GTR Home > Genes

GNA11 G protein subunit alpha 11

Gene ID: 2767, updated on 5-Jan-2022
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

DescriptionTests
Hypocalcemia, autosomal dominant 2
MedGen: C3809243OMIM: 615361GeneReviews: Not available
See labs
Hypocalciuric hypercalcemia, familial, type II
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

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center