FOLR2

folate receptor beta

Basic information

Region (hg38): 11:72216601-72221950

Links

ENSG00000165457NCBI:2350OMIM:136425HGNC:3793Uniprot:P14207AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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.

EffectPLPVUSLBBSum
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

GeneTypeBio TypeTranscript Coding Exons Length
FOLR2protein_codingprotein_codingENST00000298223 45350
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.000005480.4491256331261256600.000107
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.1231451490.9720.000008171700
Missense in Polyphen4643.1611.0658536
Synonymous0.1945253.80.9660.00000287452
Loss of Function0.556911.00.8194.69e-7121

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001520.000152
Ashkenazi Jewish0.0005960.000496
East Asian0.00005450.0000544
Finnish0.00009250.0000924
European (Non-Finnish)0.00007110.0000704
Middle Eastern0.00005450.0000544
South Asian0.0001960.000196
Other0.0003270.000326

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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