Property Summary

NCBI Gene PubMed Count 81
Grant Count 89
R01 Count 21
Funding $22,828,409.64
PubMed Score 230.73
PubTator Score 450.54

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
pancreatic cancer -1.100 0.005
astrocytic glioma -1.600 0.035
psoriasis -2.200 0.000
group 4 medulloblastoma 2.000 0.000
medulloblastoma, large-cell 1.800 0.001
pancreatic ductal adenocarcinoma liver m... -1.639 0.001
non-small cell lung cancer 1.121 0.000
lung cancer 1.500 0.001
posterior fossa group B ependymoma 1.300 0.001
pancreatic carcinoma -1.100 0.005
aldosterone-producing adenoma -1.522 0.027
Pick disease -1.100 0.000
acute myeloid leukemia -1.300 0.011
ulcerative colitis -1.100 0.005
ovarian cancer 1.700 0.000

Synonym

Accession P07954 B1ANK7 Fumarase
Symbols MCL
FMRD
LRCC
HLRCC
MCUL1

Gene

FH

PANTHER Protein Class (1)

PDB

3E04   5D6B  

 GO Function (1)

Gene RIF (64)

PMID Text
26574848 While the great majority of patients with hereditary leiomyomatosis and renal cell carcinoma will have FH-deficient leiomyomas, 1% of all uterine leiomyomas are FH deficient usually due to somatic inactivation.
26493120 Describe a novel mutation in the fumarate hydratase gene in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer.
26457356 Morphology and immunohistochemistry for fumarate hydratase aid in detection of fumarate hydratase mutations in uterine leiomyomas from young patients.
26377099 significant association with overall survival were confirmed for SDHC gene, SDHD gene and FH gene ... SDHC gene and FH gene were the primary factors contributing to the different overall survival time of colorectal carcinoma
26275867 A novel deletion of the Fumarate Hydratase (FH) gene was identified in a 22 year old male and his father, which predisposes to an aggressive form of renal cell cancer.
26113603 Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval
25923021 Case report of a family with a fumarate hydratase mutation causing uterine leiomyomas and renal cell cancer.
25004247 These findings 1) confirm that germline FH mutations may present, albeit rarely with pheochromocytoma or paraganglioma; and 2) extend the clinical phenotype associated with FH mutations to pediatric pheochromocytoma.
24729973 A multiplex snapback primer system was developed for the simultaneous detection of JAK2 V617F and MPL W515L/K mutations in Philadelphia chromosome- (Ph-) negative myeloproliferative neoplasms (MPNs).
24684806 Novel missense mutation has been found in the fumarate hydratase gene in familial renal cell cancer patients lacking cutaneous leiomyomas.
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AA Sequence

MYRALRLLARSRPLVRAPAAALASAPGLGGAAVPSFWPPNAARMASQNSFRIEYDTFGELKVPNDKYYGA      1 - 70
QTVRSTMNFKIGGVTERMPTPVIKAFGILKRAAAEVNQDYGLDPKIANAIMKAADEVAEGKLNDHFPLVV     71 - 140
WQTGSGTQTNMNVNEVISNRAIEMLGGELGSKIPVHPNDHVNKSQSSNDTFPTAMHIAAAIEVHEVLLPG    141 - 210
LQKLHDALDAKSKEFAQIIKIGRTHTQDAVPLTLGQEFSGYVQQVKYAMTRIKAAMPRIYELAAGGTAVG    211 - 280
TGLNTRIGFAEKVAAKVAALTGLPFVTAPNKFEALAAHDALVELSGAMNTTACSLMKIANDIRFLGSGPR    281 - 350
SGLGELILPENEPGSSIMPGKVNPTQCEAMTMVAAQVMGNHVAVTVGGSNGHFELNVFKPMMIKNVLHSA    351 - 420
RLLGDASVSFTENCVVGIQANTERINKLMNESLMLVTALNPHIGYDKAAKIAKTAHKNGSTLKETAIELG    421 - 490
YLTAEQFDEWVKPKDMLGPK                                                      491 - 510
//

Text Mined References (87)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26574848 2016 Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.
26493120 2016 Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer.
26457356 2015 Morphology and Immunohistochemistry for 2SC and FH Aid in Detection of Fumarate Hydratase Gene Aberrations in Uterine Leiomyomas From Young Patients.
26377099 2015 Genetic variations in genes of metabolic enzymes predict postoperational prognosis of patients with colorectal cancer.
26275867 2016 Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned.
26113603 2015 Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25923021 2015 Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer.
25416956 2014 A proteome-scale map of the human interactome network.
More...