Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GOSR2 Gene

Aliases for GOSR2 Gene

  • Golgi SNAP Receptor Complex Member 2 2 3 3 5
  • 27 KDa Golgi SNARE Protein 3 4
  • Membrin 3 4
  • GS27 3 4
  • Bos1 3
  • EPM6 3

External Ids for GOSR2 Gene

Previous GeneCards Identifiers for GOSR2 Gene

  • GC17P044498
  • GC17P047398
  • GC17P045342
  • GC17P045475
  • GC17P042356
  • GC17P045000
  • GC17P040378

Summaries for GOSR2 Gene

Entrez Gene Summary for GOSR2 Gene

  • 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]

GeneCards Summary for GOSR2 Gene

GOSR2 (Golgi SNAP Receptor Complex Member 2) is a Protein Coding gene. Diseases associated with GOSR2 include Epilepsy, Progressive Myoclonic, 6 and Muscular Dystrophy. Among its related pathways are Transport to the Golgi and subsequent modification and Sertoli-Sertoli Cell Junction Dynamics. Gene Ontology (GO) annotations related to this gene include transporter activity and SNAP receptor activity. An important paralog of this gene is ENSG00000262633.

UniProtKB/Swiss-Prot for GOSR2 Gene

  • Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network.

Gene Wiki entry for GOSR2 Gene

Additional gene information for GOSR2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GOSR2 Gene

Genomics for GOSR2 Gene

GeneHancer (GH) Regulatory Elements for GOSR2 Gene

Promoters and enhancers for GOSR2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J046922 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 669.5 +3.9 3917 9.6 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 GOSR2 MRPL45P2 LOC101927060 ARL17B ARL17A EFCAB13 ENSG00000262372 CDC27 RPS7P11 MYL4
GH17J046938 Promoter 0.5 EPDnew 650.4 +15.5 15490 0.1 GC17P046939 PIR50319 GOSR2 WNT3 WNT9B ENSG00000262633
GH17J047274 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 19.7 +354.9 354946 7.4 HDGF PKNOX1 SMAD1 SIN3A FEZF1 YBX1 ZNF2 IRF4 YY1 ZNF143 ITGB3 EFCAB13 GOSR2 LRRC37A2 LRRC46 TBKBP1 CBX1 ENSG00000264701 ENSG00000263766 MYL4
GH17J046850 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 11.7 -71.4 -71403 1.7 ZSCAN4 KLF17 SIN3A ZNF48 ZEB1 ZNF335 ZNF121 GLIS2 ZNF366 SP3 WNT9B GOSR2 LOC101927060 LRRC37A17P MAPK8IP1P1 SCRN2 ARL17B LINC01974
GH17J047700 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +781.9 781911 9.3 HDGF PKNOX1 SMAD1 ARNT SIN3A FEZF1 CBX5 E2F8 ZNF263 MCM3 MRPL45P2 TBKBP1 SP2 EFCAB13 ENSG00000253347 ENSG00000264701 ENSG00000266601 RPS7P11 CDK5RAP3 RPS2P47
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GOSR2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GOSR2 gene promoter:
  • S8
  • Lmo2
  • STAT2
  • YY1
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT3
  • STAT4
  • PPAR-gamma2

Genomic Locations for GOSR2 Gene

Genomic Locations for GOSR2 Gene
52,450 bases
Plus strand
104,521 bases
Plus strand

Genomic View for GOSR2 Gene

Genes around GOSR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GOSR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GOSR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GOSR2 Gene

Proteins for GOSR2 Gene

  • Protein details for GOSR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Golgi SNAP receptor complex member 2
    Protein Accession:
    Secondary Accessions:
    • D3DXJ5
    • D3DXJ6
    • Q8N4B8
    • Q96DA5
    • Q9BZZ4

    Protein attributes for GOSR2 Gene

    212 amino acids
    Molecular mass:
    24775 Da
    Quaternary structure:
    • Part of a unique SNARE complex composed of the Golgi SNAREs GOSR1, STX5 and YKT6 (By similarity). Interacts (via IxM motif) with SEC24C and SEC24D; mediates GOSR2 packaging into COPII-coated vesicles (PubMed:18843296).

    Three dimensional structures from OCA and Proteopedia for GOSR2 Gene

    Alternative splice isoforms for GOSR2 Gene


neXtProt entry for GOSR2 Gene

Post-translational modifications for GOSR2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GOSR2 Gene

Domains & Families for GOSR2 Gene

Gene Families for GOSR2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for GOSR2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the GOSR2 family.
  • Belongs to the GOSR2 family.
genes like me logo Genes that share domains with GOSR2: view

Function for GOSR2 Gene

Molecular function for GOSR2 Gene

UniProtKB/Swiss-Prot Function:
Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network.
GENATLAS Biochemistry:
Golgi SNAP (soluble NSF (N-ethylmaleimide sensitive) attachment protein) receptor (SNARE) complex,member 1,trafficking membrane protein involved in intra Golgi transport

Phenotypes From GWAS Catalog for GOSR2 Gene

Gene Ontology (GO) - Molecular Function for GOSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IBA --
GO:0005484 SNAP receptor activity IEA,IBA --
GO:0005515 protein binding IPI 18843296
genes like me logo Genes that share ontologies with GOSR2: view
genes like me logo Genes that share phenotypes with GOSR2: view

Human Phenotype Ontology for GOSR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GOSR2 Gene

MGI Knock Outs for GOSR2:
  • Gosr2 Gosr2<tm1b(EUCOMM)Hmgu>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GOSR2 Gene

Localization for GOSR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GOSR2 Gene

Golgi apparatus, cis-Golgi network membrane; Single-pass type IV membrane protein. Golgi apparatus membrane. Endoplasmic reticulum membrane. Note=Concentrated most in the intermediate compartment/cis-Golgi network and the cis-Golgi cisternae 1 and 2. Greatly reduced in concentration at the trans end of the Golgi apparatus. {ECO:0000250 UniProtKB:O35165}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GOSR2 gene
Compartment Confidence
golgi apparatus 5
endoplasmic reticulum 4
cytosol 4
endosome 3
nucleus 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GOSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS,IBA --
GO:0005794 Golgi apparatus IDA,IEA 16081076
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with GOSR2: view

Pathways & Interactions for GOSR2 Gene

genes like me logo Genes that share pathways with GOSR2: view

Pathways by source for GOSR2 Gene

Gene Ontology (GO) - Biological Process for GOSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006623 protein targeting to vacuole IBA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006891 intra-Golgi vesicle-mediated transport IDA,IBA 9349823
GO:0006896 Golgi to vacuole transport IBA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with GOSR2: view

No data available for SIGNOR curated interactions for GOSR2 Gene

Drugs & Compounds for GOSR2 Gene

No Compound Related Data Available

Transcripts for GOSR2 Gene

mRNA/cDNA for GOSR2 Gene

Unigene Clusters for GOSR2 Gene

Golgi SNAP receptor complex member 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GOSR2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8
SP1: - - - -
SP2: - - -
SP3: - - - -
SP4: - -
SP5: -
SP6: -

Relevant External Links for GOSR2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GOSR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GOSR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GOSR2 Gene

This gene is overexpressed in Bone (7.4) and Fetal Brain (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GOSR2 Gene

Protein tissue co-expression partners for GOSR2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GOSR2 Gene:


SOURCE GeneReport for Unigene cluster for GOSR2 Gene:


Evidence on tissue expression from TISSUES for GOSR2 Gene

  • Intestine(4.3)
  • Lung(4.3)
  • Nervous system(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GOSR2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • head
  • lung
  • rib
  • rib cage
  • pelvis
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with GOSR2: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GOSR2 Gene

Orthologs for GOSR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GOSR2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GOSR2 33
  • 99.15 (n)
-- 34
  • 83 (a)
(Canis familiaris)
Mammalia GOSR2 33
  • 91.35 (n)
-- 34
  • 83 (a)
(Bos Taurus)
Mammalia GOSR2 34 33
  • 90.25 (n)
(Rattus norvegicus)
Mammalia Gosr2 33
  • 89.31 (n)
(Mus musculus)
Mammalia Gosr2 16 34 33
  • 88.84 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 86 (a)
(Gallus gallus)
Aves GOSR2 33
  • 76.73 (n)
-- 34
  • 73 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gosr2 33
  • 75.79 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32146 33
(Danio rerio)
Actinopterygii gosr2 34 33
  • 68.55 (n)
wufc33b02 33
fruit fly
(Drosophila melanogaster)
Insecta membrin 34 33
  • 52.36 (n)
CG4780 35
  • 42 (a)
(Caenorhabditis elegans)
Secernentea memb-1 34 33
  • 42.86 (n)
memb-2 34
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
Species where no ortholog for GOSR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GOSR2 Gene

Gene Tree for GOSR2 (if available)
Gene Tree for GOSR2 (if available)
Evolutionary constrained regions (ECRs) for GOSR2: view image

Paralogs for GOSR2 Gene

Paralogs for GOSR2 Gene

(6) SIMAP similar genes for GOSR2 Gene using alignment to 7 proteins:

  • E7EQ34_HUMAN
  • I3L0K1_HUMAN
  • I3L1K7_HUMAN
  • I3L3V4_HUMAN
  • I3L4Z6_HUMAN
  • I3NI02_HUMAN Pseudogenes for GOSR2 Gene

genes like me logo Genes that share paralogs with GOSR2: view

Variants for GOSR2 Gene

Sequence variations from dbSNP and Humsavar for GOSR2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1034821592 uncertain-significance, Progressive myoclonic epilepsy 46,941,013(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1052586 benign, Progressive myoclonic epilepsy 46,941,097(+) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1060500714 uncertain-significance, Progressive myoclonic epilepsy 46,931,137(+) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs113817924 benign, conflicting-interpretations-of-pathogenicity, not specified, Progressive myoclonic epilepsy 46,929,530(+) G/A 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs116123534 likely-benign, Progressive myoclonic epilepsy 46,940,415(+) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GOSR2 Gene

Variant ID Type Subtype PubMed ID
esv2656635 CNV deletion 23128226
esv2758692 CNV gain+loss 17122850
nsv1146669 OTHER inversion 26484159

Variation tolerance for GOSR2 Gene

Residual Variation Intolerance Score: 54.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.54; 91.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GOSR2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GOSR2 Gene

Disorders for GOSR2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GOSR2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, progressive myoclonic, 6
  • epm6
muscular dystrophy
  • muscular dystrophies
isolated growth hormone deficiency, type ii
  • ighd2
progressive myoclonus epilepsy
  • progressive myoclonic epilepsy
- elite association - COSMIC cancer census association via MalaCards
Search GOSR2 in MalaCards View complete list of genes associated with diseases


  • Epilepsy, progressive myoclonic 6 (EPM6) [MIM:614018]: A neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade. Cognition is not usually affected, although mild memory difficulties may occur in the third decade. {ECO:0000269 PubMed:21549339}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GOSR2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GOSR2: view

No data available for Genatlas for GOSR2 Gene

Publications for GOSR2 Gene

  1. cDNA characterization and chromosomal mapping of human golgi SNARE GS27 and GS28 to chromosome 17. (PMID: 10198168) Bui TD … Hong W (Genomics 1999) 2 3 4 22 58
  2. A SNARE involved in protein transport through the Golgi apparatus. (PMID: 9349823) Lowe SL … Hong W (Nature 1997) 2 3 4 22 58
  3. A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. (PMID: 21549339) Corbett MA … Berkovic SF (American journal of human genetics 2011) 3 4 58
  4. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. (PMID: 21909110) Wain LV … van Duijn CM (Nature genetics 2011) 3 44 58
  5. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. (PMID: 21909115) International Consortium for Blood Pressure Genome-Wide Association Studies … Johnson T (Nature 2011) 3 44 58

Products for GOSR2 Gene

Sources for GOSR2 Gene

Loading form....