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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
    mouse all
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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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