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GPR75 |
Gene Facts External Data Attribution
- HGNC Symbol
- GPR75 (HGNC:4526) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- G protein-coupled receptor 75
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- WI-31133
- %HI
- 58.07(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.4(Read more about gnomAD LOEUF score)
- Cytoband
- 2p16.2
- Genomic Coordinates
-
GRCh37/hg19: chr2:54080049-54087104 NCBI Ensembl UCSC GRCh38/hg38: chr2:53852912-53859967 NCBI Ensembl UCSC - MANE Select Transcript
- NM_006794.4 ENST00000394705.3 (Read more about MANE Select)
- Function
- G protein-coupled receptor that is activated by the chemokine CCL5/RANTES. Probably coupled to heterotrimeric Gq proteins, it stimulates inositol trisphosphate production and calcium mobilization upon activation. Together with CCL5/RANTES, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. CCL5/RANTES may also regulate insulin secretion by pancreatic islet cells through activation of this receptor. {ECO:0000250|UniProtK... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-4748
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)
