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. [provided by RefSeq, Feb 2017] See more...

Aliases for GPR68 Gene

Aliases for GPR68 Gene

  • G Protein-Coupled Receptor 68 2 3 5
  • OGR1 2 3 4
  • Ovarian Cancer G-Protein Coupled Receptor 1 3 4
  • Sphingosylphosphorylcholine Receptor 3 4
  • GPR12A 3 4
  • Ovarian Cancer G Protein-Coupled Receptor, 1 3
  • G-Protein Coupled Receptor 68 4
  • AI2A6 3
  • GPR68 5
  • OGR-1 4

External Ids for GPR68 Gene

Previous GeneCards Identifiers for GPR68 Gene

  • GC14M089206
  • GC14M085516
  • GC14M089690
  • GC14M090769
  • GC14M091699
  • GC14M071875

Summaries for GPR68 Gene

Entrez Gene Summary for GPR68 Gene

  • 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. [provided by RefSeq, Feb 2017]

GeneCards Summary for GPR68 Gene

GPR68 (G Protein-Coupled Receptor 68) is a Protein Coding gene. Diseases associated with GPR68 include Amelogenesis Imperfecta, Hypomaturation Type, Iia6 and Amelogenesis Imperfecta Hypomaturation Type. Among its related pathways are Peptide ligand-binding receptors and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity. An important paralog of this gene is LPAR5.

UniProtKB/Swiss-Prot Summary for GPR68 Gene

  • Proton-sensing receptor involved in pH homeostasis. May represents an osteoblastic pH sensor regulating cell-mediated responses to acidosis in bone. Mediates its action by association with G proteins that stimulates inositol phosphate (IP) production or Ca(2+) mobilization. The receptor is almost silent at pH 7.8 but fully activated at pH 6.8. Also functions as a metastasis suppressor gene in prostate cancer (By similarity).

Gene Wiki entry for GPR68 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GPR68 Gene

Genomics for GPR68 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GPR68 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J091247 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 251.9 +13.4 13408 7.9 EZH2 BCLAF1 SP1 ZNF600 ZBTB10 BCL11A CTCF REST TRIM22 ZBTB7B GPR68 HSALNG0103183 CCDC88C TRIP11 PPP4R3A RPS6KA5 lnc-CCDC88C-1 ENSG00000258875
GH14J091240 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.4 +20.6 20590 6 BCLAF1 SP1 POLR2A ZIC2 BCL11A SIN3A TARDBP TRIM22 GABPA IRF4 GPR68 ENSG00000258875 HSALNG0103183 lnc-CCDC88C-1 RPS6KA5
GH14J091263 Promoter/Enhancer 1.3 EPDnew Ensembl dbSUPER 250.7 0.0 -20 1.6 ZNF592 SIN3A ELF1 SIN3B SMARCE1 IKZF1 BACH1 TOE1 KLF1 L3MBTL2 ENSG00000286607 GPR68 CCDC88C
GH14J091264 Enhancer 0.7 FANTOM5 dbSUPER 272.9 +1.1 1061 0.1 PTBP1 ZNF143 ZFP36 ZMYM3 KDM1A BCOR SMARCA5 HDAC2 GPR68 ENSG00000286607 ENSG00000260810 RPS6KA5
GH14J091201 Enhancer 1.2 FANTOM5 Ensembl ENCODE 12.4 +62.1 62142 1.5 MYC NCOR1 IKZF1 ZNF592 HES1 MBD2 ARNT IRF2 NFATC3 TAF9B piR-60246-054 GPR68 DGLUCY PPP4R3A HSALNG0103175 HSALNG0103174 RPS6KA5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GPR68 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GPR68

Top Transcription factor binding sites by QIAGEN in the GPR68 gene promoter:
  • AML1a
  • ATF
  • CREB
  • deltaCREB
  • Egr-4
  • FOXD3
  • HNF-4alpha1
  • HNF-4alpha2
  • Spz1

Genomic Locations for GPR68 Gene

Latest Assembly
chr14:91,232,532-91,264,581
(GRCh38/hg38)
Size:
32,050 bases
Orientation:
Minus strand

Previous Assembly
chr14:91,698,876-91,720,224
(GRCh37/hg19 by Entrez Gene)
Size:
21,349 bases
Orientation:
Minus strand

chr14:91,698,876-91,720,269
(GRCh37/hg19 by Ensembl)
Size:
21,394 bases
Orientation:
Minus strand

Genomic View for GPR68 Gene

Genes around GPR68 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPR68 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPR68 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPR68 Gene

Proteins for GPR68 Gene

  • Protein details for GPR68 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15743-OGR1_HUMAN
    Recommended name:
    Ovarian cancer G-protein coupled receptor 1
    Protein Accession:
    Q15743
    Secondary Accessions:
    • Q13334
    • Q4VBB4
    • Q6IX34

    Protein attributes for GPR68 Gene

    Size:
    365 amino acids
    Molecular mass:
    41077 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH96071.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH96072.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH96073.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH96074.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH98567.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAT38917.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=ACG60649.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW81447.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for GPR68 Gene

Post-translational modifications for GPR68 Gene

  • Glycosylation at Asn3 and Asn8
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GPR68 Gene

Domains & Families for GPR68 Gene

Gene Families for GPR68 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • G-protein coupled receptors
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for GPR68 Gene

InterPro:
Blocks:
  • OGR1 sphingosylphosphorylcholine receptor signature

Suggested Antigen Peptide Sequences for GPR68 Gene

GenScript: Design optimal peptide antigens:
  • GPR68 protein (A1A5B2_HUMAN)
  • Sphingosylphosphorylcholine receptor (OGR1_HUMAN)
  • GPR68 protein (Q6NWR5_HUMAN)
  • GPR68 protein (Q6NWR6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15743

UniProtKB/Swiss-Prot:

OGR1_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with GPR68: view

Function for GPR68 Gene

Molecular function for GPR68 Gene

UniProtKB/Swiss-Prot Function:
Proton-sensing receptor involved in pH homeostasis. May represents an osteoblastic pH sensor regulating cell-mediated responses to acidosis in bone. Mediates its action by association with G proteins that stimulates inositol phosphate (IP) production or Ca(2+) mobilization. The receptor is almost silent at pH 7.8 but fully activated at pH 6.8. Also functions as a metastasis suppressor gene in prostate cancer (By similarity).
GENATLAS Biochemistry:
G protein coupled receptor 68,with strong homology to GPR4,expressed in spleen,testis,small intestine,peripheral blood leucocytes,brain,heart,lung,placenta,kidney

Phenotypes From GWAS Catalog for GPR68 Gene

Gene Ontology (GO) - Molecular Function for GPR68 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity TAS,IEA --
genes like me logo Genes that share ontologies with GPR68: view
genes like me logo Genes that share phenotypes with GPR68: view

Human Phenotype Ontology for GPR68 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GPR68 Gene

MGI Knock Outs for GPR68:

Animal Models for research

  • Taconic Biosciences Mouse Models for GPR68

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPR68

Clone products for research

  • Addgene plasmids for GPR68

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GPR68 Gene

Localization for GPR68 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPR68 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GPR68 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GPR68 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8661159
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GPR68: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GPR68 Gene

Pathways & Interactions for GPR68 Gene

genes like me logo Genes that share pathways with GPR68: view

Gene Ontology (GO) - Biological Process for GPR68 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006954 inflammatory response TAS 7498459
GO:0007165 signal transduction IEA --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0032024 positive regulation of insulin secretion IEA --
GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus IEA --
genes like me logo Genes that share ontologies with GPR68: view

No data available for SIGNOR curated interactions for GPR68 Gene

Drugs & Compounds for GPR68 Gene

(3) Drugs for GPR68 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with GPR68: view

Transcripts for GPR68 Gene

mRNA/cDNA for GPR68 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GPR68

Clone products for research

  • Addgene plasmids for GPR68

Alternative Splicing Database (ASD) splice patterns (SP) for GPR68 Gene

No ASD Table

Relevant External Links for GPR68 Gene

GeneLoc Exon Structure for
GPR68

Expression for GPR68 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GPR68 Gene

mRNA differential expression in normal tissues according to GTEx for GPR68 Gene

This gene is overexpressed in Pituitary (x5.4).

Protein differential expression in normal tissues from HIPED for GPR68 Gene

This gene is overexpressed in CD8 Tcells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GPR68 Gene



Protein tissue co-expression partners for GPR68 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GPR68

SOURCE GeneReport for Unigene cluster for GPR68 Gene:

Hs.8882

mRNA Expression by UniProt/SwissProt for GPR68 Gene:

Q15743-OGR1_HUMAN
Tissue specificity: Found at low level in a wide range of tissues, but significantly expressed in lung, kidney, bone and nervous system.

Evidence on tissue expression from TISSUES for GPR68 Gene

  • Nervous system(4.4)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with GPR68: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GPR68 Gene

Orthologs for GPR68 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GPR68 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GPR68 29 30
  • 99.45 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GPR68 29 30
  • 91.16 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GPR68 29 30
  • 91.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gpr68 29
  • 88.22 (n)
Mouse
(Mus musculus)
Mammalia Gpr68 29 16 30
  • 87.58 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GPR68 30
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GPR68 29 30
  • 62.96 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GPR68 30
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101733637 29
  • 61.38 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC799203 29
  • 60.08 (n)
GPR68 30
  • 52 (a)
OneToOne
Species where no ortholog for GPR68 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GPR68 Gene

ENSEMBL:
Gene Tree for GPR68 (if available)
TreeFam:
Gene Tree for GPR68 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GPR68: view image
Alliance of Genome Resources:
Additional Orthologs for GPR68

Paralogs for GPR68 Gene

Paralogs for GPR68 Gene

(19) SIMAP similar genes for GPR68 Gene using alignment to 6 proteins:

  • OGR1_HUMAN
  • A1A5B2_HUMAN
  • E9PNU7_HUMAN
  • L0R5B2_HUMAN
  • Q6NWR5_HUMAN
  • Q6NWR6_HUMAN
genes like me logo Genes that share paralogs with GPR68: view

Variants for GPR68 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GPR68 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
1034004 Pathogenic: Amelogenesis imperfecta, hypomaturation type IIA6 91,234,641(-) GC/G
NM_001177676.2(GPR68):c.409del (p.Ala137fs)
FRAMESHIFT
997521 Pathogenic: Amelogenesis imperfecta, hypomaturation type IIA6 91,234,816(-) G/A
NM_001177676.2(GPR68):c.235C>T (p.Gln79Ter)
NONSENSE
rs105751767 Amelogenesis imperfecta, hypomaturation type, 2A6 (AI2A6) [MIM:617217] p.Leu74Pro
rs1057517671 Pathogenic: Amelogenesis imperfecta; Amelogenesis imperfecta, hypomaturation type IIA6 91,234,382(-) CTT/C
NM_001177676.2(GPR68):c.667_668del (p.Lys223fs)
FRAMESHIFT
rs1057517672 Pathogenic: Amelogenesis imperfecta; Amelogenesis imperfecta, hypomaturation type IIA6 91,234,830(-) A/G
NM_001177676.2(GPR68):c.221T>C (p.Leu74Pro)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GPR68 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GPR68 Gene

Variant ID Type Subtype PubMed ID
dgv141n21 CNV gain 19592680
nsv1046924 CNV gain 25217958
nsv819108 CNV loss 19587683
nsv832857 CNV loss 17160897
nsv952882 CNV deletion 24416366

Variation tolerance for GPR68 Gene

Residual Variation Intolerance Score: 17.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.50; 29.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GPR68 Gene

Human Gene Mutation Database (HGMD)
GPR68
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPR68
Leiden Open Variation Database (LOVD)
GPR68

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPR68 Gene

Disorders for GPR68 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GPR68 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search GPR68 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

OGR1_HUMAN
  • Amelogenesis imperfecta, hypomaturation type, 2A6 (AI2A6) [MIM:617217]: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. {ECO:0000269 PubMed:27693231}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for GPR68

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GPR68: view

No data available for Genatlas for GPR68 Gene

Publications for GPR68 Gene

  1. Identification of human OGR1, a novel G protein-coupled receptor that maps to chromosome 14. (PMID: 8661159) Xu Y … Casey G (Genomics 1996) 2 3 4 22
  2. Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta. (PMID: 27693231) Parry DA … Mighell AJ (American journal of human genetics 2016) 3 4 72
  3. Proton-sensing G-protein-coupled receptors. (PMID: 12955148) Ludwig MG … Seuwen K (Nature 2003) 3 4 22
  4. Ovarian cancer G protein-coupled receptor 1, a new metastasis suppressor gene in prostate cancer. (PMID: 17728215) Singh LS … Xu Y (Journal of the National Cancer Institute 2007) 3 22
  5. Retraction. Sphingosylphosphorylcholine is a ligand for ovarian cancer G-protein-coupled receptor 1. (PMID: 16508674) (Nature cell biology 2006) 4 22

Products for GPR68 Gene

Sources for GPR68 Gene