Format

Send to:

Choose Destination

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

Gene ID: 9570, updated on 24-Nov-2020

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
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

Genomic context

See GOSR2 in Genome Data Viewer
Location:
17q21.32
Exon count:
14
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (46923108..46975519)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (45000486..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 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
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
GeneReviews: Not available
Epilepsy, progressive myoclonic 6
MedGen: C3279627 OMIM: 614018 GeneReviews: Not available
Compare labs
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
GeneReviews: Not available
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
GeneReviews: Not available

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
SNAP receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SNARE binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
COPII vesicle coating TAS
Traceable Author Statement
more info
 
Golgi to vacuole transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
IRE1-mediated unfolded protein response TAS
Traceable Author Statement
more info
 
NOT endoplasmic reticulum to Golgi vesicle-mediated transport IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
intra-Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intra-Golgi vesicle-mediated transport IDA
Inferred from Direct Assay
more info
PubMed 
protein targeting to vacuole IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retrograde transport, endosome to Golgi IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vesicle fusion with Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
ER to Golgi transport vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ER to Golgi transport vesicle membrane TAS
Traceable Author Statement
more info
 
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
SNARE complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SNARE complex ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum-Golgi intermediate compartment membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
late endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    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
    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
    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
    Related
    ENSP00000492751.1, ENST00000640051.1
    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 Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    46923108..46975519
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025386.1XP_016880875.1  Golgi SNAP receptor complex member 2 isoform X6

  2. XM_017025378.1XP_016880867.1  Golgi SNAP receptor complex member 2 isoform X1

  3. XM_017025387.1XP_016880876.1  Golgi SNAP receptor complex member 2 isoform X7

  4. XM_017025392.1XP_016880881.1  Golgi SNAP receptor complex member 2 isoform X11

  5. XM_017025383.2XP_016880872.1  Golgi SNAP receptor complex member 2 isoform X4

    Related
    ENSP00000492206.1, ENST00000640723.1
  6. XM_006722190.4XP_006722253.1  Golgi SNAP receptor complex member 2 isoform X5

    UniProtKB/TrEMBL
    A0A1W2PQM3
    Related
    ENSP00000491785.1, ENST00000638189.1
    Conserved Domains (1) summary
    cd15863
    Location:120185
    SNARE_GS27; SNARE motif of GS27
  7. XM_011525502.3XP_011523804.1  Golgi SNAP receptor complex member 2 isoform X9

    Related
    ENSP00000491399.1, ENST00000638219.1
    Conserved Domains (1) summary
    cd15863
    Location:120185
    SNARE_GS27; SNARE motif of GS27
  8. XM_011525501.3XP_011523803.1  Golgi SNAP receptor complex member 2 isoform X8

    Conserved Domains (1) summary
    cd15863
    Location:120185
    SNARE_GS27; SNARE motif of GS27
  9. XM_017025389.1XP_016880878.1  Golgi SNAP receptor complex member 2 isoform X10

    UniProtKB/TrEMBL
    A0A1W2PRL0
    Related
    ENSP00000491961.1, ENST00000638216.1
    Conserved Domains (1) summary
    cd15863
    Location:102167
    SNARE_GS27; SNARE motif of GS27
  10. XM_017025379.1XP_016880868.1  Golgi SNAP receptor complex member 2 isoform X2

  11. XM_017025380.1XP_016880869.1  Golgi SNAP receptor complex member 2 isoform X2

  12. XM_017025394.1XP_016880883.1  Golgi SNAP receptor complex member 2 isoform X12

  13. XM_017025395.1XP_016880884.1  Golgi SNAP receptor complex member 2 isoform X13

    UniProtKB/TrEMBL
    A0A1W2PQE0
    Related
    ENSP00000491682.1, ENST00000640068.1
    Conserved Domains (1) summary
    cl22856
    Location:95120
    SNARE; SNARE motif
  14. XM_017025381.1XP_016880870.1  Golgi SNAP receptor complex member 2 isoform X3

  15. XM_017025382.1XP_016880871.1  Golgi SNAP receptor complex member 2 isoform X3

RNA

  1. XR_001752696.2 RNA Sequence

  2. XR_002958091.1 RNA Sequence

    Related
    ENST00000640792.1
  3. XR_002958092.1 RNA Sequence

    Related
    ENST00000639365.1
  4. XR_934619.3 RNA Sequence

    Related
    ENST00000638579.1
  5. XR_934616.3 RNA Sequence

  6. XR_002958093.1 RNA Sequence

    Related
    ENST00000639388.1
Support Center