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MGP001241

Record overview

MGPD IDMGP001241
Gene ID2767
SpeciesHomo sapiens (Human)
Gene Nameguanine nucleotide binding protein (G protein), alpha 11 (Gq class)
Gene Symbol GNA11
SynonymsFBH; FBH2; FHH2; HHC2; GNA-11; HYPOC2;
Alternate namesguanine nucleotide-binding protein subunit alpha-11; G-protein subunit alpha-11; g alpha-11; guanine nucleotide-binding protein G(y) subunit alpha;
Chromosome19
Map Location19p13.3
SummaryThe 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]
OrthologsView orthologs and multiple alignments for GNA11

Proteins

guanine nucleotide-binding protein subunit alpha-11
Refseq ID:NP_002058
Protein GI:115511049
UniProt ID:P29992
mRNA ID:NM_002067
Length:359
RefSeq Status:
MTLESMMACCLSDEVKESKRINAEIEKQLRRDKRDARRELKLLLLGTGESGKSTFIKQMRIIHGAGYSEEDKRGFTKLVYQNIFTAMQAMIRAMETLKIL
YKYEQNKANALLIREVDVEKVTTFEHQYVSAIKTLWEDPGIQECYDRRREYQLSDSAKYYLTDVDRIATLGYLPTQQDVLRVRVPTTGIIEYPFDLENII
FRMVDVGGQRSERRKWIHCFENVTSIMFLVALSEYDQVLVESDNENRMEESKALFRTIITYPWFQNSSVILFLNKKDLLEDKILYSHLVDYFPEFDGPQR
DAQAAREFILKMFVDLNPDSDKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV
 
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