• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
FOLR1 (HGNC:3791) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
folate receptor alpha
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
FOLR
Alias symbols
FRα
%HI
71.28(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.13(Read more about gnomAD pLI score)
LOEUF
0.65(Read more about gnomAD LOEUF score)
Cytoband
11q13.4
Genomic Coordinates
GRCh37/hg19: chr11:71900753-71907367 NCBI Ensembl UCSC
GRCh38/hg38: chr11:72189709-72196323 NCBI Ensembl UCSC
MANE Select Transcript
NM_016729.3 ENST00000393676.5 (Read more about MANE Select)
Function
Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells (PubMed:23851396, PubMed:23934049, PubMed:2527252, PubMed:8033114, PubMed:8567728, PubMed:19074442). Has high affinity for folate and folic acid analogs at neutral pH (PubMed:23851396, PubMed:23934049, PubMed:2527252, PubMed:8033114, PubMed:8567728). Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-31203
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
06/25/2019

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • neurodegenerative syndrome due to cerebral folate transport deficiency Monarch
HI Evidence Comments:
Biallelic variation in FOLR1 has been definitively associated wtih cerebral folate transport deficiency (an autosomal recessive condition) by the ClinGen Intellectual Disability and Autism Gene Curation Expert Panel as of April 2018 (https://search.clinicalgenome.org/kb/gene-validity/22c12588-dc55-4e90-827a-d7a6349e38a9--2018-04-27T16:49:24). Several studies have investigated a possible role for variants in FOLR1 in neural tube defects given its role as a folate receptor gene. Findley et al. (2017) (PMID: 28948692) identified a single heterozygous 5'UTR variant in an individual with myelomeningocele. Of note, none of the carrier parents of individuals with cerebral folate transporter deficiency evaluated as part of the ClinGen gene-disease validity curation (see above) had neural tube defects. At this time, the role of heterozygous FOLR1 variants in risk for neural tube defects is unclear.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)