FOLR2

folate receptor beta

Basic information

Region (hg38): 11:72216601-72221950

Links

ENSG00000165457

∙ NCBI:2350 ∙ OMIM:136425 ∙ HGNC:3793 ∙ Uniprot:P14207 ∙ 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 FOLR2 gene.

not_specified (31 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FOLR2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000803.5. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			28 clinvar	2 clinvar	2 clinvar	32
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	28	3	2

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FOLR2	protein_coding	protein_coding	ENST00000298223	4	5350

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000548	0.449	125633	1	26	125660	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.123	145	149	0.972	0.00000817	1700
Missense in Polyphen		46	43.161	1.0658		536
Synonymous	0.194	52	53.8	0.966	0.00000287	452
Loss of Function	0.556	9	11.0	0.819	4.69e-7	121

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.000596	0.000496
East Asian	0.0000545	0.0000544
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.0000711	0.0000704
Middle Eastern	0.0000545	0.0000544
South Asian	0.000196	0.000196
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Binds to folate and reduced folic acid derivatives and mediates delivery of 5-methyltetrahydrofolate and folate analogs into the interior of cells. Has high affinity for folate and folic acid analogs at neutral pH. Exposure to slightly acidic pH after receptor endocytosis triggers a conformation change that strongly reduces its affinity for folates and mediates their release. {ECO:0000269|PubMed:23934049, ECO:0000269|PubMed:2605182, ECO:0000269|PubMed:4066659}.;
Pathway: Endocytosis - Homo sapiens (human);Folate Metabolism;Post-translational modification: synthesis of GPI-anchored proteins;Post-translational protein modification;Metabolism of proteins;Metabolism;Metabolism of folate and pterines;Metabolism of water-soluble vitamins and cofactors;Metabolism of vitamins and cofactors (Consensus)

Recessive Scores

pRec: 0.147

Intolerance Scores

loftool: 0.568
rvis_EVS: 0.06
rvis_percentile_EVS: 58.53

Haploinsufficiency Scores

pHI: 0.0579
hipred: N
hipred_score: 0.146
ghis: 0.519

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.209

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Folr2
Phenotype: normal phenotype;

Gene ontology

Biological process: monocyte chemotaxis;receptor-mediated endocytosis;inflammatory response;cell adhesion;fusion of sperm to egg plasma membrane involved in single fertilization;positive regulation of cell population proliferation;folic acid transport;sperm-egg recognition;folic acid metabolic process;regulation of thymidylate synthase biosynthetic process;cellular response to folic acid;folate import across plasma membrane
Cellular component: extracellular region;plasma membrane;cell surface;anchored component of external side of plasma membrane
Molecular function: folic acid binding;drug binding;signaling receptor activity;methotrexate binding;folic acid receptor activity