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GNAQ information


GNAQ
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesGNAQ, CMC1, G-ALPHA-q, GAQ, SWS, G protein subunit alpha q
External IDsOMIM: 600998 MGI: 95776 HomoloGene: 1566 GeneCards: GNAQ
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002072

NM_008139

RefSeq (protein)

NP_002063
NP_002063.2

NP_032165

Location (UCSC)Chr 9: 77.72 – 78.03 MbChr 19: 16.11 – 16.36 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Guanine nucleotide-binding protein G(q) subunit alpha is a protein that in humans is encoded by the GNAQ gene.[5] Together with GNA11 (its paralogue), it functions as a Gq alpha subunit.[6]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000156052 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024639 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Dong Q, Shenker A, Way J, Haddad BR, Lin K, Hughes MR, McBride OW, Spiegel AM, Battey J (February 1997). "Molecular cloning of human G alpha q cDNA and chromosomal localization of the G alpha q gene (GNAQ) and a processed pseudogene". Genomics. 30 (3): 470–75. doi:10.1006/geno.1995.1267. PMID 8825633.
  6. ^ 139313 GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-11; GNA11 at OMIM. Retrieved January 1, 2015.

and 17 Related for: GNAQ information

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GNAQ

Last Update:

protein G(q) subunit alpha is a protein that in humans is encoded by the GNAQ gene. Together with GNA11 (its paralogue), it functions as a Gq alpha subunit...

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Gq alpha subunit

Last Update:

distinct proteins in the Gq alpha subunit family: Gαq is encoded by the gene GNAQ. Gα11 is encoded by the gene GNA11. Gα14 is encoded by the gene GNA14. Gα15...

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Cherry angioma

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endothelial cells. A study published in 2019 identified that somatic mutations in GNAQ and GNA11 genes are present in many cherry angiomas. These specific missense...

Word Count : 1804

Uveal melanoma

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frequently harbor GNAQ/GNA11 mutations, a trait shared with blue nevi, nevus of Ota, and ocular melanosis. As seen in BRAF, mutations in GNAQ/GNA11 are early...

Word Count : 3520

Epilepsy

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Sturge-Weber syndrome is caused by an activating somatic mutation in the GNAQ gene and it affects approximately 1 in 20,000–50,000 live births. The mutation...

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Selumetinib

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deficits during treatment. Selumetinib has also been shown to inhibit growth of GNAQ mutated uveal melanoma cell lines. Furthermore, preliminary results suggest...

Word Count : 2184

GNA11

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is a protein that in humans is encoded by the GNA11 gene. Together with GNAQ (its paralogue), it functions as a Gq alpha subunit. Gq alpha subunit GRCh38:...

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Diffuse capillary malformation with overgrowth

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in the GNAQ gene. Capillary malformations consist of endothelial cells that have a missense mutation in this gene at p.R183L and p.R183G. GNAQ gene encodes...

Word Count : 1920

Heterotrimeric G protein

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receptors Smell Gq-family (InterPro: IPR000654) Gq αq, α11, α14, α15, α16 GNAQ, GNA11, GNA14, GNA15 Activation of phospholipase C α1-Adrenoreceptors, Muscarinic...

Word Count : 1237

Digital polymerase chain reaction

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"Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome". Scientific Reports. 6 (1): 22985. Bibcode:2016NatSR...

Word Count : 7330

Choroidal nevus

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identified to be associated with metastasis in uveal melanomas. Moreover BAP1, GNAQ, GNA11, SF3B1 and EIF1AX gene alterations were shown to be in correlation...

Word Count : 2700

Phakomatosis

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000 live births and is caused by a somatic activating mutation in GNAQ. Normally, GNAQ is involved in cell growth signal transmission. It is classically...

Word Count : 7006

List of genes mutated in cutaneous conditions

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heteroplasia Plate-like osteoma cutis Albright's hereditary osteodystrophy GNAQ Blue nevus Uveal melanoma Port-wine stain Sturge-weber syndrome GTF2H5 (TFBS)...

Word Count : 108

RGS20

Last Update:

are GTPase-activating proteins for Gi (see GNAI1; MIM 139310) and Gq (see GNAQ; MIM 600998) class G-alpha proteins. They accelerate transit through the...

Word Count : 799

RGS4

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peptides CCG-4986 RGS4 has been shown to interact with: COPB2, ERBB3, and GNAQ. GRCh38: Ensembl release 89: ENSG00000117152 – Ensembl, May 2017 GRCm38:...

Word Count : 2276

RGS16

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in the phototransduction cascade. RGS16 has been shown to interact with GNAQ and GNAI3. GRCh38: Ensembl release 89: ENSG00000143333 – Ensembl, May 2017...

Word Count : 1521

RIC8A

Last Update:

encoded by the RIC8A gene. RIC8A has been shown to interact with GNAO1, GNA13, GNAQ, GNAS complex locus, GNAI2, GNAI1 and GNAI3. GRCh38: Ensembl release 89:...

Word Count : 931

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