Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8111
Gene name	G protein-coupled receptor 68
Gene symbol	GPR68
Synonyms (NCBI Gene)	AI2A6GPR12AOGR1
Chromosome	14
Chromosome location	14q32.11
Summary	The protein encoded by this gene is a G protein-coupled receptor for sphingosylphosphorylcholine. The encoded protein is a proton-sensing receptor, inactive at pH 7.8 but active at pH 6.8. Mutations in this gene are a cause of amelogenesis imperfecta. [pr

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057517671	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057517672	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555409827	TTGAAGCTGGTGAGCAGGAGGGAGAAGTGGTAGGCGTTGAAAACGCCCTTGGCGAAGTCGCAGCTGGCCTCCCAGACGCTGCGCACCAGCAGCAACACGTGGTAGGGCAGGAAGCAGGCCAGGAAGATGACCACGGTGCTGAGCACCAGCCGCTGGATCTGGTCCTTGCGGCTCTTCTGGGTGCCGTGGCTCCGGCGCACGGCGCGCAGGATGCCCTGGTAGGACGCCAGCAGCAGGCAGATGGGGAAGAGGAAG	Pathogenic	Inframe deletion, coding sequence variant

Show/Hide all (89)

miRTarBase ID	miRNA	Experiments
MIRT1031769	hsa-miR-145	CLIP-seq
MIRT1031770	hsa-miR-3166	CLIP-seq
MIRT1031771	hsa-miR-3678-3p	CLIP-seq
MIRT1031772	hsa-miR-3922-5p	CLIP-seq
MIRT1031773	hsa-miR-4494	CLIP-seq
MIRT1031774	hsa-miR-4499	CLIP-seq
MIRT1031775	hsa-miR-4714-3p	CLIP-seq
MIRT1031776	hsa-miR-4771	CLIP-seq
MIRT1031777	hsa-miR-935	CLIP-seq
MIRT1031778	hsa-miR-2278	CLIP-seq
MIRT1031779	hsa-miR-24	CLIP-seq
MIRT1031772	hsa-miR-3922-5p	CLIP-seq
MIRT1031780	hsa-miR-4437	CLIP-seq
MIRT1031775	hsa-miR-4714-3p	CLIP-seq
MIRT1031781	hsa-miR-545	CLIP-seq
MIRT2006021	hsa-miR-342-3p	CLIP-seq
MIRT2006022	hsa-miR-3909	CLIP-seq
MIRT2006023	hsa-miR-4695-5p	CLIP-seq
MIRT2006024	hsa-miR-4716-5p	CLIP-seq
MIRT2006025	hsa-miR-766	CLIP-seq
MIRT1031770	hsa-miR-3166	CLIP-seq
MIRT2388673	hsa-miR-3616-5p	CLIP-seq
MIRT2388674	hsa-miR-3647-5p	CLIP-seq
MIRT1031771	hsa-miR-3678-3p	CLIP-seq
MIRT1031773	hsa-miR-4494	CLIP-seq
MIRT1031774	hsa-miR-4499	CLIP-seq
MIRT1031776	hsa-miR-4771	CLIP-seq
MIRT2388675	hsa-miR-4795-5p	CLIP-seq
MIRT2388676	hsa-miR-573	CLIP-seq
MIRT2542459	hsa-miR-1269	CLIP-seq
MIRT2542460	hsa-miR-1269b	CLIP-seq
MIRT2542461	hsa-miR-1288	CLIP-seq
MIRT2542462	hsa-miR-147	CLIP-seq
MIRT2542463	hsa-miR-1972	CLIP-seq
MIRT2542464	hsa-miR-199a-5p	CLIP-seq
MIRT2542465	hsa-miR-199b-5p	CLIP-seq
MIRT2542466	hsa-miR-219-1-3p	CLIP-seq
MIRT1031779	hsa-miR-24	CLIP-seq
MIRT2542467	hsa-miR-3130-5p	CLIP-seq
MIRT2542468	hsa-miR-3179	CLIP-seq
MIRT2542469	hsa-miR-3187-3p	CLIP-seq
MIRT2542470	hsa-miR-3202	CLIP-seq
MIRT2542471	hsa-miR-3672	CLIP-seq
MIRT2542472	hsa-miR-3690	CLIP-seq
MIRT2542473	hsa-miR-378	CLIP-seq
MIRT2542474	hsa-miR-378b	CLIP-seq
MIRT2542475	hsa-miR-378c	CLIP-seq
MIRT2542476	hsa-miR-378d	CLIP-seq
MIRT2542477	hsa-miR-378e	CLIP-seq
MIRT2542478	hsa-miR-378f	CLIP-seq
MIRT2542479	hsa-miR-378h	CLIP-seq
MIRT2542480	hsa-miR-378i	CLIP-seq
MIRT2542481	hsa-miR-3911	CLIP-seq
MIRT2542482	hsa-miR-3974	CLIP-seq
MIRT2542483	hsa-miR-422a	CLIP-seq
MIRT2542484	hsa-miR-4254	CLIP-seq
MIRT2542485	hsa-miR-4266	CLIP-seq
MIRT2542486	hsa-miR-4290	CLIP-seq
MIRT1031780	hsa-miR-4437	CLIP-seq
MIRT2542487	hsa-miR-4476	CLIP-seq
MIRT2542488	hsa-miR-4477b	CLIP-seq
MIRT2542489	hsa-miR-4482	CLIP-seq
MIRT2542490	hsa-miR-4515	CLIP-seq
MIRT2542491	hsa-miR-4529-5p	CLIP-seq
MIRT2542492	hsa-miR-4632	CLIP-seq
MIRT2542493	hsa-miR-4650-5p	CLIP-seq
MIRT2542494	hsa-miR-4668-3p	CLIP-seq
MIRT2542495	hsa-miR-4674	CLIP-seq
MIRT2542496	hsa-miR-4676-5p	CLIP-seq
MIRT2542497	hsa-miR-4682	CLIP-seq
MIRT2542498	hsa-miR-4687-3p	CLIP-seq
MIRT2542499	hsa-miR-4691-5p	CLIP-seq
MIRT2006023	hsa-miR-4695-5p	CLIP-seq
MIRT2542500	hsa-miR-4727-5p	CLIP-seq
MIRT2542501	hsa-miR-4740-5p	CLIP-seq
MIRT2542502	hsa-miR-4742-3p	CLIP-seq
MIRT2542503	hsa-miR-4747-5p	CLIP-seq
MIRT2542504	hsa-miR-4778-3p	CLIP-seq
MIRT2542505	hsa-miR-4779	CLIP-seq
MIRT2542506	hsa-miR-4786-3p	CLIP-seq
MIRT2542507	hsa-miR-505	CLIP-seq
MIRT2542508	hsa-miR-544	CLIP-seq
MIRT2542509	hsa-miR-571	CLIP-seq
MIRT2542510	hsa-miR-575	CLIP-seq
MIRT2542511	hsa-miR-622	CLIP-seq
MIRT2542512	hsa-miR-644	CLIP-seq
MIRT2542513	hsa-miR-647	CLIP-seq
MIRT2542514	hsa-miR-663b	CLIP-seq
MIRT2542515	hsa-miR-671-5p	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IDA	29677517, 32865988, 33478938, 39753132
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	TAS	8661159
GO:0005886	Component	Plasma membrane	IDA	39753132
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8661159
GO:0006954	Process	Inflammatory response	TAS	7498459
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	8661159
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	39753132
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	20966218, 37991948
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	29677517, 39753132
GO:0016020	Component	Membrane	IEA
GO:0030073	Process	Insulin secretion	IEA
GO:0030224	Process	Monocyte differentiation	IEA
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0034405	Process	Response to fluid shear stress	IDA	29677517
GO:0034405	Process	Response to fluid shear stress	IEA
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0036035	Process	Osteoclast development	IEA
GO:0045656	Process	Negative regulation of monocyte differentiation	IEA
GO:0071467	Process	Cellular response to pH	IBA
GO:0071467	Process	Cellular response to pH	IEA
GO:0071468	Process	Cellular response to acidic pH	IDA	33478938, 39753132
GO:2001206	Process	Positive regulation of osteoclast development	IEA

MIM	HGNC	e!Ensembl
601404	4519	ENSG00000119714

Q15743

Protein name

G-protein coupled receptor 68 (G-protein coupled receptor 12A) (GPR12A) (Ovarian cancer G-protein coupled receptor 1) (OGR-1)

Protein function

Proton-sensing G-protein coupled receptor activated by extracellular pH, which is required to monitor pH changes and generate adaptive reactions (PubMed:12955148, PubMed:29677517, PubMed:32865988, PubMed:33478938, PubMed:39753132). The receptor

PDB

9BHM , 9BI6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00001	7tm_1	38 → 286	7 transmembrane receptor (rhodopsin family)	Family

Tissue specificity

TISSUE SPECIFICITY: Found at low level in a wide range of tissues, but significantly expressed in lung, kidney, bone and nervous system. {ECO:0000269|PubMed:12955148}.

Sequence

MGNITADNSSMSCTIDHTIHQTLAPVVYVTVLVVGFPANCLSLYFGYLQIKARNELGVYL
CNLTVADLFYICSLPFWLQYVLQHDNWSHGDLSCQVCGILLYENIYISVGFLCCISVDRY
LAVAHPFRFHQFRTLKAAVGVSVVIWAKELLTSIYFLMHEEVIEDENQHRVCFEHYPIQA
WQRAINYYRFLVGFLFPICLLLASYQGILRAVRRSHGTQKSRKDQIQRLVLSTVVIFLAC
FLPYHVLLLVRSVWEASCDFAKGVFNAYHFSLLLTSFNCVADPVLYCFVSETTHRDLARL
RGACLAFLTCSRTGRAREAYPLGAPEASGKSGAQGEEPELLTKLHPAFQTPNSPGSGGFP
TGRLA

Sequence length

365

Interactions

View interactions

	Reactome
			Class A/1 (Rhodopsin-like receptors) G alpha (q) signalling events

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amelogenesis imperfecta	Pathogenic	rs2140845247, rs1555409827, rs1057517671, rs1057517672	RCV002250378 RCV000495953 RCV000495945 RCV000495950	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis imperfecta, hypomaturation type, IIa6	Pathogenic	rs1555409827, rs1057517671, rs1057517672	RCV000412570 RCV000412608 RCV000412503	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA TYPE 2	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GPR68-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOMATURATION AMELOGENESIS IMPERFECTA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUMINAL B BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIPLE-NEGATIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (57)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	31652823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	31652823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	28627017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	27693231		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta	Amelogenesis imperfecta	Pubtator	32279993	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amelogenesis Imperfecta hypomaturation type	Amelogenesis Imperfecta	ORPHANET_DG	27693231		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6	Amelogenesis Imperfecta	GENOMICS_ENGLAND_DG	27693231		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6	Amelogenesis Imperfecta	UNIPROT_DG	27693231		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6	Amelogenesis Imperfecta	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6	Amelogenesis Imperfecta	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29092903, 29872392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	22145625	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30944627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35545051	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31236404	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	29092903	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar medulloblastoma	Cerebellar medulloblastoma	BEFREE	28627017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	28627017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	31996710, 39768215	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	29245949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29245949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	30165600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	36503812	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	31652823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	30165600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypomaturation amelogenesis imperfecta	Hypomaturation Amelogenesis Imperfecta	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	36010617	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30165600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	31996710	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27294874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	39768215	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases Obstructive	Lung disease	Pubtator	22145625	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	BEFREE	30724097		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35123428	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30944627		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	31652823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	29092903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30696114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17728215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29092903, 29872392, 30696114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	28627017		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	38627262	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	30696114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17728215, 29092903, 29245949, 30696114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	31652823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	12955148		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	16087674, 22145625, 32279993	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30696114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	29092903	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	31652823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	37344884	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	31652823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17728215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	17728215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17728215		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	36010617	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	31652823		★★★★★ ★☆☆☆☆ Found in Text Mining only

GPR68 (G protein-coupled receptor 68)