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Aliases for GOSR2 Gene

Aliases for GOSR2 Gene

  • Golgi SNAP Receptor Complex Member 2 2 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 Gosr2-Related Progressive Myoclonus Ataxia. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport. 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

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

Genomics for GOSR2 Gene

Regulatory Elements for GOSR2 Gene

Enhancers for GOSR2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F046769 1.7 FANTOM5 Ensembl ENCODE 10.7 -151.4 -151412 4.6 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 PAF1 KANSL1-AS1 ENSG00000262539 ARL17A WNT3 WNT9B ENSG00000253347 GOSR2 MRPL45P2 NSFP1 RPS7P11
GH17F046962 0.8 Ensembl 19.2 +39.5 39487 0.4 KLF17 YBX1 ZIC2 ZFHX2 ZNF207 FOS ZBTB20 MTA2 TRIM22 TBX21 GOSR2 LOC101927060 PIR41700 MIR5089
GH17F047274 1.7 FANTOM5 Ensembl ENCODE 8.9 +354.9 354941 7.5 HDGF PKNOX1 WRNIP1 SIN3A YBX1 FEZF1 ZNF2 CBX5 ZNF143 ZNF207 EFCAB13 ARL17B MRPL45P2 TBKBP1 MYL4 SCRN2 ENSG00000264701 ENSG00000253347 GOSR2 ITGB3
GH17F046922 1.4 Ensembl ENCODE 10.3 +4.0 3956 9.4 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 LOC101927060 MRPL45P2 RPS7P11 MYL4 ENSG00000253347 ARL17B WNT3 WNT9B GOSR2 RPRML
GH17F046835 1.2 Ensembl ENCODE 11.5 -87.0 -87014 0.6 ATF1 ARNT GLI4 ZNF2 ZNF48 ZNF143 KLF7 MCM3 YY2 REST GOSR2 LRRC37A17P WNT9B LINC01974
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GOSR2 on UCSC Golden Path with GeneCards custom track

Promoters for GOSR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001807677 187 2200 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1

Genomic Location for GOSR2 Gene

Chromosome:
17
Start:
46,923,114 bp from pter
End:
46,967,019 bp from pter
Size:
43,906 bases
Orientation:
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:
    O14653-GOSR2_HUMAN
    Recommended name:
    Golgi SNAP receptor complex member 2
    Protein Accession:
    O14653
    Secondary Accessions:
    • D3DXJ5
    • D3DXJ6
    • Q8N4B8
    • Q96DA5
    • Q9BZZ4

    Protein attributes for GOSR2 Gene

    Size:
    212 amino acids
    Molecular mass:
    24775 Da
    Quaternary structure:
    • Identified in a unique SNARE complex composed of the Golgi SNAREs GOSR1, STX5 and YKT6.

    Three dimensional structures from OCA and Proteopedia for GOSR2 Gene

    Alternative splice isoforms for GOSR2 Gene

    UniProtKB/Swiss-Prot:

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

Protein Domains for GOSR2 Gene

Graphical View of Domain Structure for InterPro Entry

O14653

UniProtKB/Swiss-Prot:

GOSR2_HUMAN :
  • Belongs to the GOSR2 family.
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

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

Gene Ontology (GO) - Molecular Function for GOSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IBA --
GO:0005215 transporter activity TAS 9349823
GO:0005484 SNAP receptor activity IEA,IBA --
GO:0005515 protein binding IPI 25416956
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:

Animal Model Products

Flow Cytometry 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. 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 (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
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

Gene Ontology (GO) - Cellular Components for GOSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005789 endoplasmic reticulum membrane IBA,TAS --
GO:0005794 Golgi apparatus IEA,IDA 16081076
GO:0005829 cytosol IEA --
GO:0012507 ER to Golgi transport vesicle membrane IBA,TAS --
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:0006810 transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006891 intra-Golgi vesicle-mediated transport IBA --
GO:0006896 Golgi to vacuole transport IBA --
genes like me logo Genes that share ontologies with GOSR2: view

No data available for SIGNOR curated interactions for GOSR2 Gene

Transcripts for GOSR2 Gene

Unigene Clusters for GOSR2 Gene

Golgi SNAP receptor complex member 2:
Representative Sequences:

Flow Cytometry 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
GOSR2
ECgene alternative splicing isoforms for
GOSR2

Expression for GOSR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, PaxDb, 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:

GOSR2

SOURCE GeneReport for Unigene cluster for GOSR2 Gene:

Hs.463278
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
chimpanzee
(Pan troglodytes)
Mammalia GOSR2 34
  • 99.15 (n)
-- 35
  • 83 (a)
OneToMany
dog
(Canis familiaris)
Mammalia GOSR2 34
  • 91.35 (n)
-- 35
  • 83 (a)
OneToMany
cow
(Bos Taurus)
Mammalia GOSR2 34 35
  • 90.25 (n)
rat
(Rattus norvegicus)
Mammalia Gosr2 34
  • 89.31 (n)
mouse
(Mus musculus)
Mammalia Gosr2 34 16 35
  • 88.84 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 86 (a)
OneToMany
chicken
(Gallus gallus)
Aves GOSR2 34
  • 76.73 (n)
-- 35
  • 73 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 74 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gosr2 34
  • 75.79 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32146 34
zebrafish
(Danio rerio)
Actinopterygii gosr2 34 35
  • 68.55 (n)
wufc33b02 34
fruit fly
(Drosophila melanogaster)
Insecta membrin 34 35
  • 52.36 (n)
CG4780 36
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea memb-1 34 35
  • 42.86 (n)
memb-2 35
  • 26 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
OneToMany
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

ENSEMBL:
Gene Tree for GOSR2 (if available)
TreeFam:
Gene Tree for GOSR2 (if available)

Paralogs for GOSR2 Gene

Paralogs for GOSR2 Gene

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

Pseudogenes.org 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 Sequence Context AA Info Type
rs387906881 Epilepsy, progressive myoclonic 6 (EPM6) [MIM:614018], Pathogenic 46,935,122(+) TAGAT(G/T)GGCAC intron-variant, nc-transcript-variant, reference, missense
rs141554661 Pathogenic 46,932,200(+) CTAAC(A/G)TAAGC splice-donor-variant
rs863223401 Pathogenic 46,938,612(+) GAAGA(-/AGA)TCCTT nc-transcript-variant, cds-indel
rs753166413 Likely benign 46,935,097(+) CACAA(C/T)GGCAT intron-variant, nc-transcript-variant, reference, synonymous-codon
rs137975476 Uncertain significance 46,935,080(+) CCTCC(C/T)TCCAG intron-variant, nc-transcript-variant, reference, missense

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

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

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)

Relevant External Links for GOSR2 Gene

Human Gene Mutation Database (HGMD)
GOSR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GOSR2

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: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, progressive myoclonic 6
  • epilepsy, progressive myoclonic, 6
gosr2-related progressive myoclonus ataxia
  • epilepsy, progressive myoclonic, 6
myoclonus
epilepsy, progressive myoclonic 1a
  • progressive myoclonus epilepsy
- elite association - COSMIC cancer census association via MalaCards
Search GOSR2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GOSR2_HUMAN
  • 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.

Relevant External Links for GOSR2

Genetic Association Database (GAD)
GOSR2
Human Genome Epidemiology (HuGE) Navigator
GOSR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GOSR2
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 T.D. … Hong W. (Genomics 1999) 2 3 4 22 64
  2. A SNARE involved in protein transport through the Golgi apparatus. (PMID: 9349823) Lowe S.L. … Hong W. (Nature 1997) 2 3 4 22 64
  3. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. (PMID: 21909110) Wain L.V. … van Duijn C.M. (Nat. Genet. 2011) 3 46 64
  4. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. (PMID: 21909115) . … Johnson T. (Nature 2011) 3 46 64
  5. A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. (PMID: 21549339) Corbett M.A. … Berkovic S.F. (Am. J. Hum. Genet. 2011) 3 4 64

Products for GOSR2 Gene

Sources for GOSR2 Gene

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