FAHD2A (fumarylacetoacetate hydrolase domain containing 2A)

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Gene miRNA Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 51011
• Gene name: Fumarylacetoacetate hydrolase domain containing 2A
• Gene symbol: FAHD2A
• Synonyms (NCBI Gene): CGI-105
• Chromosome: 2
• Chromosome location: 2q11.1

miRNA Show/Hide all (88)

miRTarBase ID	miRNA	Experiments	Reference
MIRT028898	hsa-miR-26b-5p	Microarray	19088304
MIRT045118	hsa-miR-186-5p	CLASH	23622248
MIRT616901	hsa-miR-4469	HITS-CLIP	23824327
MIRT616900	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT616899	hsa-miR-3909	HITS-CLIP	23824327
MIRT616898	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT616897	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT616896	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT616895	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT616894	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT616901	hsa-miR-4469	HITS-CLIP	23824327
MIRT616900	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT616899	hsa-miR-3909	HITS-CLIP	23824327
MIRT616898	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT616897	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT616896	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT616895	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT616894	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT616901	hsa-miR-4469	HITS-CLIP	23824327
MIRT616900	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT616899	hsa-miR-3909	HITS-CLIP	23824327
MIRT616898	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT616897	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT616896	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT616895	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT616894	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT616901	hsa-miR-4469	HITS-CLIP	23824327
MIRT616900	hsa-miR-6759-3p	HITS-CLIP	23824327
MIRT616899	hsa-miR-3909	HITS-CLIP	23824327
MIRT616898	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT616897	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT616896	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT616895	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT616894	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT975341	hsa-miR-3929	CLIP-seq
MIRT975342	hsa-miR-4300	CLIP-seq
MIRT975343	hsa-miR-4419b	CLIP-seq
MIRT975344	hsa-miR-4468	CLIP-seq
MIRT975345	hsa-miR-4478	CLIP-seq
MIRT975346	hsa-miR-4481	CLIP-seq
MIRT975347	hsa-miR-4745-5p	CLIP-seq
MIRT975348	hsa-miR-4758-5p	CLIP-seq
MIRT975349	hsa-miR-645	CLIP-seq
MIRT975350	hsa-miR-920	CLIP-seq
MIRT2527364	hsa-miR-2861	CLIP-seq
MIRT2527365	hsa-miR-378g	CLIP-seq
MIRT975341	hsa-miR-3929	CLIP-seq
MIRT2527366	hsa-miR-4290	CLIP-seq
MIRT2527367	hsa-miR-4292	CLIP-seq
MIRT975342	hsa-miR-4300	CLIP-seq
MIRT2527368	hsa-miR-4308	CLIP-seq
MIRT975343	hsa-miR-4419b	CLIP-seq
MIRT2527369	hsa-miR-4446-5p	CLIP-seq
MIRT975344	hsa-miR-4468	CLIP-seq
MIRT975345	hsa-miR-4478	CLIP-seq
MIRT975346	hsa-miR-4481	CLIP-seq
MIRT2527370	hsa-miR-455-5p	CLIP-seq
MIRT975347	hsa-miR-4745-5p	CLIP-seq
MIRT2527371	hsa-miR-4755-5p	CLIP-seq
MIRT975348	hsa-miR-4758-5p	CLIP-seq
MIRT2527372	hsa-miR-4793-5p	CLIP-seq
MIRT975349	hsa-miR-645	CLIP-seq
MIRT2527373	hsa-miR-668	CLIP-seq
MIRT2527374	hsa-miR-670	CLIP-seq
MIRT975350	hsa-miR-920	CLIP-seq
MIRT2680447	hsa-miR-1909	CLIP-seq
MIRT2527364	hsa-miR-2861	CLIP-seq
MIRT2527365	hsa-miR-378g	CLIP-seq
MIRT975341	hsa-miR-3929	CLIP-seq
MIRT2680448	hsa-miR-3944-5p	CLIP-seq
MIRT2527366	hsa-miR-4290	CLIP-seq
MIRT2527367	hsa-miR-4292	CLIP-seq
MIRT975342	hsa-miR-4300	CLIP-seq
MIRT2527368	hsa-miR-4308	CLIP-seq
MIRT975343	hsa-miR-4419b	CLIP-seq
MIRT2527369	hsa-miR-4446-5p	CLIP-seq
MIRT975344	hsa-miR-4468	CLIP-seq
MIRT975345	hsa-miR-4478	CLIP-seq
MIRT975346	hsa-miR-4481	CLIP-seq
MIRT2527370	hsa-miR-455-5p	CLIP-seq
MIRT975347	hsa-miR-4745-5p	CLIP-seq
MIRT2527371	hsa-miR-4755-5p	CLIP-seq
MIRT975348	hsa-miR-4758-5p	CLIP-seq
MIRT2527372	hsa-miR-4793-5p	CLIP-seq
MIRT975349	hsa-miR-645	CLIP-seq
MIRT2527373	hsa-miR-668	CLIP-seq
MIRT2527374	hsa-miR-670	CLIP-seq
MIRT975350	hsa-miR-920	CLIP-seq

Gene ontology (GO) Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 32814053, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0006107	Process	Oxaloacetate metabolic process	IDA	38287013
GO:0006107	Process	Oxaloacetate metabolic process	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050163	Function	Oxaloacetate tautomerase activity	IDA	38287013
GO:0050163	Function	Oxaloacetate tautomerase activity	IEA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q96GK7
• Protein name: Oxaloacetate tautomerase FAHD2A, mitochondrial (EC 5.3.2.2) (Fumarylacetoacetate hydrolase domain-containing protein 2A)
• 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:

  MLVSGRRRLLTVLLQAQKWPFQPSRDMRLVQFRAPHLVGPHLGLETGNGGGVINLNAFDP
  TLPKTMTQFLEQGEATLSVARRALAAQLPVLPRSEVTFLAPVTRPDKVVCVGMNYVDHCK
  EQNVPVPKEPIIFSKFASSIVGPYDEVVLPPQSQEVDWEVELAVVIGKKGKHIKATDAMA
  HVAGFTVAHDVSARDWQMRRNGKQWLLGKTFDTFCPLGPALVTKDSVADPHNLKICCRVN
  GEVVQSGNTNQMVFKTEDLIAWVSQFVTFYPGDVILTGTPPGVGVFRKPPVFLKKGDEVQ
  CEIEELGVIINKVV

• Sequence length: 314

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

No strongly related genes found yet for FAHD2A.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to FAHD2A.