FOLR3
protein-codingfolate receptor gamma
Gene summary
This gene encodes a member of the folate receptor (FOLR) family of proteins, which have a high affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells. Expression of this gene may be elevated in ovarian and primary peritoneal carcinoma. This gene is present in a gene cluster on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~25.0 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to FOLR3 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_000804.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 8 | 6 | 14 | |||
| missense | 7 | 1 | 4 | 12 | ||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | 2 | |||
| Total | 0 | 0 | 8 | 11 | 11 | 30 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_000795.2 | 4 | MANE Select | |
| Ensembl | ENSP00000481114.1 | 4 | MANE Select | |
| Ensembl | ENSP00000446279.1 | 2 | Standard | |
| Ensembl | ENSP00000481027.1 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Endocytosis - Homo sapiens (human)
- Folate Metabolism
- Neutrophil degranulation
- Innate Immune System
- Immune System
Biological Process
- cell adhesion
- fusion of sperm to egg plasma membrane involved in single fertilization
- folic acid transport
- sperm-egg recognition
- neutrophil degranulation
Molecular Function
- folic acid binding
- signaling receptor activity
Cellular Component
- extracellular region
- membrane
- extrinsic component of membrane
- anchored component of external side of plasma membrane
- specific granule lumen
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000456237
- Coding exons
- 4
- Length
- 25022
- Individuals with no LoFs
- 124824
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 376
- Defined
- 125200
- p
- 0.00150
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.00495 | 176 | 176 | 1.00 | 0.0000102 | 1858 |
| Missense (PolyPhen) | 55 | 40.711 | 1.351 | 480 | ||
| Synonymous | -0.674 | 73 | 66.0 | 1.11 | 0.00000401 | 572 |
| Loss of Function | 1.39 | 4 | 8.35 | 0.479 | 3.56e-7 | 98 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00019 | 0.00019 | rare |
| Latino/Admixed American | 0.0023 | 0.0023 | notable |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0.000094 | 0.000093 | rare |
| European (Non-Finnish) | 0.0024 | 0.0024 | notable |
| South Asian | 0.00030 | 0.00029 | rare |
| Other | 0.0023 | 0.0023 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate to the interior of cells. Isoform Short does not bind folate.;
Recessive Scores
- pRec
- 0.104
Essentials
- Essential (CRISPR2)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.156
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |