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MYO7B myosin VIIB [ Homo sapiens (human) ]

Gene ID: 4648, updated on 2-Nov-2024

Summary

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Official Symbol
MYO7Bprovided by HGNC
Official Full Name
myosin VIIBprovided by HGNC
Primary source
HGNC:HGNC:7607
See related
Ensembl:ENSG00000169994 MIM:606541; AllianceGenome:HGNC:7607
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
Summary
The protein encoded by this gene is found in brush border microvilli of epithelial cells in the intestines and kidneys. The encoded protein is involved in linking protocadherins to the actin cytoskeleton and is essential for proper microvilli function. This protein aids in the accumulation of intermicrovillar adhesion components such as harmonin and ANKS4B, and this accumulation is necessary for normal brush border action. [provided by RefSeq, Jan 2017]
Expression
Biased expression in duodenum (RPKM 42.9), small intestine (RPKM 30.6) and 5 other tissues See more
Orthologs
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Genomic context

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See MYO7B in Genome Data Viewer
Location:
2q14.3
Exon count:
48
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (127535683..127637726)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (127970920..128072980)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (128293259..128395301)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128237383-128238334 Neighboring gene RNA, U4 small nuclear 48, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128272241-128272823 Neighboring gene interacts with SUPT6H, CTD assembly factor 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128283275-128283974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16492 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:128284386-128284559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16493 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128293291-128294141 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:128303085-128303585 Neighboring gene uncharacterized LOC105373609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16495 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128335179-128335732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16497 Neighboring gene uncharacterized LOC101927834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16498 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128393428-128394374 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128394375-128395321 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128395322-128396268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128396269-128397214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128406535-128407262 Neighboring gene Sharpr-MPRA regulatory region 7437 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128407989-128408715 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:128408716-128409441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128416288-128416788 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128419363-128420360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128420398-128420938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:128420939-128421478 Neighboring gene LIM zinc finger domain containing 2 Neighboring gene G protein-coupled receptor 17 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:128457593-128458792 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11936 Neighboring gene SFT2 domain containing 3 Neighboring gene WD repeat domain 33

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. The structure of the Myo7b CMF/USH1C PDZ complex provides mechanistic explanations for >20 deafness-causing mutations in Myo7a CMF. Taken together, these findings suggest that binding to PDZ domains, such as those from USH1C, PDZD7, and Whirlin, is a common property of CMFs of Myo7a, Myo7b, and Myo15a.
    Title: Structure of Myo7b/USH1C complex suggests a general PDZ domain binding mode by MyTH4-FERM myosins.
  2. Data revealed that six polymorphisms of F10, PITRM1, PCSK2, JPH3, MYO7B, and AKAP12 were related (P<0.05) to the prevalence of chronic kidney disease.
    Title: Association of gene polymorphisms with chronic kidney disease in Japanese individuals.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: New genetic associations detected in a host response study to hepatitis B vaccine.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp686A08248

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables microfilament motor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in actin filament-based movement IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in brush border assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in brush border assembly IPI
Inferred from Physical Interaction
more info
 PubMed 
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sensory organ development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sensory perception of sound IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in apical cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in brush border IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in microvillus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in microvillus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of myosin complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
unconventional myosin-VIIb

NCBI Reference Sequences (RefSeq)

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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_052848.1 RefSeqGene

    Range
    4995..107038
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080527.2 → NP_001073996.1  unconventional myosin-VIIb isoform 2

    See identical proteins and their annotated locations for NP_001073996.1

    Status: REVIEWED

    Source sequence(s)
    AC010976
    Consensus CDS
    CCDS46405.1
    UniProtKB/Swiss-Prot
    Q14786, Q6PIF6, Q8TEE1
    Related
    ENSP00000415090.1, ENST00000428314.5
    Conserved Domains (9) summary
    smart00015
    Location:785 → 807
    IQ; Calmodulin-binding motif
    smart00139
    Location:1644 → 1791
    MyTH4; Domain in Myosin and Kinesin Tails
    smart00242
    Location:60 → 759
    MYSc; Myosin. Large ATPases
    smart00295
    Location:1800 → 2012
    B41; Band 4.1 homologues
    cd13198
    Location:1406 → 1502
    FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)
    cd13199
    Location:2008 → 2103
    FERM_C2_MyoVII; FERM domain C-lobe, repeat 2, of Myosin VII (MyoVII, Myo7)
    cd01381
    Location:79 → 748
    MYSc_Myo7; class VII myosin, motor domain
    pfam00373
    Location:1910 → 2012
    FERM_M; FERM central domain
    cl17036
    Location:1503 → 1563
    SH3; Src Homology 3 domain superfamily

  2. NM_001393586.1 → NP_001380515.1  unconventional myosin-VIIb isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC010976
    Consensus CDS
    CCDS92860.1
    UniProtKB/TrEMBL
    A0A8C8KL71
    Related
    ENSP00000386461.3, ENST00000409816.8
    Conserved Domains (9) summary
    smart00015
    Location:785 → 807
    IQ; Calmodulin-binding motif
    smart00139
    Location:1670 → 1817
    MyTH4; Domain in Myosin and Kinesin Tails
    smart00295
    Location:1826 → 2038
    B41; Band 4.1 homologues
    cd13198
    Location:1432 → 1528
    FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)
    cd13199
    Location:2034 → 2129
    FERM_C2_MyoVII; FERM domain C-lobe, repeat 2, of Myosin VII (MyoVII, Myo7)
    cd01381
    Location:79 → 748
    MYSc_Myo7; class VII myosin, motor domain
    cd17092
    Location:1222 → 1320
    FERM1_F1_Myosin-VII; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain 1, F1 sub-domain, found in Myosin-VIIa, Myosin-VIIb, and similar proteins
    cd17093
    Location:1824 → 1921
    FERM2_F1_Myosin-VII; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain 2, F1 sub-domain, found in Myosin-VIIa, Myosin-VIIb, and similar proteins
    cl17036
    Location:1529 → 1589
    SH3; Src Homology 3 domain superfamily

  3. NM_001393594.1 → NP_001380523.1  unconventional myosin-VIIb isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC010976
    Consensus CDS
    CCDS92861.1
    UniProtKB/TrEMBL
    B0I1T4, B9A063
    Related
    ENSP00000386850.1, ENST00000409090.1
    Conserved Domains (8) summary
    smart00139
    Location:497 → 644
    MyTH4; Domain in Myosin and Kinesin Tails
    smart00295
    Location:653 → 865
    B41; Band 4.1 homologues
    cd13198
    Location:259 → 355
    FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)
    cd13199
    Location:861 → 956
    FERM_C2_MyoVII; FERM domain C-lobe, repeat 2, of Myosin VII (MyoVII, Myo7)
    cd17092
    Location:49 → 147
    FERM1_F1_Myosin-VII; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain 1, F1 sub-domain, found in Myosin-VIIa, Myosin-VIIb, and similar proteins
    cd17093
    Location:651 → 748
    FERM2_F1_Myosin-VII; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain 2, F1 sub-domain, found in Myosin-VIIa, Myosin-VIIb, and similar proteins
    cl02480
    Location:1 → 45
    MyTH4; MyTH4 domain
    cl17036
    Location:356 → 416
    SH3; Src Homology 3 domain superfamily

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
    127535683..127637726
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444437.1 → XP_047300393.1  unconventional myosin-VIIb isoform X3

  2. XM_011511218.3 → XP_011509520.1  unconventional myosin-VIIb isoform X6

    Conserved Domains (9) summary
    smart00015
    Location:785 → 807
    IQ; Calmodulin-binding motif
    smart00139
    Location:1673 → 1820
    MyTH4; Domain in Myosin and Kinesin Tails
    smart00242
    Location:60 → 759
    MYSc; Myosin. Large ATPases
    smart00295
    Location:1829 → 2041
    B41; Band 4.1 homologues
    cd13198
    Location:1435 → 1531
    FERM_C1_MyoVII; FERM domain C-lobe, repeat 1, of Myosin VII (MyoVII/Myo7)
    cd13199
    Location:2037 → 2132
    FERM_C2_MyoVII; FERM domain C-lobe, repeat 2, of Myosin VII (MyoVII, Myo7)
    cd01381
    Location:79 → 748
    MYSc_Myo7; class VII myosin, motor domain
    pfam00373
    Location:1939 → 2041
    FERM_M; FERM central domain
    cl17036
    Location:1532 → 1592
    SH3; Src Homology 3 domain superfamily

  3. XM_047444435.1 → XP_047300391.1  unconventional myosin-VIIb isoform X1

  4. XM_017004169.2 → XP_016859658.1  unconventional myosin-VIIb isoform X5

  5. XM_047444436.1 → XP_047300392.1  unconventional myosin-VIIb isoform X2

  6. XM_047444439.1 → XP_047300395.1  unconventional myosin-VIIb isoform X7

  7. XM_047444438.1 → XP_047300394.1  unconventional myosin-VIIb isoform X4

  8. XM_047444441.1 → XP_047300397.1  unconventional myosin-VIIb isoform X9

    Related
    ENST00000491278.5

  9. XM_047444440.1 → XP_047300396.1  unconventional myosin-VIIb isoform X8

RNA

  1. XR_001738748.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    127970920..128072980
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342163.1 → XP_054198138.1  unconventional myosin-VIIb isoform X3

  2. XM_054342166.1 → XP_054198141.1  unconventional myosin-VIIb isoform X6

  3. XM_054342161.1 → XP_054198136.1  unconventional myosin-VIIb isoform X1

  4. XM_054342165.1 → XP_054198140.1  unconventional myosin-VIIb isoform X5

  5. XM_054342162.1 → XP_054198137.1  unconventional myosin-VIIb isoform X2

  6. XM_054342167.1 → XP_054198142.1  unconventional myosin-VIIb isoform X7

  7. XM_054342164.1 → XP_054198139.1  unconventional myosin-VIIb isoform X4

  8. XM_054342169.1 → XP_054198144.1  unconventional myosin-VIIb isoform X9

  9. XM_054342168.1 → XP_054198143.1  unconventional myosin-VIIb isoform X8

RNA

  1. XR_008486372.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_183371.1: Suppressed sequence

    Description
    NM_183371.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6PIF6.2 GenPept UniProtKB/Swiss-Prot:Q6PIF6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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