GPR101 (G protein-coupled receptor 101)

Gene

• Entrez ID: 83550
• Gene name: G protein-coupled receptor 101
• Gene symbol: GPR101
• Synonyms (NCBI Gene): GPCR6, PAGH2, PITA2
• Chromosome: X
• Chromosome location: Xq26.3
• Summary: The protein encoded by this gene is an orphan G protein-coupled receptor of unknown function. The encoded protein is a member of a family of proteins that contain seven transmembrane domains and transduce extracellular signals through heterotrimeric G pro

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1556379508	G>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IBA
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:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0016020	Component	Membrane	IEA
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0043410	Process	Positive regulation of MAPK cascade	IBA
GO:0071880	Process	Adenylate cyclase-activating adrenergic receptor signaling pathway	IBA

Other IDs

• MIM: 300393
• HGNC: 14963
• e!Ensembl: ENSG00000165370

Protein

• UniProt ID: Q96P66
• Protein name: Probable G-protein coupled receptor 101
• Protein function: Orphan receptor.
• PDB: 8W8Q, 8W8R, 8W8S
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	48 → 454	7 transmembrane receptor (rhodopsin family)	Family

• Sequence:

  MTSTCTNSTRESNSSHTCMPLSKMPISLAHGIIRSTVLVIFLAASFVGNIVLALVLQRKP
  QLLQVTNRFIFNLLVTDLLQISLVAPWVVATSVPLFWPLNSHFCTALVSLTHLFAFASVN
  TIVVVSVDRYLSIIHPLSYPSKMTQRRGYLLLYGTWIVAILQSTPPLYGWGQAAFDERNA
  LCSMIWGASPSYTILSVVSFIVIPLIVMIACYSVVFCAARRQHALLYNVKRHSLEVRVKD
  CVENEDEEGAEKKEEFQDESEFRRQHEGEVKAKEGRMEAKDGSLKAKEGSTGTSESSVEA
  RGSEEVRESSTVASDGSMEGKEGSTKVEENSMKADKGRTEVNQCSIDLGEDDMEFGEDDI
  NFSEDDVEAVNIPESLPPSRRNSNSNPPLPRCYQCKAAKVIFIIIFSYVLSLGPYCFLAV
  LAVWVDVETQVPQWVITIIIWLFFLQCCIHPYVYGYMHKTIKKEIQDMLKKFFCKEKPPK
  EDSHPDLPGTEGGTEGKIVPSYDSATFP

• Sequence length: 508

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Pituitary adenoma, growth hormone-secreting, 2	Pathogenic	rs1556379508	RCV000172847	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ACROMEGALY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME XQ26.3 DUPLICATION SYNDROME	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GPR101-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH HORMONE-SECRETING PITUITARY ADENOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-linked acrogigantism due to Xq26 microduplication	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acanthosis Nigricans	Acanthosis Nigricans	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acne	Acne	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	25470569, 26792934, 26815903, 27245663, 30711029		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acromegaly	Acromegaly	ORPHANET_DG	25470569		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acromegaly	Acromegaly	Pubtator	25470569	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acromegaly	Acromegaly	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ACTH-Secreting Pituitary Adenoma	Pituitary adenoma	BEFREE	29396598		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	25470569, 38006624	Associate	★☆☆☆☆ Found in Text Mining only
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	31793912		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital macrodactylia	Congenital macrodactylia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	26797872	Associate	★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	26815903, 29396598		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypersomnia	Hypersomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	26797872		★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30711029		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26797872		★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING	Pituitary adenoma	UNIPROT_DG	25470569		★☆☆☆☆ Found in Text Mining only
PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING	Pituitary adenoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism	Pituitary dwarfism	BEFREE	26797872		★☆☆☆☆ Found in Text Mining only
Pituitary growth hormone cell adenoma	Pituitary adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	25712922, 35202564, 35668434, 38006624	Associate	★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	26982009, 27245663, 35202564, 38006624, 39272130, 40684399	Associate	★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	27756606		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotrophinoma, Familial	Somatotroph adenoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	26797872		★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Talipes transversoplanus	Talipes Transversoplanus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only