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Gene Gene information from NCBI Gene database.
Entrez ID 151313
Gene name Fumarylacetoacetate hydrolase domain containing 2B
Gene symbol FAHD2B
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2q11.2
miRNA miRNA information provided by mirtarbase database.
50 Show/Hide all (50)
miRTarBase ID miRNA Experiments Reference
MIRT029684 hsa-miR-26b-5p Microarray 19088304
MIRT975351 hsa-miR-3929 CLIP-seq
MIRT975352 hsa-miR-4300 CLIP-seq
MIRT975353 hsa-miR-4419b CLIP-seq
MIRT975354 hsa-miR-4468 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10 Show/Hide all (10)
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0006107 Process Oxaloacetate metabolic process IDA 38287013
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6P2I3
Protein name Oxaloacetate tautomerase FAHD2B, mitochondrial (EC 5.3.2.2) (Fumarylacetoacetate hydrolase domain-containing protein 2B)
Protein function Tautomerase that converts enol-oxaloacetate, a strong inhibitor of succinate dehydrogenase, to the physiological keto form of oxaloacetate (PubMed:38287013). It is thereby required to maximize aerobic respiration efficiency by preventing succina
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01557 FAA_hydrolase 107 → 314 Fumarylacetoacetate (FAA) hydrolase family Family
Sequence
Sequence length 314
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Cervical cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations