FH Gene
protein-coding GIFtS: 65
GCID: GC01M241660
|
|
fumarate hydratase
| |
Aliases
for FH gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Fumarate Hydratase1 2 | | MCL2 | | Fumarase3 | | MCUL12 | | EC 4.2.1.23 8 | | Fumarate Hydratase, Mitochondrial2 | | HLRCC2 | | Fumarase3 | | LRCC2 | | |
Export aliases for FH gene to outside databasesPrevious GC identifers: GC01M239746 GC01M237114 GC01M237957 GC01M238702 GC01M237986 GC01M212119 |
Summaries
for FH gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for FH:
The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, andcatalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form,differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion,where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostableclass II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead toprogressive encephalopathy. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: FUMH_HUMAN, P07954Function: Also acts as a tumor suppressor
|
Genomic Views
for FH gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_167186.1
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the FH gene promoter:
HFH-3 p53 NRSF form 1 FOXD3 NRSF form 2 FOXI1 FOXO4 NF-kappaB1 FOXO1
Other transcription factors
Search SABiosciences Chromatin IP Primers for FH
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FH |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1q42.1 Ensembl cytogenetic band: 1q43 HGNC cytogenetic band: 1q42.1FH Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M241660: view genomic region
(about GC identifiers)
Start:
|
241,660,857 bp from pter |
End:
|
241,683,085 bp from pter |
Size:
|
22,229 bases |
Orientation:
|
minus strand |
|
Proteins
for FH gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: FUMH_HUMAN, P07954 (See
protein sequence)Recommended Name: Fumarate hydratase, mitochondrial precursor Size: 510 amino acids; 54637 Da
Subunit: Homotetramer
Subcellular location: Isoform Mitochondrial: Mitochondrion
Subcellular location: Isoform Cytoplasmic: Cytoplasm
Miscellaneous: There are 2 substrate binding sites: the catalytic A site, and the non-catalytic B site that may play arole in the transfer of substrate or product between the active site and the solvent. Alternatively, the B site maybind allosteric effectors (By similarity)
1 PDB 3D structure from  and Proteopedia  for FH:3E04 (3D)
Alternative initiation: 2 isoforms: P07954-1 P07954-2 (Initiator Met-1 is removed. Contains a N-acetylalanine at position 2 (By similarity))Explore the universe of human proteins at neXtProt for FH: NX_P07954
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P07954
4/38 DME Specific Peptides for FH (P07954) (see all 38)
FH Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000134.2
ENSEMBL proteins: ENSP00000355518 Reactome Protein details: P07954
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
FH for ontologies About GeneDecksing
FH Antibody Products:
Assay Products for FH: |
Protein
Domains /
Families
for FH gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
FH for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry P07954ProtoNet protein and cluster: P07954 2 Blocks protein families: IPB000362 Fumarate lyase IPB003031 Delta crystallin signature
UniProtKB/Swiss-Prot: FUMH_HUMAN, P07954Similarity: Belongs to the class-II fumarase/aspartase family. Fumarase subfamily |
Function
for FH gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: FUMH_HUMAN, P07954Function: Also acts as a tumor suppressorCatalytic activity: (S)-malate = fumarate + H(2)O Genatlas biochemistry entry for FH:fumarate hydratase,mitochondrial,catalyzing the seventh step of citric acid cycle
Enzyme Number (IUBMB): EC 4.2.1.21 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FH (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FH
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): FH (NM_006885) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FH | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FH |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FH |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004333 | fumarate hydratase activity |
EXP | -- |
FH for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for FH:
Animal Models:
Mouse knock-out Fh1tm1.1Pjp for FH
3 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Fh1):
FH for phenotypes About GeneDecksing
|
Pathways & Interactions
for FH gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | TCA Cycle | | | 2 | Metabolism | | | 3 | TCA cycle II (eukaryotic) | | | 4 | Glucose / Energy Metabolism | | | 5 | Renal cell carcinoma | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Cell Signaling Technology (CST) Pathway for FH
2  BioSystems Pathways for FH
4 
Reactome Pathways for FH
4 
Kegg Pathways (Kegg details for FH):
UniProtKB/Swiss-Prot: FUMH_HUMAN, P07954Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; (S)-malate from fumarate: step 1/1
FH for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FH
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/107 Interacting proteins for FH (P079543 ENSP000003555184) via UniProtKB, MINT, STRING, and/or I2D (see all 107)
About this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006099 | tricarboxylic acid cycle |
TAS | -- | | GO:0006106 | fumarate metabolic process |
IEA | -- | | GO:0006108 | malate metabolic process |
-- | -- | | GO:0044281 | small molecule metabolic process |
TAS | -- | | GO:0048873 | homeostasis of number of cells within a tissue |
IEA | -- |
FH for ontologies About GeneDecksing
|
Drugs & Compounds
for FH gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
FH for compounds About GeneDecksing
 Browse Tocris compounds for FH
4 HMDB Compounds for FH About this table
10/30 Novoseek chemical compound relationships for FH gene (see all 30) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| fumarate |
96.5 |
269 |
12177782 (5), 16892081 (4), 16098467 (3), 19778456 (3) (see all 99) |
| malate |
80.7 |
36 |
11797209 (2), 11084597 (2), 14711508 (1), 2182383 (1) (see all 27) |
| succinate |
79 |
49 |
16892081 (4), 19778456 (3), 14708972 (2), 17520677 (2) (see all 29) |
| isocitrate |
76.8 |
11 |
8929280 (1), 17884296 (1), 1471744 (1), 19227842 (1) (see all 10) |
| alpha-ketoglutarate |
67.4 |
6 |
8338207 (1), 20394787 (1), 16906525 (1), 19733154 (1) (see all 6) |
| oxaloacetate |
57.6 |
4 |
16154636 (1), 1350279 (1), 7511585 (1) |
| citrate |
51.6 |
7 |
14756538 (1), 16154636 (1), 20394787 (1), 19733154 (1) (see all 6) |
| pyruvate |
49.3 |
10 |
12597053 (1), 16154636 (1), 17383644 (1), 16120399 (1) (see all 7) |
| citric acid |
45.5 |
5 |
9635293 (1), 20394787 (1), 19733154 (1), 1901574 (1) (see all 5) |
| glyoxylate |
41.8 |
1 |
14526533 (1) |
Search CenterWatch for drugs/clinical trials and news about FH / FUMH
|
Transcripts
for FH gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for FH gene: NM_000143.3 Unigene Cluster for FH: Fumarate hydratase Hs.592490 [show with all ESTs]Unigene Representative Sequence: NM_0001433 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000366560(uc001hyx.3) ENST00000497042 ENST00000493477
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FH (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FH
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): FH (NM_006885) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for FH | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FH |
Additional cDNA sequence: AK312415.1 BC003108.1 BC017444.1 BT009839.1 M15502.1 U48857.1 U59309.1 10 DOTS entries: DT.455566 DT.100663120 DT.95257355 DT.100663118 DT.455565 DT.121381685 DT.100663122 DT.100044892 DT.121381680 DT.40289270 24/419 AceView cDNA sequences (see all 419): BM550433 AA349354 BQ676713 AA995089 AI140963 BU839325 AI127003 BM821406 BP338906 BM556742 BU690091 BM726264 AI472943 CR594789 CB154327 BQ893266 BC017444 BQ059822 AI339465 BE263715 BU850293 AI971779 BU859633 BU553543
GeneLoc Exon Structure
|
Expression
for FH gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| FH expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TATAAAATTT
About this image
See FH Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FH
SOURCE GeneReport for Unigene cluster: Hs.592490
UniProtKB/Swiss-Prot: FUMH_HUMAN, P07954Tissue specificity: Expressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients withhereditary non-spherocytic hemolytic anemia of unknown etiology
SABiosciences Expression via Pathway-Focused PCR Arrays including FH:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FH
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FH | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FH | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FH | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FH |
Orthologs
for FH gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for FH gene from 11/42 species (see all 42) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Fh11 , 5 |
fumarate hydratase 11, 5 |
87.38(n)1
93.29(a)1 |
|
1 (81.58 cM)5
141941 NM_010209.21 NP_034339.21
1756003745 |
chicken
(Gallus gallus) |
Aves |
FH1 |
fumarate hydratase |
79.24(n)
87.62(a) |
|
420969 NM_001006382.1 NP_001006382.1 |
lizard
(Anolis carolinensis) |
Reptilia |
FH6 |
-- |
91(a) |
1 ↔ 1 |
6(56606331-56616696) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.242992 |
Xenopus laevis transcribed sequence with moderate similarity more |
80.34(n) |
|
CF271483.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
zgc662532 |
fumarate hydratase precursor |
75.16(n) |
|
393938 BC055566.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG40943
l(1)G02551 |
fumarate hydratase3
lethal (1) G02551 |
70(a)
(best of 2)3
65.67(n)1
77.09(a)1 |
|
6C53
316051 NM_132111.21 NP_572339.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
fum-11 |
Protein FUM-1 |
65.78(n)
73.73(a) |
|
176059 NM_066241.6 NP_498642.1 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
FUM1(YPL262W)4
FUM11 |
Fumarase, converts fumaric acid to L-malic acid in more4
Fum1p1 |
61.33(n)1
67.16(a)1 |
|
16(47336-48802)4
8558661, 4 NP_015061.11, 4 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
FUM21 |
fumarate hydratase 2 |
66.09(n)
70.39(a) |
|
835168 NM_124474.3 NP_199908.1 |
rice
(Oryza sativa) |
Liliopsida |
Os.67832 |
Transcribed sequence with moderate similarity to protein more |
77.72(n) |
|
CA767533.2 |
ENSEMBL Gene Tree for FH (if available)
TreeFam Gene Tree for FH (if available) |
Paralogs
for FH gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for FH gene
FH for paralogs About GeneDecksing
2 Pseudogenes.org Pseudogenes for FH
PGOHUM00000248575 PGOHUM00000251301
|
Genomic Variants
for FH gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for FH (241660857 - 241683085 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for FH: --
Human Gene Mutation Database (HGMD): FH
Locus Specific Mutation Databases (LSDB): FH
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FH |
|
Disorders
/ Diseases
for FH gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
FH for disorders About GeneDecksing
OMIM gene information: 136850
OMIM disorders: 606812 150800 605839
UniProtKB/Swiss-Prot: FUMH_HUMAN, P07954
Defects in FH are the cause of fumarase deficiency (FHD) [MIM:606812]; also known as fumaricaciduria. FHD ischaracterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvicacidemia Defects in FH are the cause of hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]. Adisorder characterized by predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer whichoccurs in about 20% of patients
20/57  diseases for FH (see all 57): About MalaCardsfumarase deficiency multiple cutaneous and uterine leiomyomata mitochondrial complex i deficiency leiomyomatosis
renal clear cell carcinoma leiomyomatosis and renal cell cancer hereditary leiomyomatosis and renal cell cancer mucinous ovarian cystadenoma
multiple cutaneous and uterine leiomyomas mitochondrial encephalomyopathy uterine fibroid leiomyosarcoma
myoma leydig cell tumor cutaneous leiomyosarcoma familial renal cell carcinoma
cutaneous leishmaniasis encephalomyopathy renal oncocytoma adrenal hyperplasia
4 diseases from the University of Copenhagen DISEASES database for FH:Leiomyoma Renal cell carcinoma Leiomyosarcoma Mucinous ovarian cystadenoma 10/30 Novoseek disease relationships for FH gene (see all 30) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| hlrcc |
98.9 |
93 |
15937070 (4), 18503824 (4), 20056206 (3), 15741255 (3) (see all 39) |
| fumarase deficiency |
98.1 |
27 |
9635293 (3), 1557269 (3), 8200987 (3), 12597053 (2) (see all 17) |
| leiomyomatosis |
96.3 |
68 |
12183404 (2), 16029320 (2), 19963135 (2), 15937070 (2) (see all 36) |
| uterine leiomyoma |
84 |
46 |
19075141 (3), 16029320 (3), 19151755 (3), 14695314 (3) (see all 18) |
| uterine leiomyosarcoma |
82.6 |
5 |
14695314 (2), 12183404 (1), 16477632 (1) |
| carcinoma renal cell |
82.4 |
74 |
12183404 (3), 19963135 (2), 14695314 (2), 14632190 (2) (see all 35) |
| renal cancer |
82 |
22 |
16029320 (3), 16098467 (2), 18986479 (2), 17270241 (1) (see all 15) |
| leiomyoma |
81 |
28 |
12183404 (3), 16029320 (3), 15949892 (3), 14695314 (2) (see all 14) |
| paraganglioma |
64.3 |
2 |
15987702 (1), 14708972 (1) |
| cancer syndromes hereditary |
61.3 |
2 |
15579028 (1) |
Genatlas disease: FH fumaricaciduria,mitochondrial encephalomyopathy
GeneTests: FH
Hereditary Leiomyomatosis and Renal Cell CancerFumarate Hydratase Deficiency
Genetic Association Database (GAD): FH
Human Genome Epidemiology (HuGE) Navigator: FH (614 documents)
Export disorders for FH gene to outside databases
|
Publications
for FH gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for FH gene, integrated from 9 sources (see all 207):
(articles sorted by number of sources associating them with FH) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. (PubMed id 12772087)1, 4, 9 Toro J.R....Zbar B. (2003)
- Germline fumarate hydratase mutations in families wit h multiple cutaneous and uterine leiomyomata. (PubMed id 14632190)1, 4, 9 Martinez-Mir A....Zlotogorski A. (2003)
- Molecular analysis and prenatal diagnosis of human fumarase deficiency. (PubMed id 9635293)1, 2, 9 Coughlin E.M.... Shih V.E. (1998)
- Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. (PubMed id 11865300)1, 2, 9 Tomlinson I.P.M.... Aaltonen L.A. (2002)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Nucleotide sequence of a cDNA coding for mitochondrial fumarase from human liver. (PubMed id 3828494)1, 2 Kinsella B.T. and Doonan S. (1986)
- Fumarase: a mitochondrial metabolic enzyme and a cyto solic/nuclear component of the DNA damage response. (PubMed id 20231875)1, 9 Yogev O....Pines O. (2010)
- Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors. (PubMed id 14695314)4, 9 Lehtonen R....Aaltonen L.A. (2004)
- Mitochondrial import of human and yeast fumarase in live mammalian cells: retrograde translocation of the yeast enzyme is mainly caused by its poor targeting sequence. (PubMed id 16774737)1, 9 Singh B. and Gupta R.S. (2006)
- A cancer-predisposing 'hot spot' mutation of the fumarase gene creates a dominant negative protein. (PubMed id 17960613)1, 9 Lorenzato A....Di Renzo M.F. (2008)
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External Searches for FH gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing FH gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing FH gene
(According to HUGE)
About This Section
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Specialized Databases showing FH gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for FH | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for FH | Genetics and Cytogenetics in Oncology and Haematology | | TCA Cycle Gene Mutation Database | http://chromium.liacs.nl/LOVD2/SDH/home.php?select_db=FH | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FH |
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About This Section
| Patent Information for FH gene:
Search GeneIP for patents involving FH
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for FH gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
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| | |  | OriGene Antibodies for FH | | OriGene shRNA RFP for FH | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FH | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FH | | | OriGene Protein Over-expression Lysate for FH | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for FH | | OriGene 3'-UTR Clone for FH | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FH | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FH | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for FH | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for FH | | OriGene Custom Protein Services for FH | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FH | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FH | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FH | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FH | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FH | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FH |
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| | Antibodies & Assays for FH |
| | | | Search Tocris compounds for FH |
| |  |  |  |  | | | | | | Recombinant Protein for FH |
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 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FH |
|  |  |  | | | | ThermoFisher Antibody for FH |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FH |
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