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

Gene ID: 9570, updated on 12-Aug-2022

Summary

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
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

See GOSR2 in Genome Data Viewer
Location:
17q21.32
Exon count:
15
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (46923160..46975890)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (47784606..47828429)
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 RNA, U6atac small nuclear 3, pseudogene Neighboring gene Sharpr-MPRA regulatory region 11668 Neighboring gene uncharacterized LOC101927060 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Progressive myoclonic epilepsy type 6
MedGen: C3279627 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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SNAP receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables SNARE binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
Component Evidence Code Pubs
is_active_in ER to Golgi transport vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
part_of SNARE complex ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in late endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in membrane HDA PubMed 

General protein information

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_031806.2 RefSeqGene

    Range
    4998..23901
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001012511.3NP_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/Swiss-Prot
    O14653
    Related
    ENSP00000492830.1, ENST00000640621.1
    Conserved Domains (1) summary
    cl22856
    Location:120159
    SNARE; SNARE motif
  2. NM_001321133.2NP_001308062.1  Golgi SNAP receptor complex member 2 isoform D

    Status: REVIEWED

    Source sequence(s)
    AC005670, AW205003, BG718145
    Consensus CDS
    CCDS86609.1
    UniProtKB/TrEMBL
    I3NI02
    Related
    ENSP00000461784.2, ENST00000573224.2
    Conserved Domains (1) summary
    cd15863
    Location:120185
    SNARE_GS27; SNARE motif of GS27
  3. NM_001321134.2NP_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
    Related
    ENSP00000377101.3, ENST00000393456.7
    Conserved Domains (1) summary
    cl22856
    Location:95120
    SNARE; SNARE motif
  4. NM_001330252.2NP_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
    Related
    ENSP00000491979.1, ENST00000640608.1
    Conserved Domains (1) summary
    cl22856
    Location:113138
    SNARE; SNARE motif
  5. NM_001353114.2NP_001340043.1  Golgi SNAP receptor complex member 2 isoform G

    Status: REVIEWED

    Source sequence(s)
    AC005670
    Consensus CDS
    CCDS86610.1
    UniProtKB/TrEMBL
    A0A1W2PRC2
    Related
    ENSP00000492524.1, ENST00000638838.1
    Conserved Domains (1) summary
    cd15863
    Location:119184
    SNARE_GS27; SNARE motif of GS27
  6. NM_001353115.2NP_001340044.1  Golgi SNAP receptor complex member 2 isoform H

    Status: REVIEWED

    Source sequence(s)
    AC005670
    Consensus CDS
    CCDS86611.1
    UniProtKB/TrEMBL
    A0A1W2PQ77
    Related
    ENSP00000491946.1, ENST00000638634.1
    Conserved Domains (1) summary
    cl22856
    Location:112137
    SNARE; SNARE motif
  7. NM_001353116.2NP_001340045.1  Golgi SNAP receptor complex member 2 isoform I

    Status: REVIEWED

    Source sequence(s)
    AC005670
    Related
    ENSP00000492360.1, ENST00000638697.1
    Conserved Domains (1) summary
    cl22856
    Location:112137
    SNARE; SNARE motif
  8. NM_001363851.2NP_001350780.1  Golgi SNAP receptor complex member 2 isoform J

    Status: REVIEWED

    Source sequence(s)
    AC005670
    Consensus CDS
    CCDS86612.1
    UniProtKB/TrEMBL
    A0A1W2PRL0
    Related
    ENSP00000492548.1, ENST00000640443.1
    Conserved Domains (1) summary
    cd15863
    Location:102167
    SNARE_GS27; SNARE motif of GS27
  9. NM_004287.5NP_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
    O14653, Q9BZZ4
    Related
    ENSP00000492751.1, ENST00000640051.2
    Conserved Domains (1) summary
    cd15863
    Location:120185
    SNARE_GS27; SNARE motif of GS27
  10. NM_054022.4NP_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/Swiss-Prot
    O14653
    Related
    ENSP00000225567.4, ENST00000225567.9
    Conserved Domains (1) summary
    cd15863
    Location:120185
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017025383.3XP_016880872.1  Golgi SNAP receptor complex member 2 isoform X7

    Related
    ENSP00000492206.1, ENST00000640723.1
  2. XM_047437116.1XP_047293072.1  Golgi SNAP receptor complex member 2 isoform X6

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

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

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

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

    UniProtKB/TrEMBL
    A0A1W2PPP5
    Related
    ENSP00000491253.1, ENST00000639365.1
  7. XM_017025392.2XP_016880881.1  Golgi SNAP receptor complex member 2 isoform X16

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

    UniProtKB/TrEMBL
    A0A1W2PQM3
    Related
    ENSP00000491785.1, ENST00000638189.1
    Conserved Domains (1) summary
    cd15863
    Location:120185
    SNARE_GS27; SNARE motif of GS27
  9. XM_047437120.1XP_047293076.1  Golgi SNAP receptor complex member 2 isoform X17

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

    Conserved Domains (1) summary
    cd15863
    Location:120185
    SNARE_GS27; SNARE motif of GS27
  11. XM_011525502.4XP_011523804.1  Golgi SNAP receptor complex member 2 isoform X15

    Related
    ENSP00000491266.1, ENST00000638579.1
    Conserved Domains (1) summary
    cd15863
    Location:120185
    SNARE_GS27; SNARE motif of GS27
  12. XM_047437114.1XP_047293070.1  Golgi SNAP receptor complex member 2 isoform X3

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

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

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

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

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

  18. XM_047437118.1XP_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..47828429
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)