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

Gene ID: 9570, updated on 13-Feb-2019

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 current GRCh38.p12 (GCF_000001405.38) 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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Epilepsy, progressive myoclonic 6
MedGen: C3279627 OMIM: 614018 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

  • Arf1 pathway, organism-specific biosystem (from Pathway Interaction Database)
    Arf1 pathway, organism-specific biosystem
    Arf1 pathway
  • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
    Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
  • COPI-mediated anterograde transport, organism-specific biosystem (from REACTOME)
    COPI-mediated anterograde transport, organism-specific biosystemThe ERGIC (ER-to-Golgi intermediate compartment, also known as vesicular-tubular clusters, VTCs) is a stable, biochemically distinct compartment located adjacent to ER exit sites (Ben-Tekaya et al, 2...
  • COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystem (from REACTOME)
    COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystemCOPII components (known as Sec13p, Sec23p, Sec24p, Sec31p, and Sar1p in yeast) traffic cargo from the endoplasmic reticulum to the ER-Golgi intermediate compartment (ERGIC). COPII-coated vesicles wer...
  • Cargo concentration in the ER, organism-specific biosystem (from REACTOME)
    Cargo concentration in the ER, organism-specific biosystemComputational analysis suggests that ~25% of the proteome may be exported from the ER in human cells (Kanapin et al, 2003). These cargo need to be recognized and concentrated into COPII vesicles, wh...
  • ER to Golgi Anterograde Transport, organism-specific biosystem (from REACTOME)
    ER to Golgi Anterograde Transport, organism-specific biosystemSecretory cargo destined to be secreted or to arrive at the plasma membrane (PM) leaves the ER via distinct exit sites. This cargo is destined for the Golgi apparatus for further processing.
  • IRE1alpha activates chaperones, organism-specific biosystem (from REACTOME)
    IRE1alpha activates chaperones, organism-specific biosystemIRE1-alpha is a single-pass transmembrane protein that resides in the endoplasmic reticulum (ER) membrane. The C-terminus of IRE1-alpha is located in the cytosol; the N-terminus is located in the ER ...
  • Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi and retrograde Golgi-to-ER traffic, organism-specific biosystemThe mammalian Golgi complex, a central hub of both anterograde and retrograde trafficking, is a ribbon of stacked cisterna with biochemically distinct compartments (reviewed in Glick and Nakano, 2009...
  • Intra-Golgi traffic, organism-specific biosystem (from REACTOME)
    Intra-Golgi traffic, organism-specific biosystemThe mammalian Golgi consists of at least three biochemically distinct cisternae, cis-, medial- and trans (reviewed in Szul and Sztul, 2011; Day et al, 2013). The structure and function of the Golgi a...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • SNARE interactions in vesicular transport, organism-specific biosystem (from KEGG)
    SNARE interactions in vesicular transport, organism-specific biosystem
    SNARE interactions in vesicular transport
  • SNARE interactions in vesicular transport, conserved biosystem (from KEGG)
    SNARE interactions in vesicular transport, conserved biosystem
    SNARE interactions in vesicular transport
  • Transport to the Golgi and subsequent modification, organism-specific biosystem (from REACTOME)
    Transport to the Golgi and subsequent modification, organism-specific biosystemAt least two mechanisms of transport of proteins from the ER to the Golgi have been described. One is a general flow requiring no export signals (Wieland et al, 1987; Martinez-Menarguez et al, 1999)....
  • Unfolded Protein Response (UPR), organism-specific biosystem (from REACTOME)
    Unfolded Protein Response (UPR), organism-specific biosystemThe Unfolded Protein Response (UPR) is a regulatory system that protects the Endoplasmic Reticulum (ER) from overload. The UPR is provoked by the accumulation of improperly folded protein in the ER d...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
  • XBP1(S) activates chaperone genes, organism-specific biosystem (from REACTOME)
    XBP1(S) activates chaperone genes, organism-specific biosystemXbp-1 (S) binds the sequence CCACG in ER Stress Responsive Elements (ERSE, consensus sequence CCAAT (N)9 CCACG) located upstream from many genes. The ubiquitous transcription factor NF-Y, a heterotri...

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
 
ER to Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT ER to Golgi vesicle-mediated transport IDA
Inferred from Direct Assay
more info
PubMed 
ER to Golgi vesicle-mediated transport 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
 
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_001012511.2NP_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, CD048223
    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_001321133.1NP_001308062.1  Golgi SNAP receptor complex member 2 isoform D

    Status: REVIEWED

    Source sequence(s)
    AC005670, AW205003, BG718145, CD048223
    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_001321134.1NP_001308063.1  Golgi SNAP receptor complex member 2 isoform E

    Status: REVIEWED

    Source sequence(s)
    AA775225, AC005670, AI129639, BM353858, CD048223
    Consensus CDS
    CCDS86613.1
    UniProtKB/TrEMBL
    A0A1W2PQE0
    Related
    ENSP00000377101.3, ENST00000393456.7
    Conserved Domains (1) summary
    cl22856
    Location:95120
    SNARE; SNARE motif
  4. NM_001330252.1NP_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_001353114.1NP_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_001353115.1NP_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_001353116.1NP_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_001363851.1NP_001350780.1  Golgi SNAP receptor complex member 2 isoform J

    Status: REVIEWED

    Source sequence(s)
    AC005670
    Consensus CDS
    CCDS86612.1
    Conserved Domains (1) summary
    cd15863
    Location:102167
    SNARE_GS27; SNARE motif of GS27
  9. NM_004287.4NP_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, BM846811, CD048223
    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_054022.3NP_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, BM846811, CD048223
    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_148349.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005670
    Related
    ENST00000640358.1
  2. NR_148350.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005670
    Related
    ENST00000639199.1
  3. NR_148351.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC005670
    Related
    ENST00000639985.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 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_017025390.1XP_016880879.1  Golgi SNAP receptor complex member 2 isoform X10

    UniProtKB/TrEMBL
    A0A1W2PRL0
    Related
    ENSP00000492548.1, ENST00000640443.1
    Conserved Domains (1) summary
    cd15863
    Location:102167
    SNARE_GS27; SNARE motif of GS27
  12. XM_017025380.1XP_016880869.1  Golgi SNAP receptor complex member 2 isoform X2

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

  14. 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
  15. XM_017025381.1XP_016880870.1  Golgi SNAP receptor complex member 2 isoform X3

  16. 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
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