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fumarate hydratase

Summary

Gene Symbol

Aliases

fumarase

Organism

Homo sapiens (human)

External Links

NCBI Gene

2271

HGNC

3700

KEGG Gene ID

hsa:2271

PubChem

2271

Alliance of Genome Resources

HGNC:3700

Annotation

Keyword

3D-structure
Acetylation
Alternative initiation
Chromosome
Cytoplasm
DNA repair
Direct protein sequencing
Disease variant
Lyase
Mitochondrion
Nucleus
Phosphoprotein
Reference proteome
Transit peptide
Tricarboxylic acid cycle
Tumor suppressor

Proteins

Displaying **all 2** entries
UniProt	Protein Name
P07954
A0A0S2Z4C3

Annotation information from UniProt.

Gene Ontology (GO)

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GO Term	Evidence Code	PMID
malate metabolic process	IBA IDA	30761759
positive regulation of cold-induced thermogenesis	ISS	27554470
DNA repair	IEA
homeostasis of number of cells within a tissue	IEA
fumarate metabolic process	IBA IDA	30761759

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

cellular metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

dicarboxylic acid metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

primary metabolic process [inference]

tricarboxylic acid cycle

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

small molecule metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

dicarboxylic acid metabolic process [inference]

organic substance metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

dicarboxylic acid metabolic process [inference]

macromolecule metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

organic cyclic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

cellular process [inference]

cellular metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

dicarboxylic acid metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

DNA repair

multicellular organismal process [inference]

multicellular organismal-level homeostasis [inference]

homeostasis of number of cells [inference]

homeostasis of number of cells within a tissue

anatomical structure homeostasis [inference]

tissue homeostasis [inference]

homeostasis of number of cells within a tissue

homeostatic process [inference]

multicellular organismal-level homeostasis [inference]

homeostasis of number of cells [inference]

homeostasis of number of cells within a tissue

anatomical structure homeostasis [inference]

tissue homeostasis [inference]

homeostasis of number of cells within a tissue

response to stimulus [inference]

response to stress [inference]

cellular response to stress [inference]

DNA damage response [inference]

DNA repair

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

DNA repair

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

positive regulation of metabolic process [inference]

positive regulation of cold-induced thermogenesis

regulation of cold-induced thermogenesis [inference]

positive regulation of cold-induced thermogenesis

positive regulation of biological process [inference]

positive regulation of metabolic process [inference]

positive regulation of cold-induced thermogenesis

positive regulation of multicellular organismal process [inference]

positive regulation of cold-induced thermogenesis

regulation of multicellular organismal process [inference]

positive regulation of multicellular organismal process [inference]

positive regulation of cold-induced thermogenesis

regulation of cold-induced thermogenesis [inference]

positive regulation of cold-induced thermogenesis

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GO Term	Evidence Code	PMID
nucleus	IEA
cytosol	IEA
chromosome	IEA
cytoplasm		8200987
mitochondrial matrix

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

mitochondrial matrix

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

chromosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

chromosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying **all 2** entries
GO Term	Evidence Code	PMID
fumarate hydratase activity	IBA IDA IMP	29456767 30761759
protein binding	IPI	25416956 26237645 32296183

GO Hierarchy

molecular function

catalytic activity [inference]

lyase activity [inference]

carbon-oxygen lyase activity [inference]

hydro-lyase activity [inference]

fumarate hydratase activity

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000091483

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K01679

Name

fumarate hydratase, class II [EC:4.2.1.2]

References

Rhea

RHEA:12460

(S)-malate

H₂O + fumarate

Enzyme

4.2.1.2

PMID

Disease

Disease Ontology

Displaying entries **21 - 30** of **192** in total

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DO ID	Disease Name	Source
DOID:0080144	childhood acute lymphocytic leukemia	DisGeNET
DOID:0080334	aortic valve disease 2	DisGeNET
DOID:0110115	autoimmune lymphoproliferative syndrome type 2A	DisGeNET
DOID:0110116	autoimmune lymphoproliferative syndrome type 2B	DisGeNET
DOID:0110119	autoimmune lymphoproliferative syndrome type 3	DisGeNET
DOID:0110892	inflammatory bowel disease 1	DisGeNET
DOID:0111253	neurofibromatosis 1	DisGeNET
DOID:0111261	fumarase deficiency	DisGeNET DisGeNET Alliance of Genome Resources
DOID:0111414	trichohepatoenteric syndrome	DisGeNET
DOID:0111415	trichohepatoenteric syndrome 1	DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000093	Proteinuria
HP:0000096	Glomerular sclerosis
HP:0000131	Uterine leiomyoma
HP:0000218	High palate
HP:0000252	Microcephaly
HP:0000316	Hypertelorism
HP:0000405	Conductive hearing impairment
HP:0000463	Anteverted nares

Displaying **all 4** entries
Disease ID	Disease Name
ORPHA:523	hereditary leiomyomatosis and renal cell cancer
OMIM:150800	hereditary leiomyomatosis and renal cell cancer
ORPHA:29072	hereditary pheochromocytoma-paraganglioma
OMIM:606812	fumaric aciduria

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	176059	WB:WBGene00001503
Drosophila melanogaster	31605	FB:FBgn0286222
Drosophila melanogaster	31606	FB:FBgn0029890
Drosophila melanogaster	39281	FB:FBgn0036162
Drosophila melanogaster	318995	FB:FBgn0051874
Callorhinchus milii	103178924		CALMI16668
Danio rerio	393938	ZFIN:ZDB-GENE-010724-6	DANRE04475
Ictalurus punctatus	108274139		ICTPU04649
Salmo salar	106564811		SALSA00575
Salmo salar	106611092		SALSA00575

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements