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	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acromegaly	Acromegaly	BEFREE	29678281		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	30918115		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29727602		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	15452587, 16389273, 20371266		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	15452587, 16389273, 20371266		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	12898236	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22912338		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28425521		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	16575208	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31280219		★☆☆☆☆ Found in Text Mining only
Congenital hypotrichia	Congenital Hypotrichia	BEFREE	18803659		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31189666		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29608652		★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	BEFREE	18803659		★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	Pubtator	18803659	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	10802050		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	25213837	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31127149		★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	Pubtator	37653344	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12601349, 12898236		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	15452587, 16389273		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	15452587, 16389273		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	PSYGENET_DG	15452587, 16389273		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	15452587, 16389273		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	15452587, 16389273		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22912338		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19552806, 20818416, 22591013, 28612367		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	18075476		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22591013, 30918115, 31270154, 31808859, 31847470		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	23510526, 33089218, 33890981, 34471932, 37277826, 37653344, 38035078, 40547010, 40665393	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22330140, 23510526, 27415424		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16575208	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	19218498		★☆☆☆☆ Found in Text Mining only
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	Polymicrogyria	BEFREE	17575113		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	26824665		★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	38100482	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19796684		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	22912338		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	15916848		★☆☆☆☆ Found in Text Mining only