Gene Gene information from NCBI Gene database.
Entrez ID 51704
Gene name G protein-coupled receptor class C group 5 member B
Gene symbol GPRC5B
Synonyms (NCBI Gene)
MLC3RAIG-2RAIG2
Chromosome 16
Chromosome location 16p12.3
Summary This gene encodes a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The encoded protein may modulate insulin secretion and increased protein expression is a
miRNA miRNA information provided by mirtarbase database.
50
miRTarBase ID miRNA Experiments Reference
MIRT557471 hsa-miR-218-5p PAR-CLIP 21572407
MIRT557470 hsa-miR-4712-3p PAR-CLIP 21572407
MIRT557469 hsa-miR-636 PAR-CLIP 21572407
MIRT557468 hsa-miR-2113 PAR-CLIP 21572407
MIRT498385 hsa-miR-4523 PAR-CLIP 22291592
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0001664 Function G protein-coupled receptor binding ISS
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0005615 Component Extracellular space HDA 16502470
GO:0005654 Component Nucleoplasm IDA
GO:0005730 Component Nucleolus IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605948 13308 ENSG00000167191
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NZH0
Protein name G-protein coupled receptor family C group 5 member B (A-69G12.1) (Retinoic acid-induced gene 2 protein) (RAIG-2)
Protein function G-protein coupled receptor involved in the regulation of cell volume.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00003 7tm_3 67 294 7 transmembrane sweet-taste receptor of 3 GCPR Family
Tissue specificity TISSUE SPECIFICITY: Expression is high in kidney, pancreas, and testis, medium in brain, heart, prostate, small intestine, and spleen, low in liver, placenta, skeletal muscle, colon, ovary, and thymus, and not detectable in lung and peripheral leukocyte.
Sequence
MFVASERKMRAHQVLTFLLLFVITSVASENASTSRGCGLDLLPQYVSLCDLDAIWGIVVE
AVAGAGALITLLLMLILLVRLPFIKEKEKKSPVGLHFLFLLGTLGLFGLTFAFIIQEDET
ICSVRRFLWGVLFALCFSCLLSQAWRVRRLVRHGTGPAGWQLVGLALCLMLVQVIIAVEW
LVLTVLRDTRPACAYEPMDFVMALIYDMVLLVVTLGLALFTLCGKFKRWKLNGAFLLITA
FLSVLIWVAWMTMYLFGNVKLQQGDAWNDPTLAITLAASGWVFVIFHAIPEIHC
TLLPAL
QENTPNYFDTSQPRMRETAFEEDVQLPRAYMENKAFSMDEHNAALRTAGFPNGSLGKRPS
GSLGKRPSAPFRSNVYQPTEMAVVLNGGTIPTAPPSHTGRHLW
Sequence length 403
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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
Megalencephalic leukoencephalopathy with subcortical cysts 3 Pathogenic rs2506973258, rs2506973246 RCV003315380
RCV003315381
★★★★☆
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
ANAL POLYP GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alzheimer Disease Associate 34857756
★☆☆☆☆
Found in Text Mining only
Brain Edema Associate 37143309
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Associate 34857756
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Inhibit 35046932
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Associate 37686013
★☆☆☆☆
Found in Text Mining only
Hereditary pancreatitis Stimulate 36682796
★☆☆☆☆
Found in Text Mining only
Insulin Resistance Associate 36682796
★☆☆☆☆
Found in Text Mining only
Megalencephalic leukoencephalopathy with subcortical cysts Associate 37143309
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 31659097, 36682796
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Associate 36682796
★☆☆☆☆
Found in Text Mining only