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Guidelines

MIRAGE

fumarate hydratase

Summary

Gene Symbol

FH

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

JoGo

FH

TogoVar

FH

Annotation

Keyword

3D-structure
Acetylation
Alternative initiation
Chromosome
Cytoplasm
DNA repair
Direct protein sequencing
Disease variant
Lyase
Mitochondrion
Nucleus
Phosphoprotein
Proteomics identification
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)

Displaying entries **11 - 15** of 20 in total

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GO Term	Evidence Code	PMID
malate metabolic process	IBA
DNA repair
arginine metabolic process	ISS
arginine metabolic process	IEA
cellular response to DNA damage stimulus	IDA

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

biosynthetic process [inference]

urea cycle

macromolecule 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

amino acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

arginine metabolic process

small molecule metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

dicarboxylic acid metabolic process [inference]

alpha-amino acid metabolic process [inference]

arginine metabolic process

urea metabolic process [inference]

urea cycle

nitrogen cycle metabolic process [inference]

urea metabolic process [inference]

urea cycle

cellular response to stimulus [inference]

cellular response to stress [inference]

cellular response to DNA damage stimulus

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]

cellular response to DNA damage stimulus

DNA repair

cellular response to stimulus [inference]

cellular response to stress [inference]

cellular response to DNA damage stimulus

DNA repair

biological regulation [inference]

regulation of biological process [inference]

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of metabolic process [inference]

positive regulation of macromolecule metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair [inference]

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

positive regulation of response to stimulus [inference]

positive regulation of DNA repair [inference]

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

positive regulation of multicellular organismal process [inference]

positive regulation of cold-induced thermogenesis

regulation of response to stimulus [inference]

positive regulation of response to stimulus [inference]

positive regulation of DNA repair [inference]

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of response to stress [inference]

regulation of cellular response to stress [inference]

regulation of DNA repair [inference]

positive regulation of DNA repair [inference]

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair [inference]

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair via nonhomologous end joining [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of cellular process [inference]

regulation of metabolic process [inference]

positive regulation of metabolic process [inference]

positive regulation of macromolecule metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair [inference]

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair [inference]

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of DNA metabolic process [inference]

regulation of DNA repair [inference]

positive regulation of DNA repair [inference]

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair [inference]

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair via nonhomologous end joining [inference]

positive regulation of double-strand break repair via nonhomologous end joining

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair [inference]

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of primary metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of DNA metabolic process [inference]

regulation of DNA repair [inference]

positive regulation of DNA repair [inference]

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair [inference]

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair via nonhomologous end joining [inference]

positive regulation of double-strand break repair via nonhomologous end joining

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair [inference]

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

positive regulation of cellular process [inference]

positive regulation of metabolic process [inference]

positive regulation of macromolecule metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of DNA repair [inference]

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of cellular response to stress [inference]

regulation of DNA repair [inference]

positive regulation of DNA repair [inference]

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair [inference]

positive regulation of double-strand break repair [inference]

positive regulation of double-strand break repair via nonhomologous end joining

regulation of double-strand break repair via nonhomologous end joining [inference]

positive regulation of double-strand break repair via nonhomologous end joining

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

Displaying entries **1 - 5** of 20 in total

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GO Term	Evidence Code	PMID
nucleus	EXP
nucleus	IDA
nucleus	IEA
chromosome	EXP
chromosome	IEA

GO Hierarchy

cellular component

cellular anatomical structure [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

membraneless organelle [inference]

intracellular membraneless organelle [inference]

chromosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular membraneless organelle [inference]

chromosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

site of DNA damage [inference]

site of double-strand break

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
catalytic activity	IEA
fumarate hydratase activity	ISS
fumarate hydratase activity	TAS
fumarate hydratase activity	IDA
fumarate hydratase activity	IMP

GO Hierarchy

molecular function

catalytic activity

carbon-oxygen lyase activity [inference]

hydro-lyase activity [inference]

fumarate hydratase activity

binding [inference]

protein binding

histone 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

(S)-malate

H₂O + fumarate

Enzyme

4.2.1.2

PMID

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:3908	lung non-small cell carcinoma	Alliance of Genome Resources
DOID:0111261	fumarase deficiency	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 91 in total

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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
OMIM:150800	hereditary leiomyomatosis and renal cell cancer
ORPHA:29072	hereditary pheochromocytoma-paraganglioma
OMIM:606812	fumaric aciduria
ORPHA:523	hereditary leiomyomatosis and renal cell cancer

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

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

Ortholog

Displaying 1 entry
Species	Gene ID	Alliance of Genome Resources
Mus musculus	14194	MGI:95530

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Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 6, 2026