Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2271
Gene name Gene Name - the full gene name approved by the HGNC.	Fumarate hydratase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FH
Synonyms (NCBI Gene) Gene synonyms aliases	FMRD, HLRCC, HsFH, LRCC, MCL, MCUL1
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q43
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in

Show/Hide all(218)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2070080	G>A,T	Benign, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs11545654	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs11545655	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs11545658	G>A	Pathogenic	Stop gained, coding sequence variant
rs61736558	C>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs75086406	C>G,T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913119	C>G	Pathogenic	Missense variant, coding sequence variant
rs121913120	G>A	Pathogenic	Stop gained, coding sequence variant
rs121913121	T>G	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121913122	G>A	Pathogenic	Stop gained, coding sequence variant
rs121913123	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs144131869	GAGAGAGAGAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAG	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs145116688	T>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs199822819	G>C,T	Pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs199971078	G>A,C	Pathogenic, benign, uncertain-significance, likely-benign	Upstream transcript variant, coding sequence variant, stop gained, synonymous variant, genic upstream transcript variant
rs200004220	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs200496951	G>A,C	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant, 5 prime UTR variant
rs200796606	T>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs201395553	C>A,G	Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202166344	G>A,C	Pathogenic, uncertain-significance	Upstream transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, stop gained
rs367543046	->TTT	Likely-pathogenic, pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe insertion
rs369802820	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs372505976	T>C,G	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs376260223	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs387906545	C>T	Pathogenic	Coding sequence variant, missense variant
rs398123159	A>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs398123160	G>A	Pathogenic	Coding sequence variant, stop gained
rs398123162	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs398123163	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs398123164	C>T	Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs398123165	CTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs398123166	G>A,C,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs398123167	G>A	Pathogenic	Coding sequence variant, stop gained
rs398123168	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs587781682	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs587782207	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, 5 prime UTR variant
rs587782216	T>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs587782618	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727503926	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs727503927	A>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs727503928	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs750273092	T>A,C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs750447792	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs752232718	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs755436052	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs756469140	CATT>-	Pathogenic	Frameshift variant, coding sequence variant
rs768182640	->CA	Pathogenic	Coding sequence variant, frameshift variant
rs772190176	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs776190273	T>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs776313200	T>A,C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs776806414	T>A,C,G	Likely-pathogenic, uncertain-significance	Initiator codon variant, missense variant, upstream transcript variant, genic upstream transcript variant
rs779707997	T>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs780001199	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs781466938	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant, stop gained
rs786202220	GCATGGCAGCTTTTATTCTTG>-	Pathogenic, likely-pathogenic	Coding sequence variant, inframe deletion
rs786202907	GCA>-	Likely-pathogenic, uncertain-significance	Coding sequence variant, inframe deletion
rs794727698	C>G	Pathogenic	Splice acceptor variant
rs794727836	ACAAAAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs797044973	C>G,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs797044974	C>A	Pathogenic	Coding sequence variant, stop gained
rs863223965	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs863223966	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs863223968	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs863223972	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs863223973	A>C,G	Likely-benign, likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs863223977	T>A	Pathogenic	Coding sequence variant, stop gained
rs863223978	C>G,T	Pathogenic, likely-pathogenic, uncertain-significance	Splice acceptor variant
rs863223979	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs863223980	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs863223981	->A	Pathogenic	Coding sequence variant, frameshift variant
rs863223982	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, 5 prime UTR variant
rs863223984	->GCTTTTATTCTTGTCATTGCA	Likely-pathogenic	Inframe insertion, coding sequence variant
rs863223985	CAGCAGTGCCTCCAGCTGCGA>-	Pathogenic	Coding sequence variant, inframe deletion
rs863223987	GGC>AGT	Likely-pathogenic	Missense variant, coding sequence variant
rs863223988	GTCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs863223989	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs863223990	TCAT>-,TCATTCAT	Pathogenic	Inframe insertion, coding sequence variant, frameshift variant, stop gained
rs863223991	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs863223992	->GAGT	Pathogenic	Coding sequence variant, frameshift variant
rs863223993	->T	Pathogenic	Coding sequence variant, frameshift variant
rs863223994	->CCATTTTT	Pathogenic	Coding sequence variant, frameshift variant
rs863223995	ATTTA>-	Pathogenic	Coding sequence variant, stop gained
rs863223998	G>A	Pathogenic	Coding sequence variant, stop gained
rs863224000	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs863224001	C>A,T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs863224002	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs863224003	A>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs863224004	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs863224006	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs863224007	C>T	Pathogenic	Missense variant, coding sequence variant
rs863224008	T>A	Pathogenic	Splice acceptor variant
rs863224009	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs863224010	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs863224011	C>T	Pathogenic	Splice acceptor variant
rs863224013	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained, 5 prime UTR variant
rs863224015	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs863224016	->A	Pathogenic	Coding sequence variant, frameshift variant
rs863224017	CTTCAAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs876658569	C>-	Pathogenic	Coding sequence variant, stop gained
rs876660446	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs878853691	C>G,T	Pathogenic	Splice donor variant
rs878853694	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs886039363	C>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs886039364	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs886039365	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs886039367	C>A	Pathogenic, likely-pathogenic	Splice donor variant
rs886039368	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs886041201	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs886042044	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1031919395	A>C,T	Pathogenic, uncertain-significance	5 prime UTR variant, stop gained, coding sequence variant
rs1057517734	C>A	Likely-pathogenic, pathogenic	Splice donor variant
rs1057521425	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057524385	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1060499629	CCACTTACTG>-	Pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1060499630	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1060499631	A>-	Pathogenic	Stop gained, coding sequence variant
rs1060499633	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1060499634	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060499635	TGCTGT>-	Likely-pathogenic, pathogenic	Inframe deletion, coding sequence variant
rs1060499636	A>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1060499637	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060499638	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1060499639	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1060499641	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060499642	C>A	Pathogenic	Stop gained, coding sequence variant
rs1060499643	T>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1060499644	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060499645	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1060500883	A>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1060500896	G>A,C,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1060500900	->G	Uncertain-significance, pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1060500901	A>G	Pathogenic-likely-pathogenic	Splice donor variant
rs1060500902	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1060500903	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060500904	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060500907	CTGCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064792900	TACCTGCCCAAGAGTAAGTG>-	Pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1064793125	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793126	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793741	T>C	Pathogenic	Splice acceptor variant
rs1064795320	T>-	Likely-pathogenic	Splice acceptor variant
rs1064796708	A>C	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1131691234	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131691235	CT>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1131691237	G>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1131691238	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691239	G>A	Pathogenic	Stop gained, coding sequence variant
rs1131691240	T>C	Pathogenic	Splice acceptor variant
rs1131691241	A>G	Likely-pathogenic	Splice donor variant
rs1131691243	C>A	Pathogenic	Stop gained, coding sequence variant
rs1131691244	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1131691245	G>C	Pathogenic	Stop gained, coding sequence variant
rs1131691246	->TTCA	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1131691248	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131691249	C>G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1131691622	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1158759883	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1355199594	G>A,C	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs1375252870	C>G,T	Likely-pathogenic	Splice donor variant
rs1439046582	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553340506	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1553340681	->GTTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTT	Pathogenic	Coding sequence variant, frameshift variant
rs1553340686	->ATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTTTCTG	Pathogenic	Coding sequence variant, frameshift variant
rs1553340687	C>A	Pathogenic	Stop gained, coding sequence variant
rs1553340708	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1553340709	A>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1553341012	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553341026	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553341031	G>T	Pathogenic	Stop gained, coding sequence variant
rs1553341034	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1553341046	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553341049	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553341148	C>T	Likely-pathogenic	Splice donor variant
rs1553341163	TA>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1553341174	T>C,G	Likely-pathogenic	Splice acceptor variant
rs1553341337	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553341345	A>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1553341353	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553341367	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553341582	C>G	Likely-pathogenic	Intron variant
rs1553341610	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1553341623	C>T	Pathogenic	Splice acceptor variant
rs1553341942	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1553341945	->A	Pathogenic	Stop gained, coding sequence variant
rs1553341951	->C	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1553342155	G>AT	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1558396285	A>G	Likely-pathogenic	Splice donor variant
rs1558396320	C>A	Pathogenic	Stop gained, coding sequence variant
rs1558397011	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558400571	G>A	Pathogenic	Stop gained, coding sequence variant
rs1558401064	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558401094	TTACTTCAGCGGCCGCTCG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558402241	A>C,T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1558402255	->GGCA	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1573876584	C>A	Pathogenic	Coding sequence variant, stop gained
rs1573878004	->TTCT	Pathogenic	Coding sequence variant, frameshift variant
rs1573878071	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1573878145	T>A	Pathogenic	Coding sequence variant, stop gained
rs1573878149	C>A	Likely-pathogenic	Splice acceptor variant
rs1573879289	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1573879313	GTTCCCCATG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1573881533	ACTAACCTGTAAGTGCAGC>-	Pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1573881629	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1573881633	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1573883195	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1573883310	TGCATTGCTGTGGGAAAAGTATCA>C	Pathogenic	Coding sequence variant, frameshift variant
rs1573883342	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1573885482	G>C	Pathogenic	Coding sequence variant, stop gained
rs1573885503	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1573885519	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1573886367	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1573886415	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1573886490	TAA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1573888356	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1573888513	C>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1573888556	AATTTTGG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1573889860	AGCCGCGTTCG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1573890070	->T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant

Show/Hide all(5)

miRTarBase ID	miRNA	Experiments	Reference
MIRT047393	hsa-miR-34a-5p	CLASH	23622248
MIRT030090	hsa-miR-26b-5p	Luciferase reporter assay, qRT-PCR, Western blot	26078955
MIRT996331	hsa-miR-4708-5p	CLIP-seq
MIRT996332	hsa-miR-4720-3p	CLIP-seq
MIRT996333	hsa-miR-4804-3p	CLIP-seq

Show/Hide all(47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000050	Process	Urea cycle	IEA
GO:0000050	Process	Urea cycle	ISS
GO:0000050	Process	Urea cycle	ISS
GO:0000821	Process	Regulation of arginine metabolic process	ISS
GO:0003824	Function	Catalytic activity	IEA
GO:0004333	Function	Fumarate hydratase activity	IBA
GO:0004333	Function	Fumarate hydratase activity	IDA	26237645, 30718813, 30761759
GO:0004333	Function	Fumarate hydratase activity	IEA
GO:0004333	Function	Fumarate hydratase activity	IMP	29456767
GO:0004333	Function	Fumarate hydratase activity	TAS	3828494
GO:0005515	Function	Protein binding	IPI	25416956, 26237645, 32296183, 39251607
GO:0005634	Component	Nucleus	IDA	20231875, 26237645
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	27037871
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	8200987
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	27037871
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	8200987
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA	20231875
GO:0005829	Component	Cytosol	IEA
GO:0006099	Process	Tricarboxylic acid cycle	IBA
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006106	Process	Fumarate metabolic process	IBA
GO:0006106	Process	Fumarate metabolic process	IDA	26237645, 30718813, 30761759
GO:0006106	Process	Fumarate metabolic process	IEA
GO:0006106	Process	Fumarate metabolic process	TAS	8200987
GO:0006108	Process	Malate metabolic process	IBA
GO:0006108	Process	Malate metabolic process	IDA	30761759
GO:0006281	Process	DNA repair	IEA
GO:0006525	Process	Arginine metabolic process	IEA
GO:0006525	Process	Arginine metabolic process	ISS
GO:0006974	Process	DNA damage response	IDA	20231875, 26237645
GO:0006974	Process	DNA damage response	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0035861	Component	Site of double-strand break	IDA	26237645
GO:0042393	Function	Histone binding	IPI	26237645
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	27554470
GO:2001034	Process	Positive regulation of double-strand break repair via nonhomologous end joining	IDA	26237645

MIM	HGNC	e!Ensembl
136850	3700	ENSG00000091483

Protein

UniProt ID

P07954

Protein name

Fumarate hydratase, mitochondrial (Fumarase) (HsFH) (EC 4.2.1.2)

Protein function

Catalyzes the reversible stereospecific interconversion of fumarate to L-malate (PubMed:30761759). Experiments in other species have demonstrated that specific isoforms of this protein act in defined pathways and favor one direction over the oth

PDB

3E04 , 5D6B , 5UPP , 6EBT , 6V8F , 6VBE , 7LUB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00206	Lyase_1	58 → 389	Lyase	Domain
PF10415	FumaraseC_C	455 → 508	Fumarase C C-terminus	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology. {ECO:0000269|PubMed:22509282}.

Sequence

MYRALRLLARSRPLVRAPAAALASAPGLGGAAVPSFWPPNAARMASQNSFRIEYDTFGEL
KVPNDKYYGAQTVRSTMNFKIGGVTERMPTPVIKAFGILKRAAAEVNQDYGLDPKIANAI
MKAADEVAEGKLNDHFPLVVWQTGSGTQTNMNVNEVISNRAIEMLGGELGSKIPVHPNDH
VNKSQSSNDTFPTAMHIAAAIEVHEVLLPGLQKLHDALDAKSKEFAQIIKIGRTHTQDAV
PLTLGQEFSGYVQQVKYAMTRIKAAMPRIYELAAGGTAVGTGLNTRIGFAEKVAAKVAAL
TGLPFVTAPNKFEALAAHDALVELSGAMNTTACSLMKIANDIRFLGSGPRSGLGELILPE
NEPGSSIMPGKVNPTQCEAMTMVAAQVMGNHVAVTVGGSNGHFELNVFKPMMIKNVLHSA
RLLGDASVSFTENCVVGIQANTERINKLMNESLMLVTALNPHIGYDKAAKIAKTAHKNGS
TLKETAIELGYLTAEQFDEWVKPKDMLGPK

Sequence length

510

Interactions

View interactions

	KEGG		Reactome
	Citrate cycle (TCA cycle) Pyruvate metabolism Metabolic pathways Carbon metabolism Cushing syndrome Pathways in cancer Renal cell carcinoma		Citric acid cycle (TCA cycle)

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Fumarase Deficiency	fumarase deficiency	rs587781682, rs121913120, rs398123159, rs863224004, rs1553341012, rs886039362, rs587782618, rs1064796708, rs797044973, rs886041201, rs121913122, rs756469140, rs786202220, rs863223978, rs398123163 View all (24 more)	N/A
Hereditary Leiomyomatosis and Renal Cancer	hereditary leiomyomatosis and renal cell cancer	rs1060499633, rs750447792, rs779707997, rs1553341031, rs886039363, rs797044974, rs1573881533, rs1060499641, rs587782618, rs1060499631, rs1060500883, rs863223995, rs797044973, rs780001199, rs398123160 View all (64 more)	N/A
hereditary cancer	Hereditary cancer	rs1573880531	N/A
Spinocerebellar Ataxia	spinocerebellar ataxia 45	rs121913123	N/A

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Hepatoblastoma	hepatoblastoma	N/A	N/A	ClinVar
hepatocellular carcinoma	Hepatocellular carcinoma	N/A	N/A	ClinVar
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Microcephaly	microcephaly	N/A	N/A	ClinVar
ovarian cancer	Ovarian cancer	N/A	N/A	ClinVar
Pheochromocytoma	pheochromocytoma-paraganglioma	N/A	N/A	GenCC

Show/Hide Text Mining Associations (56)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abortion Spontaneous	Associate	28700432
Acth Independent Macronodular Adrenal Hyperplasia	Associate	19509103
Acute On Chronic Liver Failure	Associate	36317513
Adenoma Islet Cell	Associate	36455002
Brain Diseases	Associate	18313410, 18366737, 8200987
Breast Neoplasms	Associate	16155190, 36866961
Carcinogenesis	Associate	18313410
Carcinoma Papillary	Associate	24684806
Carcinoma Renal Cell	Associate	14632190, 14695314, 16155190, 19075141, 21304509, 21398687, 21695080, 22014576, 23071355, 24346898, 24419633, 24625422, 25564569, 26113603, 26493120 View all (17 more)
Cockayne Syndrome	Associate	34105807
Colorectal Neoplasms	Associate	26377099, 34572494
Diabetic Retinopathy	Associate	32294661
Disease	Associate	28171700
Drug Related Side Effects and Adverse Reactions	Associate	36190452
Dystonic Disorders	Associate	27187686, 34724198
Fumaric aciduria	Associate	18366737, 22595425, 31444830, 32251007, 32612247, 34724198, 37580017, 8200987
Fumaric aciduria	Inhibit	34360727, 34515613, 35993574, 38390749, 8200987
Genetic Diseases Inborn	Associate	24419633, 26574848, 31444830
Glioblastoma	Associate	17233837
Glomerulonephritis Membranous	Inhibit	32712166
Hereditary leiomyomatosis and renal cell cancer	Associate	11283798, 12177782, 12772087, 14632190, 14695314, 15761418, 15937070, 16155190, 16597677, 17383644, 18366737, 19075141, 19470762, 20056206, 20231875 View all (64 more)
Hereditary leiomyomatosis and renal cell cancer	Inhibit	33402335
Immunologic Deficiency Syndromes	Inhibit	28747166
Immunologic Deficiency Syndromes	Associate	31299266
Infections	Associate	4246353
Infertility	Associate	28700432
Infertility Male	Associate	20056206
Inflammation	Associate	36890227
Kidney Diseases	Associate	31773923
Kidney Neoplasms	Associate	12772087, 15937070, 16098467, 22867999, 23038766, 24441663, 24625422, 25028521, 27635946, 28122802, 28171700, 28747166, 28787086, 29267457, 29410489 View all (8 more)
Leiomyoma	Associate	11283798, 14695314, 15937070, 18313410, 19075141, 22528940, 23211287, 24309325, 26787895, 27015034, 28863073, 31471882, 31773923, 34480341, 37561409
Leiomyoma	Inhibit	17383644
Leiomyomatosis	Associate	20628236, 24346898
Leiomyosarcoma	Associate	14695314, 16155190
Liver Failure	Associate	36317513
Lupus Erythematosus Systemic	Associate	36890227
Lymphedema Congenital Recessive	Associate	34724198
MELAS Syndrome	Associate	18313410
Mitochondrial Encephalomyopathies	Associate	18313410
Multiple Endocrine Neoplasia Type 1	Associate	34105807
Multiple Sclerosis	Inhibit	34841955
Neoplasm Metastasis	Associate	27635946
Neoplasms	Inhibit	11283798, 14632190, 25439147, 27635946, 36190452
Neoplasms	Associate	16098467, 18313410, 18366737, 20231875, 20590333, 21304509, 22343896, 22867999, 23071355, 23443020, 23604282, 24346898, 25028521, 25232952, 26472283 View all (20 more)
Neoplastic Syndromes Hereditary	Associate	26472283, 28289076, 30013182
Neuropathy ataxia and retinitis pigmentosa	Associate	18313410
Pancreatic Neoplasms	Associate	28260082
Papillary renal cell carcinoma sporadic	Associate	24684806
Paraganglioma	Associate	26472283, 30013182, 35993574, 36773955
Pheochromocytoma	Associate	26472283, 30050099, 35993574, 36773955
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	34515613
Prostatic Neoplasms	Associate	24837709
Smooth Muscle Tumor	Associate	24309325, 26472283, 33338329
Tachycardia Atrioventricular Nodal Reentry	Associate	27635946
Tricarboxylic Acid Cycle Defect of	Associate	8200987
Uterine Neoplasms	Associate	16155190, 17383644, 22528940

FH (fumarate hydratase)