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FSHR |
Gene Facts External Data Attribution
- HGNC Symbol
- FSHR (HGNC:3969) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- follicle stimulating hormone receptor
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ODG1
- Alias symbols
- FSHRO, LGR1
- %HI
- 4.43(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.07(Read more about gnomAD LOEUF score)
- Cytoband
- 2p16.3
- Genomic Coordinates
-
GRCh37/hg19: chr2:49189296-49381654 NCBI Ensembl UCSC GRCh38/hg38: chr2:48962157-49154515 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000145.4 ENST00000406846.7 (Read more about MANE Select)
- Function
- G protein-coupled receptor for follitropin, the follicle- stimulating hormone (PubMed:11847099, PubMed:24058690, PubMed:24692546). Through cAMP production activates the downstream PI3K-AKT and ERK1/ERK2 signaling pathways (PubMed:24058690). {ECO:0000269|PubMed:11847099, ECO:0000269|PubMed:24058690, ECO:0000269|PubMed:24692546}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-24523
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)
