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FH Gene

protein-coding   GIFtS: 69
GCID: GC01M241660

Fumarate Hydratase

  See FH-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Fumarate Hydratase1 2     MCL2
EC 4.2.1.23 8     fumarase2
HLRCC2 5     Fumarate Hydratase, Mitochondrial2
MCUL12 5     Fumarase3
LRCC2     

External Ids:    HGNC: 37001   Entrez Gene: 22712   Ensembl: ENSG000000914837   OMIM: 1368505   UniProtKB: P079543   

Export aliases for FH gene to outside databases

Previous GC identifers: GC01M239746 GC01M237114 GC01M237957 GC01M238702 GC01M237986 GC01M212119


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FH 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 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 thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase
deficiency and lead to progressive encephalopathy. (provided by RefSeq, Jul 2008)

GeneCards Summary for FH Gene:
FH (fumarate hydratase) is a protein-coding gene. Diseases associated with FH include cutaneous leiomyosarcoma, and myoma.

UniProtKB/Swiss-Prot: FUMH_HUMAN, P07954
Function: Also acts as a tumor suppressor




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_167186.2  
Regulatory elements:
   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

SwitchGear Promoter luciferase reporter plasmidFH promoter sequence
   Search Chromatin IP Primers for FH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: 1q42.1

FH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FH gene location

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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FUMH_HUMAN, P07954 (See protein sequence)
Recommended Name: Fumarate hydratase, mitochondrial precursor  
Size: 510 amino acids; 54637 Da
Subunit: Homotetramer
Miscellaneous: There are 2 substrate-binding sites: the catalytic A site, and the non-catalytic B site that may
play a role in the transfer of substrate or product between the active site and the solvent. Alternatively, the B
site may bind 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

Explore proteomics data for FH at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys94
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for FH (P07954) (see all 38)
     AKIAKTA  ELNVFKP  SGPRSGL  PLTLGQE 


    See FH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000134.2  
    ENSEMBL proteins: 
     ENSP00000355518  
    Reactome Protein details: P07954

    FH Human Recombinant Protein Products:

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    Novus Biologicals FH Proteins
    Novus Biologicals FH Lysate
    Sino Biological Recombinant Protein for FH
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for FH
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for FH 

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    FH Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for FH 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR022761 Fumarate_lyase_N
     IPR020557 Fumarate_lyase_CS
     IPR008948 L-Aspartase-like
     IPR000362 Fumarate_lyase_fam
     IPR005677 Fum_hydII

    Graphical View of Domain Structure for InterPro Entry P07954

    ProtoNet protein and cluster: P07954

    2 Blocks protein domains:
    IPB000362 Fumarate lyase
    IPB003031 Delta crystallin signature


    UniProtKB/Swiss-Prot: FUMH_HUMAN, P07954
    Similarity: Belongs to the class-II fumarase/aspartase family. Fumarase subfamily


    Find genes that share domains with FH           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FUMH_HUMAN, P07954
    Function: Also acts as a tumor suppressor
    Catalytic 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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004333fumarate hydratase activity EXP--
    GO:0016829lyase activity ----
         
    Find genes that share ontologies with FH           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for FH:
     Increased cell death in breast  Upregulation of Wnt/beta-caten 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Fh1):
     cellular  homeostasis/metabolism  mortality/aging  renal/urinary system 

    Find genes that share phenotypes with FH           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Fh1tm1.1Pjp for FH

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FH
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FH
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FH

    miRNA
    Products:
        
    miRTarBase miRNAs that target FH:
    hsa-mir-34a-5p (MIRT047393)

    Block miRNA regulation of human, mouse, rat FH using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate FH
    SwitchGear 3'UTR luciferase reporter plasmidFH 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for FH
    Predesigned siRNA for gene silencing in human, mouse, rat FH

    Gene Editing
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    Clone
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    OriGene ORF clones in 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)
    Sino Biological Human cDNA Clone for FH
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FH

    Cell Line
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    In Situ Assay
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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12368) for FH 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FUMH_HUMAN, P07954: Isoform Mitochondrial: Mitochondrion
    FUMH_HUMAN, P07954: Isoform Cytoplasmic: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol4
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS8200987
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix TAS--
    GO:0045239tricarboxylic acid cycle enzyme complex IEA--
    GO:0070062extracellular vesicular exosome IDA--

    Find genes that share ontologies with FH           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for FH About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Citric acid cycle (TCA cycle)
    Citric acid cycle (TCA cycle)0.55
    conversion of glucose to acetyl CoA and entry into the TCA cycle0.43
    Citrate cycle (TCA cycle)0.55
    TCA Cycle0.00
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    TCA cycle0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.71
    4Carbon metabolism
    Carbon metabolism0.38
    5Renal cell carcinoma
    Renal cell carcinoma


    Find genes that share SuperPaths with FH           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for FH
        Glucose / Energy Metabolism

    3 BioSystems Pathways for FH
        TCA Cycle
    TCA cycle
    conversion of glucose to acetyl CoA and entry into the TCA cycle


    1 Reactome Pathway for FH
        Citric acid cycle (TCA cycle)


    5 Kegg Pathways  (Kegg details for FH):
        Citrate cycle (TCA cycle)
    Metabolic pathways
    Carbon metabolism
    Pathways in cancer
    Renal cell carcinoma

    UniProtKB/Swiss-Prot: FUMH_HUMAN, P07954
    Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; (S)-malate from fumarate: step 1/1

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FH: 

              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for FH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for FH (P079543 ENSP000003555184) via UniProtKB, MINT, STRING, and/or I2D (see all 125)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SOD2P041793, ENSP000003371274I2D: score=2 STRING: ENSP00000337127
    ADSLP305663, ENSP000002161944I2D: score=1 STRING: ENSP00000216194
    ATP5A1P257053, ENSP000002820504I2D: score=1 STRING: ENSP00000282050
    IDH1O758743, ENSP000002609854I2D: score=1 STRING: ENSP00000260985
    MAPRE1Q156913, ENSP000003647214I2D: score=1 STRING: ENSP00000364721
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006099tricarboxylic acid cycle TAS--
    GO:0006106fumarate metabolic process IEA--
    GO:0044237cellular metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0048873homeostasis of number of cells within a tissue IEA--

    Find genes that share ontologies with FH           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FH (FUMH)

    4 HMDB Compounds for FH    About this table
    CompoundSynonyms CAS #PubMed Ids
    Fumaric acid(2E)-But-2-enedioate (see all 22)110-17-8--
    L-Malic acid(-)-(S)-Malate (see all 27)97-67-6--
    Malic acid2-Hydroxybutanedioic acid (see all 24)6915-15-7--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Selected Novoseek inferred 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)



    Find genes that share compounds with FH           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for FH gene: 
    NM_000143.3  

    Unigene Cluster for FH:

    Fumarate hydratase
    Hs.592490  [show with all ESTs]
    Unigene Representative Sequence: NM_000143
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366560(uc001hyx.3) ENST00000497042 ENST00000493477
    miRNA
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    Flow Cytometry
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    Additional mRNA sequence: 

    AK312415.1 BC003108.1 BC017444.1 BT009839.1 M15502.1 U48857.1 U59309.1 

    10 DOTS entries:

    DT.455566  DT.100663120  DT.100663118  DT.95257355  DT.455565  DT.121381685  DT.100663122  DT.100044892 
    DT.121381680  DT.40289270 

    Selected AceView cDNA sequences (see all 419):

    BQ641524 BQ675964 BQ051487 CB148641 BU160914 BQ883604 AU120732 BQ647171 
    CD365425 CK904962 BU850293 BU859633 BU196495 AA995089 BQ645313 AW157302 
    BQ059822 AA349354 BU553543 CB154327 AI140963 BU839325 NM_000143 BE251332 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATAAAATTT
    FH Expression
    About this image


    FH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Ovary (Reproductive System)
             Oviduct
    FH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.592490

    UniProtKB/Swiss-Prot: FUMH_HUMAN, P07954
    Tissue specificity: Expressed in red blood cells; underexpressed in red blood cells (cytoplasm) of patients with
    hereditary non-spherocytic hemolytic anemia of unknown etiology

        Pathway & Disease-focused RT2 Profiler PCR Arrays including FH: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for FH
    OriGene qSTAR qPCR primer pairs in human, mouse for FH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FH
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    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 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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for FH gene from Selected species (see all 29)    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 78.37(n)
    85.6(a)
      420969  NM_001006382.1  NP_001006382.1 
    lizard
    (Anolis carolinensis)
    Reptilia FH6
    fumarate hydratase
    91(a)
    1 ↔ 1
    6(56606331-56775450)
    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
    65.6(n)1
    77.09(a)1
      6C53
    316051  NM_132111.21  NP_572339.11 
    worm
    (Caenorhabditis elegans)
    Secernentea fum-11 fum-1 67.25(n)
    76.36(a)
      176059  NM_066241.7  NP_498642.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FUM1(YPL262W)4
    FUM11
    Fumarase, converts fumaric acid to L-malic acid in more4
    FUM11
    61.33(n)1
    67.16(a)1
      16(47336-48802)4
    8558661, 4  NP_015061.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons FUM21 FUM2 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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FH gene

    Find genes that share paralogs with FH           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for FH
    PGOHUM00000248575 PGOHUM00000251301


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FH (see all 627)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0134974
    Hereditary leiomyomatosis and renal cell cancer (HLRCC)4--see VAR_0134972 N T mis40--------
    VAR_0024454
    Hereditary leiomyomatosis and renal cell cancer (HLRCC)4--see VAR_0024452 K R mis40--------
    VAR_0135024
    Hereditary leiomyomatosis and renal cell cancer (HLRCC)4--see VAR_0135022 G V mis40--------
    rs289330691,2,4
    Hereditary leiomyomatosis and renal cell cancer (HLRCC)4--see VAR_0135012 mis40--------
    VAR_0024464
    Fumarase deficiency (FHD)4--see VAR_0024462 A T mis40--------
    VAR_0024474
    Fumarase deficiency (FHD)4--see VAR_0024472 F C mis40--------
    VAR_0024484
    Fumarase deficiency (FHD)4--see VAR_0024482 D V mis40--------
    VAR_0135004
    Hereditary leiomyomatosis and renal cell cancer (HLRCC)4--see VAR_0135002 Q R mis40--------
    VAR_0134984
    Hereditary leiomyomatosis and renal cell cancer (HLRCC)4--see VAR_0134982 A P mis40--------
    VAR_0135034
    Hereditary leiomyomatosis and renal cell cancer (HLRCC)4--see VAR_0135032 M R mis40--------

    HapMap Linkage Disequilibrium report for FH (241660857 - 241683085 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for FH:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv873368CNV Gain21882294
    nsv873371CNV Gain21882294

    Human Gene Mutation Database (HGMD): FH
    Locus Specific Mutation Databases (LSDB): FH

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FH
    DNA2.0 Custom Variant and Variant Library Synthesis for FH

    (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.)
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    OMIM gene information: 136850   
    OMIM disorders: 606812  150800  
    UniProtKB/Swiss-Prot: FUMH_HUMAN, P07954
  • Fumarase deficiency (FHD) [MIM:606812]: Characterized by progressive encephalopathy, developmental delay,
    hypotonia, cerebral atrophy and lactic and pyruvic acidemia. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • Hereditary leiomyomatosis and renal cell cancer (HLRCC) [MIM:150800]: A disorder characterized by
    predisposition to cutaneous and uterine leiomyomas, and papillary type 2 renal cancer which occurs in about 20%
    of patients. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for FH (see all 21):    
    About MalaCards
    cutaneous leiomyosarcoma    myoma    hereditary leiomyomatosis and renal cell cancer    fumarate hydratase deficiency
    gastric leiomyoma    multiple cutaneous and uterine leiomyomas    mediastinitis    familial hypercholesterolemia
    leiomyomatosis    ldl cholesterol level qtl2    cystadenoma    leiomyosarcoma
    uterine fibroid    papillary renal cell carcinoma    leiomyoma    paragangliomas 5
    familial renal cell carcinoma    renal clear cell carcinoma    kidney cancer    polyhydramnios

    4 diseases from the University of Copenhagen DISEASES database for FH:
    Leiomyoma     Renal cell carcinoma     Leiomyosarcoma     Uterine fibroid

    Find genes that share disorders with FH           About GenesLikeMe

    Selected Novoseek inferred 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
    GeneReviews: FH
    Genetic Association Database (GAD): FH
    Human Genome Epidemiology (HuGE) Navigator: FH (614 documents)

    Export disorders for FH gene to outside databases

    (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)
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    PubMed articles for FH gene, integrated from 10 sources (see all 217):
    (articles sorted by number of sources associating them with FH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Am. J. Hum. Genet. 2003)
    2. Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer. (PubMed id 19075141)1, 4, 9 Stewart L....Toro J.R. (Arch Dermatol 2008)
    3. Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata. (PubMed id 14632190)1, 4, 9 Martinez-Mir A....Zlotogorski A. (J. Invest. Dermatol. 2003)
    4. Molecular analysis and prenatal diagnosis of human fumarase deficiency. (PubMed id 9635293)1, 2, 9 Coughlin E.M.... Shih V.E. (Mol. Genet. Metab. 1998)
    5. Germline SDHB mutations and familial renal cell carcinoma. (PubMed id 18728283)1, 4, 9 Ricketts C....Maher E.R. (J. Natl. Cancer Inst. 2008)
    6. 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. (Nat. Genet. 2002)
    7. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    8. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    9. Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis. (PubMed id 19626040)1, 4 McCauley J.L....Haines J.L. (Genes Immun. 2009)
    10. Polymorphisms in mitochondrial genes and prostate cancer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (amp 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2271 HGNC: 3700 AceView: FH Ensembl:ENSG00000091483 euGenes: HUgn2271
    ECgene: FH Kegg: 2271 H-InvDB: FH

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    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 Databasehttp://chromium.liacs.nl/LOVD2/SDH/home.php?select_db=FH
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=FH[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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