GPRC5D (G protein-coupled receptor class C group 5 member D)

Gene

• Entrez ID: 55507
• Gene name: G protein-coupled receptor class C group 5 member D
• Gene symbol: GPRC5D
• Synonyms (NCBI Gene): -
• Chromosome: 12
• Chromosome location: 12p13.1
• Summary: The protein encoded by this gene is a member of the G protein-coupled receptor family; however, the specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	11311935
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0016020	Component	Membrane	IEA
GO:0030295	Function	Protein kinase activator activity	IBA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0043235	Component	Receptor complex	IBA
GO:0070062	Component	Extracellular exosome	IBA

Other IDs

• MIM: 607437
• HGNC: 13310
• e!Ensembl: ENSG00000111291

Protein

• UniProt ID: Q9NZD1
• Protein name: G-protein coupled receptor family C group 5 member D
• Protein function: G-protein coupled receptor involved in hard keratin expression and likely plays a role in the development of hair and nails.
• PDB: 8YZK, 9IMA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00003	7tm_3	28 → 264	7 transmembrane sweet-taste receptor of 3 GCPR	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed in the peripheral system. Expression pattern is high in pancreas, medium in kidney, small intestine, spleen and testis, low in lung, colon, leukocyte, prostate and thymus and not detectable in brain, heart, liver, plac
• Sequence:

  MYKDCIESTGDYFLLCDAEGPWGIILESLAILGIVVTILLLLAFLFLMRKIQDCSQWNVL
  PTQLLFLLSVLGLFGLAFAFIIELNQQTAPVRYFLFGVLFALCFSCLLAHASNLVKLVRG
  CVSFSWTTILCIAIGCSLLQIIIATEYVTLIMTRGMMFVNMTPCQLNVDFVVLLVYVLFL
  MALTFFVSKATFCGPCENWKQHGRLIFITVLFSIIIWVVWISMLLRGNPQFQRQPQWDDP
  VVCIALVTNAWVFLLLYIVPELCILYRSCRQECPLQGNACPVTAYQHSFQVENQELSRAR
  DSDGAEEDVALTSYGTPIQPQTVDPTQECFIPQAKLSPQQDAGGV

• Sequence length: 345

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Carcinoma Hepatocellular	Associate	12898236	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Associate	16575208	★☆☆☆☆ Found in Text Mining only
Cytokine Release Syndrome	Associate	40547010	★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Associate	18803659	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Associate	25213837	★☆☆☆☆ Found in Text Mining only
Leukemia Plasma Cell	Associate	39676854	★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Inhibit	37653344	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Associate	23510526, 33089218, 33890981, 34471932, 37277826, 37653344, 38035078, 40547010, 40665393	★☆☆☆☆ Found in Text Mining only
Muscular Atrophy	Associate	38100482	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	23510526, 27340777, 37277826, 40009503	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	16575208	★☆☆☆☆ Found in Text Mining only
Ring Chromosome 20 Syndrome	Associate	37277826	★☆☆☆☆ Found in Text Mining only
Sarcoma Myeloid	Associate	40547010	★☆☆☆☆ Found in Text Mining only
Sarcopenia	Associate	38100482	★☆☆☆☆ Found in Text Mining only