Gene Gene information from NCBI Gene database.
Entrez ID 2767
Gene name G protein subunit alpha 11
Gene symbol GNA11
Synonyms (NCBI Gene)
FBHFBH2FHH2GNA-11HG1KHHC2HYPOC2
Chromosome 19
Chromosome location 19p13.3
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.
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs140749796 C>G,T Pathogenic Missense variant, synonymous variant, coding sequence variant
rs587777019 T>A Pathogenic Coding sequence variant, missense variant
rs587777020 G>A Pathogenic Coding sequence variant, missense variant
rs587777021 C>T Pathogenic Coding sequence variant, missense variant
rs587777022 C>G,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
4
miRTarBase ID miRNA Experiments Reference
MIRT2003165 hsa-miR-1253 CLIP-seq
MIRT2003166 hsa-miR-18a CLIP-seq
MIRT2003167 hsa-miR-18b CLIP-seq
MIRT2003168 hsa-miR-4735-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
58
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001501 Process Skeletal system development IEA
GO:0001508 Process Action potential IBA
GO:0001508 Process Action potential IEA
GO:0001664 Function G protein-coupled receptor binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
139313 4379 ENSG00000088256
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P29992
Protein name Guanine nucleotide-binding protein subunit alpha-11 (G alpha-11) (G-protein subunit alpha-11) (EC 3.6.5.-) (Guanine nucleotide-binding protein G(y) subunit alpha)
Protein function Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:31073061). The alpha chain contains the guanine nucleotide binding site and alterna
PDB 6OIJ , 7RKF , 7TRY , 7XXH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00503 G-alpha 16 348 G-protein alpha subunit Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in testis. {ECO:0000269|PubMed:18703424}.
Sequence
Sequence length 359
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Calcium signaling pathway
cGMP-PKG signaling pathway
Hormone signaling
Vascular smooth muscle contraction
Gap junction
Cholinergic synapse
Long-term depression
Insulin secretion
GnRH signaling pathway
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Parathyroid hormone synthesis, secretion and action
GnRH secretion
Cushing syndrome
Growth hormone synthesis, secretion and action
Chagas disease
Amoebiasis
Human cytomegalovirus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
  Acetylcholine regulates insulin secretion
G alpha (q) signalling events
ADP signalling through P2Y purinoceptor 1
Thromboxane signalling through TP receptor
Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
Thrombin signalling through proteinase activated receptors (PARs)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
31
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autosomal dominant hypocalcemia 2 Likely pathogenic; Pathogenic rs1335558363, rs587777707, rs140749796, rs587777021, rs587777022 RCV005014615
RCV000144048
RCV000054477
RCV000054478
RCV000054479
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hypocalciuric hypercalcemia 2 Likely pathogenic; Pathogenic rs1335558363, rs672601249, rs587777019, rs587777021 RCV001706737
RCV000054474
RCV000054475
RCV002504951
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm Likely pathogenic; Pathogenic rs1057519742 RCV005230290
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary renal cell carcinoma type 1 Likely pathogenic rs2145326448 RCV005931964
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANASTOMOSING HAEMANGIOMA Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT HYPOCALCEMIA Disgenet, GenCC, Orphanet
Disgenet, GenCC, Orphanet
Disgenet, GenCC, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CALCIUM METABOLISM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Capillary malformation Conflicting classifications of pathogenicity ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alopecia Alopecia HPO_DG
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Atypical Ductal Breast Hyperplasia Breast Hyperplasia BEFREE 24708097, 24823460, 27334330, 27647839
★☆☆☆☆
Found in Text Mining only
Autosomal dominant hypocalcemia Hypocalcemia BEFREE 23802516, 24708097, 31820785
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal dominant hypocalcemia Hypocalcemia ORPHANET_DG 23802516
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal dominant hypocalcemia Hypocalcemia Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 29206651
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24297604 Associate
★☆☆☆☆
Found in Text Mining only
Calcium pyrophosphate deposition disease Chondrocalcinosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Capillary malformation (disorder) Capillary malformation BEFREE 28120216
★☆☆☆☆
Found in Text Mining only