FOLH1B

folate hydrolase 1B (pseudogene), the group of M28 metallopeptidases

Basic information

Region (hg38): 11:89659297-89698722

Previous symbols: [ "FOLH2", "FOLHP" ]

Links

ENSG00000290503

∙ NCBI:219595 ∙ OMIM:609020 ∙ HGNC:13636 ∙ Uniprot:Q9HBA9 ∙ 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 FOLH1B gene.

Inborn genetic diseases (2 variants)
not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FOLH1B gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2 clinvar	1 clinvar		3
Total	0	0	2	1	0

Variants in FOLH1B

This is a list of pathogenic ClinVar variants found in the FOLH1B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Phenotype	Significance	ClinVar
11-89676123-C-G	not specified	Uncertain significance (Aug 09, 2021)	3096205
11-89680626-G-A		Likely benign (Mar 01, 2023)	2642260
11-89688591-A-C	not specified	Uncertain significance (Sep 27, 2021)	2252418
11-89698445-A-G	not specified	Uncertain significance (Aug 16, 2021)	2245615

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Has both folate hydrolase and N-acetylated-alpha-linked- acidic dipeptidase (NAALADase) activity. {ECO:0000250}.;
Pathway: Metabolism of amino acids and derivatives;Metabolism;Amino acid synthesis and interconversion (transamination) (Consensus)

Gene ontology

Biological process: proteolysis;cellular amino acid biosynthetic process;C-terminal protein deglutamylation
Cellular component: cytoplasm;plasma membrane;extracellular exosome
Molecular function: metallocarboxypeptidase activity;dipeptidase activity;metal ion binding