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GOSR2 golgi SNAP receptor complex member 2 [ Homo sapiens (human) ]

Gene ID: 9570, updated on 7-Apr-2024

Summary

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Official Symbol
GOSR2provided by HGNC
Official Full Name
golgi SNAP receptor complex member 2provided by HGNC
Primary source
HGNC:HGNC:4431
See related
Ensembl:ENSG00000108433 MIM:604027; AllianceGenome:HGNC:4431
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
Bos1; EPM6; GS27; MYOS
Summary
This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. [provided by RefSeq, Mar 2016]
Expression
Ubiquitous expression in duodenum (RPKM 6.1), small intestine (RPKM 5.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
17q21.32
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (46923160..46975890)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (47784606..47837321)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (45000526..45044366)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 37 member A2 Neighboring gene uncharacterized LOC112268191 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45000502-45001226 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:45008344-45009543 Neighboring gene RNA, U6atac small nuclear 3, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45020222-45021158 Neighboring gene GOSR2 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 11668 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:45054724-45055404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45055405-45056084 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8620 Neighboring gene uncharacterized LOC101927060 Neighboring gene Sharpr-MPRA regulatory region 6393 Neighboring gene microRNA 5089 Neighboring gene leucine rich repeat containing 37 member A17, pseudogene Neighboring gene reprimo like Neighboring gene RNA, 7SL, cytoplasmic 270, pseudogene

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
  • 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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Related articles in PubMed

  1. Computational estimates of annular diameter reveal genetic determinants of mitral valve function and disease. Yu M, et al. JCI Insight, 2022 Feb 8. PMID 35132965, Free PMC Article
  2. GOSR2: a progressive myoclonus epilepsy gene. Dibbens LM, et al. Epileptic Disord, 2016 Sep 1. PMID 27618868
  3. SNAREs in the maturation and function of LROs. Jani RA, et al. Bioarchitecture, 2016. PMID 26760525, Free PMC Article
  4. Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation. van Egmond ME, et al. Mov Disord, 2014 Jan. PMID 24458321
  5. A haplotype of the GOSR2 gene is associated with myocardial infarction in Japanese men. Pan S, et al. Genet Test Mol Biomarkers, 2013 Jun. PMID 23675987, Free PMC Article

See all (65) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy.
    Title: Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy.
  2. Computational estimates of annular diameter reveal genetic determinants of mitral valve function and disease.
    Title: Computational estimates of annular diameter reveal genetic determinants of mitral valve function and disease.
  3. Recessive mutations in TRAPPC11 and GOSR2 are associated with congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan.
    Title: TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
  4. Molecular dynamics (MD) simulations showed that the hydrophobic core, which triggers SNARE complex formation, is compromised due to the glycine-to-tryptophan substitution in both GOSR2 and Bos1.
    Title: Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies.
  5. Mutations in GOSR2 reveal stringent secretory pathway demands of dendritic growth and synaptic integrity.
    Title: Mutations in Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity.
  6. review of the phenotype/genotype of GOSR2-associated progressive myoclonus epilepsy [review]
    Title: GOSR2: a progressive myoclonus epilepsy gene.
  7. The SNAREs(Soluble N-ethylmaleimide-sensitive factor attachment protein receptors), that regulate both the biogenesis and secretion of multiple lysosome-related organelles(LROs).
    Title: SNAREs in the maturation and function of LROs.
  8. Based on the presented phenotype, we would advise movement disorder specialists to consider mutation analysis of GOSR2 in patients with Ramsay Hunt syndrome, especially when they also have areflexia.
    Title: Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.
  9. A haplotype of the GOSR2 gene is associated with myocardial infarction in Japanese men
    Title: A haplotype of the GOSR2 gene is associated with myocardial infarction in Japanese men.
  10. Golgi vesicles, presumably with COPI, serve to inhibit intra-Golgi transport by the extraction of GS27 and GS28 from the Golgi cisternae, which blocks the formation of inter-cisternal connections
    Title: Segregation of the Qb-SNAREs GS27 and GS28 into Golgi vesicles regulates intra-Golgi transport.
Submit: New GeneRIF Correction See all GeneRIFs (19)

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
Muscular dystrophy, congenital, with or without seizures
MedGen: C5774274 OMIM: 620166 GeneReviews: Not available
Compare labs
Progressive myoclonic epilepsy type 6
MedGen: C5190805 OMIM: 614018 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
EBI GWAS Catalog
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
EBI GWAS Catalog
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
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)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of golgi SNAP receptor complex member 2 (GOSR2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SNAP receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables SNARE binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
NOT involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in intra-Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intra-Golgi vesicle-mediated transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in vesicle fusion IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in ER to Golgi transport vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ER to Golgi transport vesicle membrane TAS
Traceable Author Statement
more info
  
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi membrane TAS
Traceable Author Statement
more info
  
part_of SNARE complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of SNARE complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum-Golgi intermediate compartment membrane TAS
Traceable Author Statement
more info
  
is_active_in late endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
Golgi SNAP receptor complex member 2
Names
27 kDa Golgi SNARE protein
membrin

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_031806.3 RefSeqGene

    Range
    5002..23862
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001012511.3 → NP_001012529.1  Golgi SNAP receptor complex member 2 isoform C

    See identical proteins and their annotated locations for NP_001012529.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (C) differs in the 3' UTR and coding region compared to variant A. The resulting isoform (C) is shorter and has a distinct C-terminus compared to isoform A.
    Source sequence(s)
    AC005670, BC034762
    Consensus CDS
    CCDS45719.1
    UniProtKB/TrEMBL
    A0A1X7SBU8
    Related
    ENSP00000492830.1, ENST00000640621.1
    Conserved Domains (1) summary
    cl22856
    Location:120 → 159
    SNARE; SNARE motif

  2. NM_001321133.2 → NP_001308062.1  Golgi SNAP receptor complex member 2 isoform D

    Status: REVIEWED

    Source sequence(s)
    AC005670, AW205003, BG718145
    Consensus CDS
    CCDS86609.1
    UniProtKB/TrEMBL
    E7EQ34, I3NI02
    Related
    ENSP00000461784.2, ENST00000573224.2
    Conserved Domains (1) summary
    cd15863
    Location:120 → 185
    SNARE_GS27; SNARE motif of GS27

  3. NM_001321134.2 → NP_001308063.1  Golgi SNAP receptor complex member 2 isoform E

    Status: REVIEWED

    Source sequence(s)
    AA775225, AC005670, AI129639, BM353858
    Consensus CDS
    CCDS86613.1
    UniProtKB/TrEMBL
    A0A1W2PQE0, A0A1W2PR23
    Related
    ENSP00000377101.3, ENST00000393456.7
    Conserved Domains (1) summary
    cl22856
    Location:95 → 120
    SNARE; SNARE motif

  4. NM_001330252.2 → NP_001317181.1  Golgi SNAP receptor complex member 2 isoform F

    Status: REVIEWED

    Source sequence(s)
    AA775225, AC005670, BM353858, CD048223
    Consensus CDS
    CCDS82148.1
    UniProtKB/TrEMBL
    A0A1W2PR02, A0A1W2PR23
    Related
    ENSP00000491979.1, ENST00000640608.1
    Conserved Domains (1) summary
    cl22856
    Location:113 → 138
    SNARE; SNARE motif

  5. NM_001353114.2 → NP_001340043.1  Golgi SNAP receptor complex member 2 isoform G

    Status: REVIEWED

    Source sequence(s)
    AC005670
    Consensus CDS
    CCDS86610.1
    UniProtKB/TrEMBL
    A0A1W2PRC2, I3L4Z6
    Related
    ENSP00000492524.1, ENST00000638838.1
    Conserved Domains (1) summary
    cd15863
    Location:119 → 184
    SNARE_GS27; SNARE motif of GS27

  6. NM_001353115.2 → NP_001340044.1  Golgi SNAP receptor complex member 2 isoform H

    Status: REVIEWED

    Source sequence(s)
    AC005670
    Consensus CDS
    CCDS86611.1
    UniProtKB/TrEMBL
    A0A1W2PQ77, A0A1W2PR23
    Related
    ENSP00000491946.1, ENST00000638634.1
    Conserved Domains (1) summary
    cl22856
    Location:112 → 137
    SNARE; SNARE motif

  7. NM_001353116.2 → NP_001340045.1  Golgi SNAP receptor complex member 2 isoform I

    Status: REVIEWED

    Source sequence(s)
    AC005670
    UniProtKB/TrEMBL
    A0A1W2PR23
    Related
    ENSP00000492360.1, ENST00000638697.1
    Conserved Domains (1) summary
    cl22856
    Location:112 → 137
    SNARE; SNARE motif

  8. NM_001363851.2 → NP_001350780.1  Golgi SNAP receptor complex member 2 isoform J

    Status: REVIEWED

    Source sequence(s)
    AC005670
    Consensus CDS
    CCDS86612.1
    UniProtKB/TrEMBL
    A0A1W2PRL0, I3L4Z6
    Related
    ENSP00000492548.1, ENST00000640443.1
    Conserved Domains (1) summary
    cd15863
    Location:102 → 167
    SNARE_GS27; SNARE motif of GS27

  9. NM_004287.5 → NP_004278.2  Golgi SNAP receptor complex member 2 isoform A

    See identical proteins and their annotated locations for NP_004278.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A) represents the longest transcript and encodes isoform A.
    Source sequence(s)
    AA775225, AC005670, AF229796, BC009710, BM353858
    Consensus CDS
    CCDS42355.1
    UniProtKB/Swiss-Prot
    D3DXJ5, D3DXJ6, O14653, Q8N4B8, Q96DA5, Q9BZZ4
    UniProtKB/TrEMBL
    I3L4Z6
    Related
    ENSP00000492751.1, ENST00000640051.2
    Conserved Domains (1) summary
    cd15863
    Location:120 → 185
    SNARE_GS27; SNARE motif of GS27

  10. NM_054022.4 → NP_473363.1  Golgi SNAP receptor complex member 2 isoform B

    See identical proteins and their annotated locations for NP_473363.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B) differs in the 3' UTR and coding region compared to variant A. The resulting isoform (B) is slightly longer and has a unique C-terminus compared to isoform A.
    Source sequence(s)
    AA775225, AC005670, AF229796, BC009710, BM353858
    Consensus CDS
    CCDS11507.1
    UniProtKB/TrEMBL
    A0A1W2PPG5
    Related
    ENSP00000225567.4, ENST00000225567.9
    Conserved Domains (1) summary
    cd15863
    Location:120 → 185
    SNARE_GS27; SNARE motif of GS27

RNA

  1. NR_148349.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005670
    Related
    ENST00000640358.1

  2. NR_148350.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005670
    Related
    ENST00000639199.1

  3. NR_148351.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005670
    Related
    ENST00000639985.1

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    46923160..46975890
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025383.3 → XP_016880872.1  Golgi SNAP receptor complex member 2 isoform X7

    UniProtKB/TrEMBL
    E7EQ34
    Related
    ENSP00000492206.1, ENST00000640723.1

  2. XM_047437116.1 → XP_047293072.1  Golgi SNAP receptor complex member 2 isoform X6

  3. XM_017025386.2 → XP_016880875.1  Golgi SNAP receptor complex member 2 isoform X11

  4. XM_017025378.2 → XP_016880867.1  Golgi SNAP receptor complex member 2 isoform X5

    UniProtKB/TrEMBL
    E7EQ34

  5. XM_017025387.2 → XP_016880876.1  Golgi SNAP receptor complex member 2 isoform X12

  6. XM_047437119.1 → XP_047293075.1  Golgi SNAP receptor complex member 2 isoform X13

    UniProtKB/TrEMBL
    A0A1W2PPP5
    Related
    ENSP00000491253.1, ENST00000639365.1

  7. XM_017025392.2 → XP_016880881.1  Golgi SNAP receptor complex member 2 isoform X16

    UniProtKB/TrEMBL
    A0A1W2PR23

  8. XM_006722190.5 → XP_006722253.1  Golgi SNAP receptor complex member 2 isoform X10

    UniProtKB/TrEMBL
    A0A1W2PPG5, A0A1W2PQM3
    Related
    ENSP00000491785.1, ENST00000638189.1
    Conserved Domains (1) summary
    cd15863
    Location:120 → 185
    SNARE_GS27; SNARE motif of GS27

  9. XM_047437120.1 → XP_047293076.1  Golgi SNAP receptor complex member 2 isoform X17

  10. XM_011525501.4 → XP_011523803.1  Golgi SNAP receptor complex member 2 isoform X14

    UniProtKB/TrEMBL
    A0A1W2PPG5
    Conserved Domains (1) summary
    cd15863
    Location:120 → 185
    SNARE_GS27; SNARE motif of GS27

  11. XM_011525502.4 → XP_011523804.1  Golgi SNAP receptor complex member 2 isoform X15

    UniProtKB/TrEMBL
    A0A1W2PPG5
    Related
    ENSP00000491266.1, ENST00000638579.1
    Conserved Domains (1) summary
    cd15863
    Location:120 → 185
    SNARE_GS27; SNARE motif of GS27

  12. XM_047437114.1 → XP_047293070.1  Golgi SNAP receptor complex member 2 isoform X3

  13. XM_017025389.2 → XP_016880878.2  Golgi SNAP receptor complex member 2 isoform X3

  14. XM_047437115.1 → XP_047293071.1  Golgi SNAP receptor complex member 2 isoform X4

  15. XM_047437112.1 → XP_047293068.1  Golgi SNAP receptor complex member 2 isoform X1

  16. XM_047437117.1 → XP_047293073.1  Golgi SNAP receptor complex member 2 isoform X8

  17. XM_047437113.1 → XP_047293069.1  Golgi SNAP receptor complex member 2 isoform X2

  18. XM_047437118.1 → XP_047293074.1  Golgi SNAP receptor complex member 2 isoform X9

RNA

  1. XR_007065552.1 RNA Sequence

  2. XR_007065553.1 RNA Sequence

  3. XR_934616.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    47784606..47837321
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317896.1 → XP_054173871.1  Golgi SNAP receptor complex member 2 isoform X7

  2. XM_054317895.1 → XP_054173870.1  Golgi SNAP receptor complex member 2 isoform X6

  3. XM_054317900.1 → XP_054173875.1  Golgi SNAP receptor complex member 2 isoform X11

  4. XM_054317894.1 → XP_054173869.1  Golgi SNAP receptor complex member 2 isoform X5

  5. XM_054317901.1 → XP_054173876.1  Golgi SNAP receptor complex member 2 isoform X12

  6. XM_054317902.1 → XP_054173877.1  Golgi SNAP receptor complex member 2 isoform X13

  7. XM_054317906.1 → XP_054173881.1  Golgi SNAP receptor complex member 2 isoform X16

  8. XM_054317899.1 → XP_054173874.1  Golgi SNAP receptor complex member 2 isoform X10

  9. XM_054317907.1 → XP_054173882.1  Golgi SNAP receptor complex member 2 isoform X17

  10. XM_054317904.1 → XP_054173879.1  Golgi SNAP receptor complex member 2 isoform X14

  11. XM_054317905.1 → XP_054173880.1  Golgi SNAP receptor complex member 2 isoform X15

  12. XM_054317898.1 → XP_054173873.1  Golgi SNAP receptor complex member 2 isoform X9

  13. XM_054317897.1 → XP_054173872.1  Golgi SNAP receptor complex member 2 isoform X8

  14. XM_054317893.1 → XP_054173868.1  Golgi SNAP receptor complex member 2 isoform X4

  15. XM_054317891.1 → XP_054173866.1  Golgi SNAP receptor complex member 2 isoform X2

  16. XM_054317892.1 → XP_054173867.1  Golgi SNAP receptor complex member 2 isoform X3

  17. XM_054317908.1 → XP_054173883.1  Golgi SNAP receptor complex member 2 isoform X3

  18. XM_054317890.1 → XP_054173865.1  Golgi SNAP receptor complex member 2 isoform X1

  19. XM_054317903.1 → XP_054173878.1  Golgi SNAP receptor complex member 2 isoform X18

RNA

  1. XR_008484970.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O14653.2 GenPept UniProtKB/Swiss-Prot:O14653

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