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Gene : GNAQ Homo sapiens

Name  ? G protein subunit alpha q Cytological Location  9q21.2
Brief Description  G protein subunit alpha q
Description  This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]
  • synonyms:
  • GNAQ,
  • NM_002072,
  • OTTHUMG00000020059,
  • CMC1,
  • GAQ,
  • HGNC:4390,
  • G-ALPHA-q,
  • uc004akw.5,
  • SWS,
  • G-ALPHA-q,
  • guanine nucleotide binding protein (G protein), q polypeptide,
  • GAQ
  • identifiers:
  • 2776,
  • ENSG00000156052,
  • GNAQ

Genome feature

Region: gene ? Length: 315715  
Location: 9:77716097-78031811 reverse strand Cyto location: 9q21.2


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3753 SN Ps

5 Cross References

20 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results