GNA11 G protein subunit alpha 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GNA11provided by HGNC
Official Full Name: G protein subunit alpha 11provided by HGNC
Primary source: HGNC:HGNC:4379
See related: Ensembl:ENSG00000088256 MIM:139313; AllianceGenome:HGNC:4379
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FBH; FBH2; FHH2; HG1K; HHC2; GNA-11; HYPOC2
Summary: The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]
Expression: Broad expression in small intestine (RPKM 57.6), duodenum (RPKM 46.4) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (3094362..3123999)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (3068114..3097735)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (3094360..3123997)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
Title: GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
Double somatic mutations in CTNNB1 and GNA11 in an aldosterone-producing adenoma.
Title: Double somatic mutations in CTNNB1 and GNA11 in an aldosterone-producing adenoma.
Papillary Hemangioma Harbors Somatic GNA11 and GNAQ Mutations.
Title: Papillary Hemangioma Harbors Somatic GNA11 and GNAQ Mutations.
GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.
Title: GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.
Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11.
Title: Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11.
GNA11-mutated Sturge-Weber syndrome has distinct neurological and dermatological features.
Title: GNA11-mutated Sturge-Weber syndrome has distinct neurological and dermatological features.
Genomic Profiling of Metastatic Uveal Melanoma Shows Frequent Coexisting BAP1 or SF3B1 and GNAQ/GNA11 Mutations and Correlation With Prognosis.
Title: Genomic Profiling of Metastatic Uveal Melanoma Shows Frequent Coexisting BAP1 or SF3B1 and GNAQ/GNA11 Mutations and Correlation With Prognosis.
In uveal melanoma Galpha-protein GNA11 mutations convey a shorter disease-specific survival and are more strongly associated with loss of BAP1 and chromosomal alterations than Galpha-protein GNAQ mutations.
Title: In uveal melanoma Gα-protein GNA11 mutations convey a shorter disease-specific survival and are more strongly associated with loss of BAP1 and chromosomal alterations than Gα-protein GNAQ mutations.
Mixed vascular naevus syndrome: report of three children with somatic GNA11 mutation and new systemic associations.
Title: Mixed vascular naevus syndrome: report of three children with somatic GNA11 mutation and new systemic associations.
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.
Title: Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.

Submit: New GeneRIF Correction See all GeneRIFs (94)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal dominant hypocalcemia 2 MedGen: C3809243 OMIM: 615361 GeneReviews: Not available	not available
Familial hypocalciuric hypercalcemia 2 MedGen: C1840347 OMIM: 145981 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	PLC-beta activation and intracellular Ca2+ release are required for HIV-1 gp120-mediated Rac-1 activation and membrane fusion via the G-alpha(q/11) family of G proteins	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79805 (e-PCR)
- UniSTS:87495

RH47293 (e-PCR)
- UniSTS:34765

NoName (e-PCR)
- UniSTS:483833

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein activity	IEA Inferred from Electronic Annotation more info
enables G protein-coupled receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables G-protein beta/gamma-subunit complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP binding	TAS Traceable Author Statement more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	TAS Traceable Author Statement more info
enables enzyme regulator activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled acetylcholine receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to pH	IEA Inferred from Electronic Annotation more info
involved_in cranial skeletal system development	IEA Inferred from Electronic Annotation more info
involved_in developmental pigmentation	IEA Inferred from Electronic Annotation more info
involved_in endothelin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in entrainment of circadian clock	ISS Inferred from Sequence or Structural Similarity more info
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in ion channel modulating, G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in ligand-gated ion channel signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in phospholipase C-activating dopamine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in phototransduction, visible light	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in regulation of melanocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in skeletal system development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
part_of heterotrimeric G-protein complex	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal membrane	HDA more info	PubMed
located_in photoreceptor outer segment	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: guanine nucleotide-binding protein subunit alpha-11

Names: g alpha-11; guanine nucleotide binding protein (G protein), alpha 11 (Gq class); guanine nucleotide-binding protein G(y) subunit alpha; heterotrimeric guanine nucleotide-binding protein 1K

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.