GNA11 G protein subunit alpha 11

Gene ID: 2767, updated on 17-Sep-2024
Gene type: protein coding
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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Autosomal dominant hypocalcemia 2 MedGen: C3809243OMIM: 615361GeneReviews: Not available	See labs
Familial hypocalciuric hypercalcemia 2 MedGen: C1840347OMIM: 145981GeneReviews: Not available	See labs

Genomic context

Location:: 19p13.3

Sequence:: Chromosome: 19; NC_000019.10 (3094362..3123999)

Total number of exons:: 7

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for GNA11 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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