FOLR3

folate receptor gamma

Basic information

Region (hg38): 11:72114869-72139892

Links

ENSG00000110203 ∙ NCBI:2352 ∙ OMIM:602469 ∙ HGNC:3795 ∙ Uniprot:P41439 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FOLR3 gene.

• FOLR3-related_disorder (16 variants)
• not_provided (6 variants)
• not_specified (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FOLR3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000804.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				7	6	13
missense			5	1	4	10
nonsense				1		1
start loss				1		1
frameshift				1	1	2
splice donor/acceptor (+/-2bp)						0
Total	0	0	5	11	11

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FOLR3	protein_coding	protein_coding	ENST00000456237	4	25022

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0154	0.889	124824	0	376	125200	0.00150

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.00495	176	176	1.00	0.0000102	1858
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00246	0.00245
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000936	0.0000926
European (Non-Finnish)	0.00241	0.00239
Middle Eastern	0.00	0.00
South Asian	0.000298	0.000294
Other	0.00233	0.00230

dbNSFP

Source: dbNSFP

• 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.
• Pathway: Endocytosis - Homo sapiens (human);Folate Metabolism;Neutrophil degranulation;Innate Immune System;Immune System;Vitamin B9 (folate) metabolism (Consensus)

Recessive Scores

• pRec: 0.104

Haploinsufficiency Scores

• pHI: 0.0987
• hipred: N
• hipred_score: 0.139
• ghis: 0.423

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.156

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

• Biological process: cell adhesion;fusion of sperm to egg plasma membrane involved in single fertilization;folic acid transport;sperm-egg recognition;neutrophil degranulation
• Cellular component: extracellular region;membrane;extrinsic component of membrane;anchored component of external side of plasma membrane;specific granule lumen;tertiary granule lumen
• Molecular function: folic acid binding;signaling receptor activity