U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

PGAP2 post-GPI attachment to proteins 2 [ Homo sapiens (human) ]

Gene ID: 27315, updated on 3-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
PGAP2provided by HGNC
Official Full Name
post-GPI attachment to proteins 2provided by HGNC
Primary source
HGNC:HGNC:17893
See related
Ensembl:ENSG00000148985 MIM:615187; AllianceGenome:HGNC:17893
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
FRAG1; MRT17; MRT21; HPMRS3; CWH43-N
Summary
The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Mutations in this gene are associated with an autosomal recessive syndrome characterized by hyperphosphatasia and intellectual disability. [provided by RefSeq, Jul 2017]
Expression
Ubiquitous expression in skin (RPKM 10.4), testis (RPKM 5.4) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See PGAP2 in Genome Data Viewer
Location:
11p15.4
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (3797724..3826371)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (3863061..3891698)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (3818954..3847601)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene nucleoporin 98 and 96 precursor Neighboring gene RNA, U6 small nuclear 1143, pseudogene Neighboring gene nucleoporin 98kDa recombination region Neighboring gene MPRA-validated peak1178 silencer Neighboring gene MPRA-validated peak1179 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3811721-3812640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:3812641-3813558 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3082 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3083 Neighboring gene RNA, U7 small nuclear 50 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3084 Neighboring gene uncharacterized LOC124902618 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:3841189-3841380 Neighboring gene uncharacterized LOC124902619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4310 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4311 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:3876149-3877094 Neighboring gene STIM1 antisense RNA 1 Neighboring gene ras homolog family member G Neighboring gene stromal interaction molecule 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: 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

Go to the top of the pageHelp

Related articles in PubMed

  1. A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder. Thompson MD, et al. Eur J Med Genet, 2020 Apr. PMID 31805394
  2. A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers. Perez Y, et al. Biomed Res Int, 2017. PMID 29119105, Free PMC Article
  3. Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes. Jezela-Stanek A, et al. Eur J Paediatr Neurol, 2016 May. PMID 26879448
  4. PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. Krawitz PM, et al. Am J Hum Genet, 2013 Apr 4. PMID 23561847, Free PMC Article
  5. Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Hansen L, et al. Am J Hum Genet, 2013 Apr 4. PMID 23561846, Free PMC Article

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder.
    Title: A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder.
  2. A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers.
    Title: A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers.
  3. PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
    Title: PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
  4. Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
    Title: Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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
Hyperphosphatasia with intellectual disability syndrome 3
MedGen: C3280153 OMIM: 614207 GeneReviews: Not available
Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction Pubs
Knockdown of post-GPI attachment to proteins 2 (PGAP2) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC799, FLJ26520

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in GPI anchor biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in GPI anchor biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in GPI anchor biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in Golgi membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
post-GPI attachment to proteins factor 2
Names
FGF receptor activating protein 1
cell wall biogenesis 43 N-terminal homolog

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_051812.1 RefSeqGene

    Range
    5001..33648
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145438.2 → NP_001138910.1  post-GPI attachment to proteins factor 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, lacks an alternate in-frame exon in the central coding region, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) has a distinct and longer N-terminus but is overall shorter than isoform 1.
    Source sequence(s)
    AF159615, AL096753, BC009930, DA287291
    Consensus CDS
    CCDS44523.1
    UniProtKB/Swiss-Prot
    Q9UHJ9
    Related
    ENSP00000300730.6, ENST00000300730.10
    Conserved Domains (1) summary
    pfam10277
    Location:75 → 294
    Frag1; Frag1/DRAM/Sfk1 family

  2. NM_001256235.1 → NP_001243164.1  post-GPI attachment to proteins factor 2 isoform 3

    See identical proteins and their annotated locations for NP_001243164.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF159615, AL096753
    Consensus CDS
    CCDS73245.1
    UniProtKB/TrEMBL
    A0A0A0MS75
    Related
    ENSP00000380188.3, ENST00000396991.6
    Conserved Domains (1) summary
    pfam10277
    Location:75 → 259
    Frag1; Frag1/DRAM/Sfk1 family

  3. NM_001256236.1 → NP_001243165.1  post-GPI attachment to proteins factor 2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AF159615, AK292181, AL096753, DA287291
    UniProtKB/Swiss-Prot
    Q9UHJ9
    Conserved Domains (1) summary
    pfam10277
    Location:136 → 359
    Frag1; Frag1/DRAM/Sfk1 family

  4. NM_001256237.1 → NP_001243166.1  post-GPI attachment to proteins factor 2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) contains alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, lacks an alternate in-frame exon in the central coding region, and uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (5) has distinct N- and C-termini and is shorter than isoform 1.
    Source sequence(s)
    AF159615, AL096753, BG707484, BI772237, DA287291
    UniProtKB/Swiss-Prot
    Q9UHJ9
    Conserved Domains (1) summary
    pfam10277
    Location:75 → 235
    Frag1; Frag1/DRAM/Sfk1 family

  5. NM_001256238.1 → NP_001243167.1  post-GPI attachment to proteins factor 2 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) differs in the 5' UTR, lacks an alternate in-frame exon in the 5' coding region, and uses an alternate splice site that causes a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (6) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AF159615, AK295202, AL096753, BX379511
    Consensus CDS
    CCDS58113.1
    UniProtKB/TrEMBL
    H0YDJ5
    Related
    ENSP00000431851.1, ENST00000493547.6
    Conserved Domains (1) summary
    pfam10277
    Location:18 → 178
    Frag1; Frag1/DRAM/Sfk1 family

  6. NM_001256239.2 → NP_001243168.1  post-GPI attachment to proteins factor 2 isoform 7

    See identical proteins and their annotated locations for NP_001243168.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) lacks an alternate in-frame exon in the 5' coding region, and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (7) is shorter than isoform 1. Variants 11 and 27 both encode the same isoform (7).
    Source sequence(s)
    AF159615, AL096753, BI911028, BX340489, CB988453
    UniProtKB/TrEMBL
    A0A0S2Z568, E9PQ19
    Related
    ENSP00000434507.1, ENST00000469307.4
    Conserved Domains (1) summary
    pfam10277
    Location:18 → 237
    Frag1; Frag1/DRAM/Sfk1 family

  7. NM_001256240.2 → NP_001243169.1  post-GPI attachment to proteins factor 2 isoform 8

    See identical proteins and their annotated locations for NP_001243169.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (8) that is shorter than isoform 1. Variants 12, 24, and 32 all encode the same isoform (8).
    Source sequence(s)
    AF159615, AL096753, BI768071, CB988453
    Consensus CDS
    CCDS58112.1
    UniProtKB/Swiss-Prot
    E9PJG5, H7BXL9, Q6UC77, Q96G66, Q9UF01, Q9UHJ9, Q9Y4N1
    UniProtKB/TrEMBL
    A0A024RCD5, E9PQ19
    Related
    ENSP00000435223.1, ENST00000463452.6
    Conserved Domains (1) summary
    pfam10277
    Location:18 → 241
    Frag1; Frag1/DRAM/Sfk1 family

  8. NM_001283038.1 → NP_001269967.1  post-GPI attachment to proteins factor 2 isoform 9

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17) contains an alternate 5' exon structure, and thus differs in the 5' UTR and 5' coding region, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (9) has a longer N-terminus but is overall shorter than isoform 1.
    Source sequence(s)
    AF159615, AL096753, BX356273, DA287291
    Consensus CDS
    CCDS73244.1
    UniProtKB/TrEMBL
    A8MYS5
    Related
    ENSP00000380183.2, ENST00000396986.6
    Conserved Domains (1) summary
    pfam10277
    Location:75 → 298
    Frag1; Frag1/DRAM/Sfk1 family

  9. NM_001283039.1 → NP_001269968.1  post-GPI attachment to proteins factor 2 isoform 10

    Status: REVIEWED

    Description
    Transcript Variant: This variant (18) uses an alternate exon structure in the 5' region compared to variant 1. The encoded isoform (10) is distinct and shorter, compared to isoform 1, but it shares regions in common with isoforms 5 and 7.
    Source sequence(s)
    AF159615, AK295202, AL096753, BX448155, CD675009, DA287291
    UniProtKB/Swiss-Prot
    Q9UHJ9
    UniProtKB/TrEMBL
    B7Z2X5

  10. NM_001283040.1 → NP_001269969.1  post-GPI attachment to proteins factor 2 isoform 11

    Status: REVIEWED

    Description
    Transcript Variant: This variant (19) uses an alternate exon structure in the 5' region compared to variant 1. The encoded isoform (11) is distinct and shorter, compared to isoform 1, but it shares regions in common with isoforms 5 and 7.
    Source sequence(s)
    AC090587, AF159615, AL096753, DA287291, HY171112
    UniProtKB/Swiss-Prot
    Q9UHJ9

  11. NM_001346397.2 → NP_001333326.1  post-GPI attachment to proteins factor 2 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AC090587
    UniProtKB/TrEMBL
    E9PQ19

  12. NM_001346398.2 → NP_001333327.1  post-GPI attachment to proteins factor 2 isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (24), as well as variants 12 and 32, encodes isoform 8.
    Source sequence(s)
    AC090587
    Consensus CDS
    CCDS58112.1
    UniProtKB/Swiss-Prot
    E9PJG5, H7BXL9, Q6UC77, Q96G66, Q9UF01, Q9UHJ9, Q9Y4N1
    UniProtKB/TrEMBL
    A0A024RCD5, E9PQ19
    Conserved Domains (1) summary
    pfam10277
    Location:18 → 241
    Frag1; Frag1/DRAM/Sfk1 family

  13. NM_001346399.2 → NP_001333328.1  post-GPI attachment to proteins factor 2 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AC090587
    Consensus CDS
    CCDS86172.1
    UniProtKB/TrEMBL
    B7Z2X5, H0YDC6
    Related
    ENSP00000433377.2, ENST00000532523.5

  14. NM_001346400.2 → NP_001333329.1  post-GPI attachment to proteins factor 2 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (27), as well as variant 11, encodes isoform 7.
    Source sequence(s)
    AC090587
    UniProtKB/TrEMBL
    A0A0S2Z568, E9PQ19
    Conserved Domains (1) summary
    pfam10277
    Location:18 → 237
    Frag1; Frag1/DRAM/Sfk1 family

  15. NM_001346401.2 → NP_001333330.1  post-GPI attachment to proteins factor 2 isoform 14

    Status: REVIEWED

    Source sequence(s)
    AC090587
    UniProtKB/TrEMBL
    H0YDC6

  16. NM_001346402.2 → NP_001333331.1  post-GPI attachment to proteins factor 2 isoform 15

    Status: REVIEWED

    Source sequence(s)
    AC090587

  17. NM_001346403.1 → NP_001333332.1  post-GPI attachment to proteins factor 2 isoform 16

    Status: REVIEWED

    Source sequence(s)
    AC090587

  18. NM_001346404.1 → NP_001333333.1  post-GPI attachment to proteins factor 2 isoform 17

    Status: REVIEWED

    Source sequence(s)
    AC090587
    Consensus CDS
    CCDS86171.1
    UniProtKB/TrEMBL
    H0YDJ5, H0YDQ4
    Related
    ENSP00000434088.2, ENST00000464261.5

  19. NM_001346405.1 → NP_001333334.1  post-GPI attachment to proteins factor 2 isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (32), as well as variants 12 and 24, encodes isoform 8.
    Source sequence(s)
    AC090587
    Consensus CDS
    CCDS58112.1
    UniProtKB/Swiss-Prot
    E9PJG5, H7BXL9, Q6UC77, Q96G66, Q9UF01, Q9UHJ9, Q9Y4N1
    UniProtKB/TrEMBL
    A0A024RCD5, E9PQ19
    Conserved Domains (1) summary
    pfam10277
    Location:18 → 241
    Frag1; Frag1/DRAM/Sfk1 family

  20. NM_014489.4 → NP_055304.1  post-GPI attachment to proteins factor 2 isoform 1

    See identical proteins and their annotated locations for NP_055304.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AF159615, AL096753
    Consensus CDS
    CCDS7747.1
    Related
    ENSP00000278243.4, ENST00000278243.9
    Conserved Domains (1) summary
    pfam10277
    Location:79 → 302
    Frag1; Frag1/DRAM/Sfk1 family

RNA

  1. NR_027016.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a significant portion of the coding region, including the translational start codon, as found in variant 1.
    Source sequence(s)
    AF159615, AL096753, CB988453, CX872317
    Related
    ENST00000496834.6

  2. NR_027017.4 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses alternate exon structure in both the 5' and 3' regions, compared to variant 1. This variant is represented as non-coding because translation of the predicted in-frame ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC090587

  3. NR_027018.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) uses alternate exon structure in both the 5' and central regions, compared to variant 1. This variant is represented as non-coding because it lacks a significant portion of the coding region, including the translational start codon, as found in variant 1.
    Source sequence(s)
    AF159615, AK295202, AL096753

  4. NR_045923.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses alternate exon structure in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF159615, AK307359, AL096753, DA287291
    Related
    ENST00000396993.8

  5. NR_045925.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13) uses alternate exon structure in both the 5' and 3' regions, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF159615, AL096753, BG468212, DA287291

  6. NR_045926.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) uses alternate exon structure in the 5' region, and lacks two exons in the central region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF159615, AL096753, AL558360, DA287291
    Related
    ENST00000477358.6

  7. NR_045927.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15) uses alternate exon structure in the 5', central and 3' regions, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF159615, AL096753, BG707484, DA287291

  8. NR_045929.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16) uses alternate exon structure in the 5', central and 3' regions, compared to variant 1. This variant is represented as non-coding because it lacks a significant portion of the coding region, including the translational start codon, as found in variant 1.
    Source sequence(s)
    AF159615, AL096753, BI759334, CB988453

  9. NR_104270.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (20) uses an alternate exon structure in the 5' and central regions and an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF159615, AL096753, CD675113, DA287291

  10. NR_104271.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (21) uses an alternate exon structure in the 5' and central regions and an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF159615, AL096753, BI858175, BI911526, DA287291
    Related
    ENST00000528216.5

  11. NR_104272.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (22) lacks two alternate internal exons and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AF159615, AL096753, CB988453

  12. NR_144427.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC090587

  13. NR_144428.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC090587

  14. NR_144429.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC090587

  15. NR_144430.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC090587

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    3797724..3826371
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519992.2 → XP_011518294.1  post-GPI attachment to proteins factor 2 isoform X3

    Conserved Domains (1) summary
    pfam10277
    Location:174 → 358
    Frag1; Frag1/DRAM/Sfk1 family

  2. XM_047426778.1 → XP_047282734.1  post-GPI attachment to proteins factor 2 isoform X6

  3. XM_011519996.2 → XP_011518298.1  post-GPI attachment to proteins factor 2 isoform X8

    Conserved Domains (1) summary
    pfam10277
    Location:158 → 342
    Frag1; Frag1/DRAM/Sfk1 family

  4. XM_047426777.1 → XP_047282733.1  post-GPI attachment to proteins factor 2 isoform X5

  5. XM_047426780.1 → XP_047282736.1  post-GPI attachment to proteins factor 2 isoform X10

  6. XM_047426786.1 → XP_047282742.1  post-GPI attachment to proteins factor 2 isoform X19

  7. XM_006718185.3 → XP_006718248.1  post-GPI attachment to proteins factor 2 isoform X14

    Conserved Domains (1) summary
    pfam10277
    Location:84 → 268
    Frag1; Frag1/DRAM/Sfk1 family

  8. XM_047426782.1 → XP_047282738.1  post-GPI attachment to proteins factor 2 isoform X15

  9. XM_047426784.1 → XP_047282740.1  post-GPI attachment to proteins factor 2 isoform X17

  10. XM_047426785.1 → XP_047282741.1  post-GPI attachment to proteins factor 2 isoform X18

  11. XM_047426789.1 → XP_047282745.1  post-GPI attachment to proteins factor 2 isoform X21

    UniProtKB/TrEMBL
    B7Z2X5
    Related
    ENSP00000434401.1, ENST00000465307.6

  12. XM_047426792.1 → XP_047282748.1  post-GPI attachment to proteins factor 2 isoform X22

  13. XM_011519998.3 → XP_011518300.1  post-GPI attachment to proteins factor 2 isoform X9

    See identical proteins and their annotated locations for XP_011518300.1

    Conserved Domains (1) summary
    pfam10277
    Location:152 → 336
    Frag1; Frag1/DRAM/Sfk1 family

  14. XM_011520004.3 → XP_011518306.2  post-GPI attachment to proteins factor 2 isoform X13

  15. XM_047426788.1 → XP_047282744.1  post-GPI attachment to proteins factor 2 isoform X20

  16. XM_047426793.1 → XP_047282749.1  post-GPI attachment to proteins factor 2 isoform X23

  17. XM_011519999.2 → XP_011518301.1  post-GPI attachment to proteins factor 2 isoform X9

    See identical proteins and their annotated locations for XP_011518301.1

    Conserved Domains (1) summary
    pfam10277
    Location:152 → 336
    Frag1; Frag1/DRAM/Sfk1 family

  18. XM_011519990.3 → XP_011518292.3  post-GPI attachment to proteins factor 2 isoform X1

    Related
    ENSP00000434631.2, ENST00000464906.6

  19. XM_011519991.3 → XP_011518293.3  post-GPI attachment to proteins factor 2 isoform X2

  20. XM_024448444.2 → XP_024304212.1  post-GPI attachment to proteins factor 2 isoform X16

    Conserved Domains (1) summary
    pfam10277
    Location:75 → 255
    Frag1; Frag1/DRAM/Sfk1 family

  21. XM_011520002.2 → XP_011518304.1  post-GPI attachment to proteins factor 2 isoform X11

    See identical proteins and their annotated locations for XP_011518304.1

    UniProtKB/TrEMBL
    A0A0S2Z568, E9PQ19
    Conserved Domains (1) summary
    pfam10277
    Location:18 → 237
    Frag1; Frag1/DRAM/Sfk1 family

  22. XM_047426779.1 → XP_047282735.1  post-GPI attachment to proteins factor 2 isoform X7

  23. XM_047426787.1 → XP_047282743.1  post-GPI attachment to proteins factor 2 isoform X19

  24. XM_047426776.1 → XP_047282732.1  post-GPI attachment to proteins factor 2 isoform X4

  25. XM_047426781.1 → XP_047282737.1  post-GPI attachment to proteins factor 2 isoform X2

  26. XM_024448443.2 → XP_024304211.1  post-GPI attachment to proteins factor 2 isoform X16

    Conserved Domains (1) summary
    pfam10277
    Location:75 → 255
    Frag1; Frag1/DRAM/Sfk1 family

  27. XM_047426790.1 → XP_047282746.1  post-GPI attachment to proteins factor 2 isoform X21

    UniProtKB/TrEMBL
    B7Z2X5

  28. XM_006718181.4 → XP_006718244.1  post-GPI attachment to proteins factor 2 isoform X12

    Conserved Domains (1) summary
    pfam10277
    Location:80 → 303
    Frag1; Frag1/DRAM/Sfk1 family

  29. XM_047426783.1 → XP_047282739.1  post-GPI attachment to proteins factor 2 isoform X7

  30. XM_047426791.1 → XP_047282747.1  post-GPI attachment to proteins factor 2 isoform X21

    UniProtKB/TrEMBL
    B7Z2X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    3863061..3891698
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368437.1 → XP_054224412.1  post-GPI attachment to proteins factor 2 isoform X3

  2. XM_054368440.1 → XP_054224415.1  post-GPI attachment to proteins factor 2 isoform X6

  3. XM_054368442.1 → XP_054224417.1  post-GPI attachment to proteins factor 2 isoform X8

  4. XM_054368439.1 → XP_054224414.1  post-GPI attachment to proteins factor 2 isoform X5

  5. XM_054368445.1 → XP_054224420.1  post-GPI attachment to proteins factor 2 isoform X10

  6. XM_054368456.1 → XP_054224431.1  post-GPI attachment to proteins factor 2 isoform X19

  7. XM_054368450.1 → XP_054224425.1  post-GPI attachment to proteins factor 2 isoform X14

  8. XM_054368451.1 → XP_054224426.1  post-GPI attachment to proteins factor 2 isoform X15

  9. XM_054368454.1 → XP_054224429.1  post-GPI attachment to proteins factor 2 isoform X17

  10. XM_054368455.1 → XP_054224430.1  post-GPI attachment to proteins factor 2 isoform X18

  11. XM_054368459.1 → XP_054224434.1  post-GPI attachment to proteins factor 2 isoform X21

    UniProtKB/TrEMBL
    B7Z2X5

  12. XM_054368461.1 → XP_054224436.1  post-GPI attachment to proteins factor 2 isoform X22

  13. XM_054368443.1 → XP_054224418.1  post-GPI attachment to proteins factor 2 isoform X9

  14. XM_054368448.1 → XP_054224423.1  post-GPI attachment to proteins factor 2 isoform X13

  15. XM_054368458.1 → XP_054224433.1  post-GPI attachment to proteins factor 2 isoform X20

  16. XM_054368462.1 → XP_054224437.1  post-GPI attachment to proteins factor 2 isoform X23

  17. XM_054368444.1 → XP_054224419.1  post-GPI attachment to proteins factor 2 isoform X9

  18. XM_054368435.1 → XP_054224410.1  post-GPI attachment to proteins factor 2 isoform X1

  19. XM_054368436.1 → XP_054224411.1  post-GPI attachment to proteins factor 2 isoform X2

  20. XM_054368453.1 → XP_054224428.1  post-GPI attachment to proteins factor 2 isoform X16

  21. XM_054368446.1 → XP_054224421.1  post-GPI attachment to proteins factor 2 isoform X11

    UniProtKB/TrEMBL
    A0A0S2Z568

  22. XM_054368441.1 → XP_054224416.1  post-GPI attachment to proteins factor 2 isoform X7

  23. XM_054368457.1 → XP_054224432.1  post-GPI attachment to proteins factor 2 isoform X19

  24. XM_054368438.1 → XP_054224413.1  post-GPI attachment to proteins factor 2 isoform X4

  25. XM_054368449.1 → XP_054224424.1  post-GPI attachment to proteins factor 2 isoform X2

  26. XM_054368452.1 → XP_054224427.1  post-GPI attachment to proteins factor 2 isoform X16

  27. XM_054368460.1 → XP_054224435.1  post-GPI attachment to proteins factor 2 isoform X21

    UniProtKB/TrEMBL
    B7Z2X5

  28. XM_054368447.1 → XP_054224422.1  post-GPI attachment to proteins factor 2 isoform X12

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UHJ9.2 GenPept UniProtKB/Swiss-Prot:Q9UHJ9

Gene LinkOut

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

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous