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
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
Gene Ontology (GO)
Displaying entry 6 - 6 of 6 in total
GO Term Evidence Code PMID
tricarboxylic acid cycle
GO Hierarchy
Human Protein Atlas
ENSG00000091483

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

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

KEGG BRITE Database
Orthology
K01679
Name
fumarate hydratase, class II [EC:4.2.1.2]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 192 in total
DO ID Disease Name Source
DOID:0050387 nonpapillary renal cell carcinoma
DOID:0050424 familial adenomatous polyposis
DOID:0050430 multiple endocrine neoplasia type 2A
DOID:0050589 inflammatory bowel disease
DOID:0050590 severe congenital neutropenia
DOID:0050746 mantle cell lymphoma
DOID:0050771 pheochromocytoma
DOID:0050773 paraganglioma
DOID:0050811 congenital adrenal hyperplasia
DOID:0050873 follicular lymphoma
The Human Phenotype Ontology
Displaying entries 51 - 60 of 91 in total
HPO ID HPO Term
HP:0002365 Hypoplasia of the brainstem
HP:0002574 Episodic abdominal pain
HP:0002640 Hypertension associated with pheochromocytoma
HP:0002668 Paraganglioma
HP:0002864 Paraganglioma of head and neck
HP:0002891 Uterine leiomyosarcoma
HP:0002904 Hyperbilirubinemia
HP:0003011 Abnormality of the musculature
HP:0003072 Hypercalcemia
HP:0003128 Lactic acidosis
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024