Human Gene GOSR2 (ENST00000640051.2_10) from GENCODE V47lift37
  Description: golgi SNAP receptor complex member 2, transcript variant A (from RefSeq NM_004287.5)
Gencode Transcript: ENST00000640051.2_10
Gencode Gene: ENSG00000108433.17_17
Transcript (Including UTRs)
   Position: hg19 chr17:45,000,526-45,019,386 Size: 18,861 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr17:45,000,559-45,016,126 Size: 15,568 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:45,000,526-45,019,386)mRNA (may differ from genome)Protein (212 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GOSR2_HUMAN
DESCRIPTION: RecName: Full=Golgi SNAP receptor complex member 2; AltName: Full=27 kDa Golgi SNARE protein; AltName: Full=Membrin;
FUNCTION: Involved in transport of proteins from the cis/medial- Golgi to the trans-Golgi network.
SUBUNIT: Identified in a unique SNARE complex composed of the Golgi SNAREs GOSR1, STX5 and YKT6 (By similarity).
SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type IV membrane protein (Potential).
DISEASE: Defects in GOSR2 are the cause of progressive myoclonic epilepsy type 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.
SIMILARITY: Belongs to the GOSR2 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GOSR2
Diseases sorted by gene-association score: epilepsy, progressive myoclonic 6* (1579), gosr2-related progressive myoclonus ataxia* (500), growth hormone deficiency, isolated, type ii (10), progressive myoclonus epilepsy (9)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.8033-0.509 Picture PostScript Text
3' UTR -1073.403260-0.329 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF12352 - Snare region anchored in the vesicle membrane C-terminus

SCOP Domains:
47661 - t-snare proteins
58038 - SNARE fusion complex

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3EG9 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O14653
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000149 SNARE binding
GO:0005484 SNAP receptor activity
GO:0005515 protein binding

Biological Process:
GO:0006623 protein targeting to vacuole
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0006891 intra-Golgi vesicle-mediated transport
GO:0006896 Golgi to vacuole transport
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0036498 IRE1-mediated unfolded protein response
GO:0042147 retrograde transport, endosome to Golgi
GO:0048208 COPII vesicle coating
GO:0048280 vesicle fusion with Golgi apparatus

Cellular Component:
GO:0000139 Golgi membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0012507 ER to Golgi transport vesicle membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031201 SNARE complex
GO:0031902 late endosome membrane
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane


-  Descriptions from all associated GenBank mRNAs
  AK303650 - Homo sapiens cDNA FLJ61028 complete cds, highly similar to Golgi SNAP receptor complex member 2.
KJ892806 - Synthetic construct Homo sapiens clone ccsbBroadEn_02200 GOSR2 gene, encodes complete protein.
AK290890 - Homo sapiens cDNA FLJ77098 complete cds, highly similar to Homo sapiens golgi SNAP receptor complex member 2 (GOSR2), transcript variant C, mRNA.
BC009710 - Homo sapiens golgi SNAP receptor complex member 2, mRNA (cDNA clone MGC:9419 IMAGE:3890308), complete cds.
AF229796 - Homo sapiens golgi SNARE isoform B (GOSR2) mRNA, complete cds, alternatively spliced.
BC034762 - Homo sapiens golgi SNAP receptor complex member 2, mRNA (cDNA clone MGC:35391 IMAGE:5185659), complete cds.
CU679451 - Synthetic construct Homo sapiens gateway clone IMAGE:100018024 5' read GOSR2 mRNA.
DQ891461 - Synthetic construct clone IMAGE:100004091; FLH177138.01X; RZPDo839D06124D golgi SNAP receptor complex member 2 (GOSR2) gene, encodes complete protein.
DQ894638 - Synthetic construct Homo sapiens clone IMAGE:100009098; FLH177135.01L; RZPDo839D06123D golgi SNAP receptor complex member 2 (GOSR2) gene, encodes complete protein.
AF007548 - Homo sapiens golgi SNARE (GS27) mRNA, complete cds.
DQ589208 - Homo sapiens piRNA piR-56320, complete sequence.
JD116556 - Sequence 97580 from Patent EP1572962.
JD404195 - Sequence 385219 from Patent EP1572962.
JD305687 - Sequence 286711 from Patent EP1572962.
JD177778 - Sequence 158802 from Patent EP1572962.
JD120293 - Sequence 101317 from Patent EP1572962.
JD451796 - Sequence 432820 from Patent EP1572962.
JD297390 - Sequence 278414 from Patent EP1572962.
JD250021 - Sequence 231045 from Patent EP1572962.
DQ591600 - Homo sapiens piRNA piR-58712, complete sequence.
JD213393 - Sequence 194417 from Patent EP1572962.
JD213395 - Sequence 194419 from Patent EP1572962.
JD399338 - Sequence 380362 from Patent EP1572962.
JD152361 - Sequence 133385 from Patent EP1572962.
JD213396 - Sequence 194420 from Patent EP1572962.
JD407681 - Sequence 388705 from Patent EP1572962.
JD463302 - Sequence 444326 from Patent EP1572962.
JD463303 - Sequence 444327 from Patent EP1572962.
JD463304 - Sequence 444328 from Patent EP1572962.
JD413832 - Sequence 394856 from Patent EP1572962.
JD413833 - Sequence 394857 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O14653 (Reactome details) participates in the following event(s):

R-HSA-5694425 NSF ATPase activity dissociates cis-SNARE
R-HSA-5694446 BET1:GOSR2:STX5 bind v-SNARES on tethered vesicle
R-HSA-5694413 SEC4C,D bind GOSR2 and STX5
R-HSA-6811433 The COG tethering complex interacts with numerous SNAREs at the Golgi membrane
R-HSA-5694423 NSF and SNAPs bind cis-SNARE complex
R-HSA-6809011 cis-Golgi t-SNAREs bind YKT6 on tethered vesicle
R-HSA-5694522 Inner coat assembly and cargo binding
R-HSA-5694527 Loss of SAR1B GTPase
R-HSA-6809014 cis-Golgi cis-SNARE binds NSF and SNAPs
R-HSA-5694417 SEC16 complex binds SAR1B:GTP:SEC23:SEC24
R-HSA-5694441 CSNK1D phosphorylates SEC23
R-HSA-5694439 COPII coat binds TRAPPCII and RAB1:GDP
R-HSA-203973 Vesicle budding
R-HSA-204008 SEC31:SEC13 and v-SNARE recruitment
R-HSA-5694418 RAB1:GTP binds USO1 and GORASP1:GOLGA2
R-HSA-5694409 Nucleotide exchange on RAB1
R-HSA-381038 XBP1(S) activates chaperone genes
R-HSA-204005 COPII-mediated vesicle transport
R-HSA-6807878 COPI-mediated anterograde transport
R-HSA-381070 IRE1alpha activates chaperones
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-5694530 Cargo concentration in the ER
R-HSA-6811438 Intra-Golgi traffic
R-HSA-381119 Unfolded Protein Response (UPR)
R-HSA-199991 Membrane Trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-392499 Metabolism of proteins
R-HSA-5653656 Vesicle-mediated transport
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification

-  Other Names for This Gene
  Alternate Gene Symbols: D3DXJ5, D3DXJ6, ENST00000640051.1, GOSR2_HUMAN, GS27, NM_004287, O14653, Q8N4B8, Q96DA5, Q9BZZ4, uc328gca.1, uc328gca.2
UCSC ID: ENST00000640051.2_10
RefSeq Accession: NM_004287.5
Protein: O14653 (aka GOSR2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.