Details for: GOSR2

Gene ID: 9570

Symbol: GOSR2

Ensembl ID: ENSG00000108433

Description: golgi SNAP receptor complex member 2

Associated with

Other Information

Genular Protein ID: 86115336

Symbol: GOSR2_HUMAN

Name: Golgi SNAP receptor complex member 2

UniProtKB Accession Codes:

O14653 D3DXJ5 D3DXJ6 Q8N4B8 Q96DA5 Q9BZZ4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 10 EPD 1 Ensembl 3 EvolutionaryTrace 1 ExpressionAtlas 1 GO 15 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 1 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 5 RefSeq 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9349823

Title: A SNARE involved in protein transport through the Golgi apparatus.

PubMed ID: 9349823

DOI: 10.1038/39923

PubMed ID: 10198168

Title: cDNA characterization and chromosomal mapping of human Golgi SNARE GS27 and GS28 to chromosome 17.

PubMed ID: 10198168

DOI: 10.1006/geno.1998.5649

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 18843296

Title: Structural basis of cargo membrane protein discrimination by the human COPII coat machinery.

PubMed ID: 18843296

DOI: 10.1038/emboj.2008.208

PubMed ID: 21549339

Title: A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.

PubMed ID: 21549339

DOI: 10.1016/j.ajhg.2011.04.011

PubMed ID: 24458321

Title: Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.

PubMed ID: 24458321

DOI: 10.1002/mds.25704

PubMed ID: 29855340

Title: TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of alpha-dystroglycan and muscular dystrophy.

PubMed ID: 29855340

DOI: 10.1186/s13395-018-0163-0

PubMed ID: 33639315

Title: Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report.

PubMed ID: 33639315

DOI: 10.1016/j.ejmg.2021.104184

PubMed ID: 34167170

Title: Myopathy can be a key phenotype of membrin (GOSR2) deficiency.

PubMed ID: 34167170

DOI: 10.1002/humu.24247

Sequence Information:

  • Length: 212
  • Mass: 24775
  • Checksum: 4D5585CF858A610F
  • Sequence:
    • MDPLFQQTHK QVHEIQSCMG RLETADKQSV HIVENEIQAS IDQIFSRLER LEILSSKEPP 
NKRQNARLRV DQLKYDVQHL QTALRNFQHR RHAREQQERQ REELLSRTFT TNDSDTTIPM 
DESLQFNSSL QKVHNGMDDL ILDGHNILDG LRTQRLTLKG TQKKILDIAN MLGLSNTVMR 
LIEKRAFQDK YFMIGGMLLT CVVMFLVVQY LT

Genular Protein ID: 1168040749

Symbol: A0A1W2PRL0_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A1W2PRL0

Database IDs:

ARBA 10 Antibodypedia 1 Bgee 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 1 Ensembl 3 GO 7 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 1 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PeptideAtlas 1 Pfam 1 Proteomes 2 RefSeq 2 SAM 1 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

Sequence Information:

  • Length: 194
  • Mass: 22624
  • Checksum: A672D67B68FC8B3A
  • Sequence:
    • MGRLETADKQ SVHIVENEIQ ASIDQIFSRL ERLEILSSKE PPNKRQNARL RVDQLKYDVQ 
HLQTALRNFQ HRRHAREQQE RQREELLSRT FTTNDSDTTI PMDESLQFNS SLQKVHNGMD 
DLILDGHNIL DGLRTQRLTL KGTQKKILDI ANMLGLSNTV MRLIEKRAFQ DKYFMIGGML 
LTCVVMFLVV QYLT

Genular Protein ID: 4077530438

Symbol: A0A1W2PR02_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A1W2PR02

Database IDs:

ARBA 11 Antibodypedia 1 Bgee 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 3 Ensembl 2 GO 6 Gene3D 1 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 2 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 Proteomes 2 RefSeq 1 SAM 1 VEuPathDB 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

Sequence Information:

  • Length: 165
  • Mass: 19497
  • Checksum: E360DA0F8379F358
  • Sequence:
    • MDPLFQQTHK QVHEIQSCMG RLETADKQSV HIVENEIQAS IDQIFSRLER LEILSSKEPP 
NKRQNARLRV DQLKYDVQHL QTALRNFQHR RHAREQQERQ REELLSRTFT TNGTQKKILD 
IANMLGLSNT VMRLIEKRAF QDKYFMIGGM LLTCVVMFLV VQYLT

Genular Protein ID: 100107417

Symbol: I3NI02_HUMAN

Name: N/A

UniProtKB Accession Codes:

I3NI02

Database IDs:

ARBA 7 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 6 Gene3D 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 InterPro 2 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PeptideAtlas 2 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 1 SMR 1 SUPFAM 2 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

Sequence Information:

  • Length: 257
  • Mass: 29813
  • Checksum: A8152EBB96559027
  • Sequence:
    • MDPLFQQTHK QVHEIQSCMG RLETADKQSV HIVENEIQAS IDQIFSRLER LEILSSKEPP 
NKRQNARLRV DQLKYDVQHL QTALRNFQHR RHAREQQERQ REELLSRTFT TNDSDTTIPM 
DESLQFNSSL QKVHNGMDDL ILDGHNILDG LRTQRLTLKG TQKKILDIAN MLGLSNTVMR 
LIEKRAFQDK YFMIETRSHH VAQNGPELLS SRDPPASASR SAGIIGMSHH PDLQIPFELR 
LGFELWFYQL LAVISDQ

Genular Protein ID: 4090227906

Symbol: A0A1W2PQE0_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A1W2PQE0

Database IDs:

ARBA 10 Antibodypedia 1 Bgee 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 1 Ensembl 3 GO 6 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 1 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 Proteomes 2 RefSeq 2 SAM 1 VEuPathDB 1

Citations:

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

Sequence Information:

  • Length: 147
  • Mass: 17345
  • Checksum: 6FE4446AFAABA9E3
  • Sequence:
    • MGRLETADKQ SVHIVENEIQ ASIDQIFSRL ERLEILSSKE PPNKRQNARL RVDQLKYDVQ 
HLQTALRNFQ HRRHAREQQE RQREELLSRT FTTNGTQKKI LDIANMLGLS NTVMRLIEKR 
AFQDKYFMIG GMLLTCVVMF LVVQYLT

Genular Protein ID: 745805512

Symbol: A0A1W2PQM3_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A1W2PQM3

Database IDs:

ARBA 11 AlphaFoldDB 1 Bgee 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 5 Gene3D 1 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 3 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRNR 1 PIRSF 1 PeptideAtlas 2 Pfam 1 Proteomes 2 RefSeq 1 SMR 1 SUPFAM 2 VEuPathDB 1

Citations:

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

Sequence Information:

  • Length: 214
  • Mass: 25174
  • Checksum: 480C926C8691238B
  • Sequence:
    • MDPLFQQTHK QVHEIQSCMG RLETADKQSV HIVENEIQAS IDQIFSRLER LEILSSKEPP 
NKRQNARLRV DQLKYDVQHL QTALRNFQHR RHAREQQERQ REELLSRTFT TNDSDTTIPM 
DESLQFNSSL QKVHNGMDDL ILDGHNILDG LRTQRLTLKG TQKKILDIAN MLGLSNTVMR 
LIEKRAFQDK YFMIEPPKFL SQQESNKDLK RLDI

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.