GNA11

Protein identityUniProt · HPA

UniProt accession

P29992

Gene

GNA11

Ensembl

ENSG00000088256

Chromosome

19

Canonical length

359 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

359 residues, UniProt reviewed canonical sequence.

>P29992|GNA11
     1  MTLESMMACC LSDEVKESKR INAEIEKQLR RDKRDARREL KLLLLGTGES GKSTFIKQMR
    61  IIHGAGYSEE DKRGFTKLVY QNIFTAMQAM IRAMETLKIL YKYEQNKANA LLIREVDVEK
   121  VTTFEHQYVS AIKTLWEDPG IQECYDRRRE YQLSDSAKYY LTDVDRIATL GYLPTQQDVL
   181  RVRVPTTGII EYPFDLENII FRMVDVGGQR SERRKWIHCF ENVTSIMFLV ALSEYDQVLV
   241  ESDNENRMEE SKALFRTIIT YPWFQNSSVI LFLNKKDLLE DKILYSHLVD YFPEFDGPQR
   301  DAQAAREFIL KMFVDLNPDS DKIIYSHFTC ATDTENIRFV FAAVKDTILQ LNLKEYNLV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GNA11 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

131 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GNA11.

Disease | AllUniProt

Conditions GNA11 is implicated in, by any mechanism.

• Hypocalciuric hypercalcemia, familial 2 (HHC2) MIM:145981
• Hypocalcemia, autosomal dominant 2 (HYPOC2) MIM:615361

Disease | GeneticClinVar

23 pathogenic / likely-pathogenic of 435 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Familial hypocalciuric hypercalcemia 2
• Autosomal dominant hypocalcemia 2
• See cases
• Neoplasm
• Papillary renal cell carcinoma type 1

ReferencesPubMed · IEDB

Publications for GNA11 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.4

gnomAD pLI

0.89

gnomAD missense Z

3.77

DepMap mean gene effect

-0.15

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• action potential
• adenylate cyclase-modulating G protein-coupled receptor signaling pathway
• cellular response to pH
• cranial skeletal system development
• developmental pigmentation
• endothelin receptor signaling pathway
• entrainment of circadian clock
• G protein-coupled acetylcholine receptor signaling pathway
• heart development
• ligand-gated ion channel signaling pathway
• phospholipase C-activating dopamine receptor signaling pathway
• phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway
• phospholipase C-activating G protein-coupled receptor signaling pathway
• phototransduction, visible light
• positive regulation of insulin secretion
• regulation of blood pressure
• signal transduction
• skeletal system development
• regulation of melanocyte differentiation

Molecular functions

• enzyme regulator activity
• G protein activity
• G protein-coupled receptor binding
• G-protein beta/gamma-subunit complex binding
• GTP binding
• GTPase activity
• metal ion binding

Cellular components

• cytoplasm
• extracellular exosome
• heterotrimeric G-protein complex
• lysosomal membrane
• photoreceptor outer segment
• plasma membrane
• synapse

Protein domainsUniProt · Pfam · InterPro

• G-protein alpha subunit, group Q
• Guanine nucleotide binding protein, alpha subunit
• G protein alpha subunit, helical insertion
• P-loop containing nucleoside triphosphate hydrolase
• G-protein alpha subunit

KeywordsUniProt

• ADP-ribosylation
• Cell membrane
• Cytoplasm
• GTP-binding
• Host-virus interaction
• Hydrolase
• Lipoprotein
• Magnesium
• Membrane
• Metal-binding
• Nucleotide-binding
• Palmitate
• Transducer

InteractionsUniProt · HPA

Protein binding partners of GNA11 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NTSR1
• RGS22
• F2RL1
• ARHGEF25
• GNB1