associated fer-1-like 1
fer-1-like family member 1
fer-1-like protein 1
limb girdle muscular dystrophy 2B (autosomal recessive)

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008694.1 RefSeqGene

    Range
    4939..238141
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_845

mRNA and Protein(s)

  1. NM_001130455.2 → NP_001123927.1  dysferlin isoform 2

    See identical proteins and their annotated locations for NP_001123927.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2 which is shorter than isoform 1.
    Source sequence(s)
    AC104084, AF075575, DB292971, DQ267935
    Consensus CDS
    CCDS46331.1
    UniProtKB/Swiss-Prot
    O75923
    Related
    ENSP00000377678.2, ENST00000394120.6
    Conserved Domains (11) summary
    cd04011
    Location:218 → 327
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1153 → 1281
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:381 → 555
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1580 → 1703
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1814 → 1945
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:947 → 1003
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:788 → 860
    FerB; FerB (NUC096) domain
    pfam08151
    Location:325 → 375
    FerI; FerI (NUC094) domain
    pfam08165
    Location:699 → 756
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1958 → 2044
    Ferlin_C; Ferlin C-terminus

  2. NM_001130976.2 → NP_001124448.1  dysferlin isoform 9

    See identical proteins and their annotated locations for NP_001124448.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (9) with an alternate N-terminus compared to isoform 1.
    Source sequence(s)
    AC104084, AI128455, AI192657, AK074649, DB292971, EU515156
    UniProtKB/Swiss-Prot
    O75923
    Conserved Domains (11) summary
    cd04011
    Location:217 → 326
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1138 → 1266
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:380 → 540
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1565 → 1688
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1799 → 1930
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:932 → 988
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:773 → 845
    FerB; FerB (NUC096) domain
    pfam08151
    Location:324 → 374
    FerI; FerI (NUC094) domain
    pfam08165
    Location:684 → 741
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1943 → 2029
    Ferlin_C; Ferlin C-terminus

  3. NM_001130977.2 → NP_001124449.1  dysferlin isoform 10

    See identical proteins and their annotated locations for NP_001124449.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (10) with an alternate N-terminus compared to isoform 1.
    Source sequence(s)
    AC104084, AI192657, AI739271, AK074649, DB292971, EU515159
    UniProtKB/Swiss-Prot
    O75923
    Conserved Domains (11) summary
    cd04011
    Location:217 → 326
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1138 → 1266
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:380 → 540
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1586 → 1709
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1820 → 1951
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:932 → 988
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:773 → 845
    FerB; FerB (NUC096) domain
    pfam08151
    Location:324 → 374
    FerI; FerI (NUC094) domain
    pfam08165
    Location:684 → 741
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1964 → 2050
    Ferlin_C; Ferlin C-terminus

  4. NM_001130978.2 → NP_001124450.1  dysferlin isoform 11

    See identical proteins and their annotated locations for NP_001124450.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (11) with an alternate N-terminus compared to isoform 1.
    Source sequence(s)
    AC104084, AI128455, AI192657, AK074649, DB292971, EU515157
    Consensus CDS
    CCDS46326.1
    UniProtKB/Swiss-Prot
    O75923
    Related
    ENSP00000398305.2, ENST00000429174.6
    Conserved Domains (12) summary
    cd04011
    Location:217 → 326
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1152 → 1280
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:380 → 554
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1600 → 1723
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1834 → 1965
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:946 → 1002
    DysFN; Dysferlin domain, N-terminal region
    COG5038
    Location:1173 → 1433
    COG5038; Ca2+-dependent lipid-binding protein, contains C2 domain [General function prediction only]
    pfam08150
    Location:786 → 859
    FerB; FerB (NUC096) domain
    pfam08151
    Location:324 → 374
    FerI; FerI (NUC094) domain
    pfam08165
    Location:695 → 759
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1978 → 2066
    Ferlin_C; Ferlin C-terminus

  5. NM_001130979.2 → NP_001124451.1  dysferlin isoform 12

    See identical proteins and their annotated locations for NP_001124451.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (12) with an alternate N-terminus compared to isoform 1.
    Source sequence(s)
    AC104084, AI128455, AI192657, AK074649, DB292971, EU515155
    Consensus CDS
    CCDS46323.1
    UniProtKB/Swiss-Prot
    O75923
    Related
    ENSP00000407046.2, ENST00000413539.6
    Conserved Domains (12) summary
    cd04011
    Location:248 → 357
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1183 → 1311
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:411 → 585
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1610 → 1733
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1844 → 1975
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:977 → 1033
    DysFN; Dysferlin domain, N-terminal region
    COG5038
    Location:1204 → 1464
    COG5038; Ca2+-dependent lipid-binding protein, contains C2 domain [General function prediction only]
    pfam08150
    Location:817 → 890
    FerB; FerB (NUC096) domain
    pfam08151
    Location:355 → 405
    FerI; FerI (NUC094) domain
    pfam08165
    Location:726 → 790
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1988 → 2076
    Ferlin_C; Ferlin C-terminus

  6. NM_001130980.2 → NP_001124452.1  dysferlin isoform 13

    See identical proteins and their annotated locations for NP_001124452.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (13) with an alternate N-terminus compared to isoform 1.
    Source sequence(s)
    AC104084, AI128455, AI192657, AK074649, DB292971, EU515158
    Consensus CDS
    CCDS46325.1
    UniProtKB/Swiss-Prot
    O75923
    Related
    ENSP00000387137.1, ENST00000409762.5
    Conserved Domains (12) summary
    cd04011
    Location:248 → 357
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1169 → 1297
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:411 → 571
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1596 → 1719
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1830 → 1961
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:963 → 1019
    DysFN; Dysferlin domain, N-terminal region
    COG5038
    Location:1190 → 1450
    COG5038; Ca2+-dependent lipid-binding protein, contains C2 domain [General function prediction only]
    pfam08150
    Location:803 → 876
    FerB; FerB (NUC096) domain
    pfam08151
    Location:355 → 405
    FerI; FerI (NUC094) domain
    pfam08165
    Location:712 → 776
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1974 → 2062
    Ferlin_C; Ferlin C-terminus

  7. NM_001130981.2 → NP_001124453.1  dysferlin isoform 14

    See identical proteins and their annotated locations for NP_001124453.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (14) with an alternate N-terminus compared to isoform 1.
    Source sequence(s)
    AC104084, AI128455, AI192657, AK074649, DB292971, EU515160
    Consensus CDS
    CCDS46324.1
    UniProtKB/Swiss-Prot
    O75923
    Related
    ENSP00000386547.3, ENST00000409582.7
    Conserved Domains (12) summary
    cd04011
    Location:248 → 357
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1169 → 1297
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:411 → 571
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1617 → 1740
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1851 → 1982
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:963 → 1019
    DysFN; Dysferlin domain, N-terminal region
    COG5038
    Location:1190 → 1450
    COG5038; Ca2+-dependent lipid-binding protein, contains C2 domain [General function prediction only]
    pfam08150
    Location:803 → 876
    FerB; FerB (NUC096) domain
    pfam08151
    Location:355 → 405
    FerI; FerI (NUC094) domain
    pfam08165
    Location:712 → 776
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1995 → 2083
    Ferlin_C; Ferlin C-terminus

  8. NM_001130982.2 → NP_001124454.1  dysferlin isoform 7

    See identical proteins and their annotated locations for NP_001124454.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 7 which is shorter than isoform 1.
    Source sequence(s)
    AC104084, AF075575, DB292971, EU515161
    Consensus CDS
    CCDS46327.1
    UniProtKB/Swiss-Prot
    O75923
    Related
    ENSP00000386683.1, ENST00000409651.5
    Conserved Domains (12) summary
    cd04011
    Location:249 → 358
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1184 → 1312
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:412 → 586
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1611 → 1734
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1845 → 1976
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:978 → 1034
    DysFN; Dysferlin domain, N-terminal region
    COG5038
    Location:1205 → 1465
    COG5038; Ca2+-dependent lipid-binding protein, contains C2 domain [General function prediction only]
    pfam08150
    Location:818 → 891
    FerB; FerB (NUC096) domain
    pfam08151
    Location:356 → 406
    FerI; FerI (NUC094) domain
    pfam08165
    Location:727 → 791
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1989 → 2077
    Ferlin_C; Ferlin C-terminus

  9. NM_001130983.2 → NP_001124455.1  dysferlin isoform 6

    See identical proteins and their annotated locations for NP_001124455.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 6 which is shorter than isoform 1.
    Source sequence(s)
    AC104084, AF075575, AK074649, DB292971, EU515157, EU515163
    Consensus CDS
    CCDS46330.1
    UniProtKB/Swiss-Prot
    O75923
    Related
    ENSP00000386512.1, ENST00000409366.5
    Conserved Domains (11) summary
    cd04011
    Location:218 → 327
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1153 → 1281
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:381 → 555
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1601 → 1724
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1835 → 1966
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:947 → 1003
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:788 → 860
    FerB; FerB (NUC096) domain
    pfam08151
    Location:325 → 375
    FerI; FerI (NUC094) domain
    pfam08165
    Location:699 → 756
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1979 → 2065
    Ferlin_C; Ferlin C-terminus

  10. NM_001130984.2 → NP_001124456.1  dysferlin isoform 5

    See identical proteins and their annotated locations for NP_001124456.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 5 which is shorter than isoform 1.
    Source sequence(s)
    AC104084, AF075575, AK074649, DB292971, EU515157, EU515165
    Consensus CDS
    CCDS46332.1
    UniProtKB/Swiss-Prot
    O75923
    Related
    ENSP00000386285.1, ENST00000409744.5
    Conserved Domains (12) summary
    cd04011
    Location:218 → 327
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1139 → 1267
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:381 → 541
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1587 → 1710
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1821 → 1952
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:933 → 989
    DysFN; Dysferlin domain, N-terminal region
    COG5038
    Location:1160 → 1420
    COG5038; Ca2+-dependent lipid-binding protein, contains C2 domain [General function prediction only]
    pfam08150
    Location:773 → 846
    FerB; FerB (NUC096) domain
    pfam08151
    Location:325 → 375
    FerI; FerI (NUC094) domain
    pfam08165
    Location:682 → 746
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1965 → 2053
    Ferlin_C; Ferlin C-terminus

  11. NM_001130985.2 → NP_001124457.1  dysferlin isoform 4

    See identical proteins and their annotated locations for NP_001124457.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 4 which is shorter than isoform 1.
    Source sequence(s)
    AC104084, AF075575, DB292971, EU515164
    Consensus CDS
    CCDS46329.1
    UniProtKB/Swiss-Prot
    O75923
    Related
    ENSP00000386617.1, ENST00000410041.1
    Conserved Domains (12) summary
    cd04011
    Location:249 → 358
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1170 → 1298
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:412 → 572
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1597 → 1720
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1831 → 1962
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:964 → 1020
    DysFN; Dysferlin domain, N-terminal region
    COG5038
    Location:1191 → 1451
    COG5038; Ca2+-dependent lipid-binding protein, contains C2 domain [General function prediction only]
    pfam08150
    Location:804 → 877
    FerB; FerB (NUC096) domain
    pfam08151
    Location:356 → 406
    FerI; FerI (NUC094) domain
    pfam08165
    Location:713 → 777
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1975 → 2063
    Ferlin_C; Ferlin C-terminus

  12. NM_001130986.2 → NP_001124458.1  dysferlin isoform 3

    See identical proteins and their annotated locations for NP_001124458.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 3 which is shorter than isoform 1.
    Source sequence(s)
    AC104084, AF075575, DB292971, EU515162
    UniProtKB/Swiss-Prot
    O75923
    Conserved Domains (11) summary
    cd04011
    Location:218 → 327
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1139 → 1267
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:381 → 541
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1566 → 1689
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1800 → 1931
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:933 → 989
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:774 → 846
    FerB; FerB (NUC096) domain
    pfam08151
    Location:325 → 375
    FerI; FerI (NUC094) domain
    pfam08165
    Location:685 → 742
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1944 → 2030
    Ferlin_C; Ferlin C-terminus

  13. NM_001130987.2 → NP_001124459.1  dysferlin isoform 1

    See identical proteins and their annotated locations for NP_001124459.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC104084, AF075575, AK074649, DB292971, EU515157, EU515166
    Consensus CDS
    CCDS46328.1
    UniProtKB/Swiss-Prot
    O75923
    Related
    ENSP00000386881.3, ENST00000410020.8
    Conserved Domains (12) summary
    cd04011
    Location:249 → 358
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1170 → 1298
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:412 → 572
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1618 → 1741
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1852 → 1983
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:964 → 1020
    DysFN; Dysferlin domain, N-terminal region
    COG5038
    Location:1191 → 1451
    COG5038; Ca2+-dependent lipid-binding protein, contains C2 domain [General function prediction only]
    pfam08150
    Location:804 → 877
    FerB; FerB (NUC096) domain
    pfam08151
    Location:356 → 406
    FerI; FerI (NUC094) domain
    pfam08165
    Location:713 → 777
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1996 → 2084
    Ferlin_C; Ferlin C-terminus

  14. NM_003494.4 → NP_003485.1  dysferlin isoform 8

    See identical proteins and their annotated locations for NP_003485.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (8) with an alternate N-terminus compared to isoform 1.
    Source sequence(s)
    AC104084, AF075575, AI128455, AI192657, DB292971
    Consensus CDS
    CCDS1918.1
    UniProtKB/Swiss-Prot
    A0FK00, B1PZ70, B1PZ71, B1PZ72, B1PZ73, B1PZ74, B1PZ75, B1PZ76, B1PZ77, B1PZ78, B1PZ79, B1PZ80, B1PZ81, B3KQB9, O75696, O75923, Q09EX5, Q0H395, Q53QY3, Q53TD2, Q8TEL8, Q9UEN7
    Related
    ENSP00000258104.3, ENST00000258104.8
    Conserved Domains (11) summary
    cd04011
    Location:217 → 326
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1152 → 1280
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:380 → 554
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1579 → 1702
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1813 → 1944
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:946 → 1002
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:787 → 859
    FerB; FerB (NUC096) domain
    pfam08151
    Location:324 → 374
    FerI; FerI (NUC094) domain
    pfam08165
    Location:698 → 755
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1957 → 2043
    Ferlin_C; Ferlin C-terminus

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    71453561..71686763
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    71464487..71699459
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75923.1 GenPept UniProtKB/Swiss-Prot:O75923

Gene LinkOut

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