Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FH Gene

protein-coding   GIFtS: 68
GCID: GC01M241660

Fumarate Hydratase

  See 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)
About This Section

Aliases
Fumarate Hydratase1 2     MCUL12
EC 4.2.1.23 8     fumarase2
HLRCC2     Fumarate Hydratase, Mitochondrial2
LRCC2     Fumarase3
MCL2     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 hereditary leiomyomatosis and renal cell cancer, and fumarate hydratase deficiency, and among its related super-pathways are Citric acid cycle (TCA cycle) and Metabolic pathways.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  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

SwitchGear Promoter luciferase reporter plasmidFH promoter sequence
   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: 1q42.1

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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P07954

  • 4/38 DME Specific Peptides for FH (P07954) (see all 38)
     AKIAKTA  ELNVFKP  SGPRSGL  PLTLGQE 

    FH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FH Protein Expression
    REFSEQ proteins: NP_000134.2  
    ENSEMBL proteins: 
     ENSP00000355518  
    Reactome Protein details: P07954
    Human Recombinant Protein Products for FH: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for FH
    OriGene Protein Over-expression Lysate for FH
    OriGene MassSpec for FH 
    OriGene Custom Protein Services for FH
    GenScript Custom Purified and Recombinant Proteins Services for FH
    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. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    FH for ontologies           About GeneDecksing



    FH Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for FH 
    OriGene Antibodies for FH
    OriGene Custom Antibody Services for FH
    GenScript Superior Antibodies for FH
    Novus Biologicals FH Antibodies
    Abcam antibodies for FH
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibody for FH
    LSBio Antibodies in human, mouse, rat for FH 

    Assay Products for FH: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for FH
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for FH
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR022761 Fumarate_lyase_N
     IPR020557 Fumarate_lyase_CS
     IPR008948 L-Aspartase-like
     IPR000362 Fumarate_lyase
     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


    FH for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004333fumarate hydratase activity EXP--
    GO:0016829lyase activity ----
         
    FH for ontologies           About GeneDecksing


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

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

    FH for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FH
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate FH
    SwitchGear 3'UTR luciferase reporter plasmidFH 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FH

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for FH
    Sirion Biotech Customized adenovirus for overexpression of FH

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for FH (see all 7)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of FH 
                         Customized lentivirus expression plasmids for stable overexpression of FH 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for FH
    Search LifeMap BioReagents cell lines for FH
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FH


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FH About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Citric acid cycle (TCA cycle)
    Citric acid cycle (TCA cycle)0.89
    TCA cycle0.84
    TCA Cycle0.89
    Citrate cycle (TCA cycle)0.58
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport0.72
    4Pyruvate metabolism
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    5Glycolysis and gluconeogenesis (short map)
    Conversion of glucose to acetyl CoA and entry into the TCA cycle0.46

    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


    4        Reactome Pathways for FH
        Pyruvate metabolism and Citric Acid (TCA) cycle
    Metabolism
    Citric acid cycle (TCA cycle)
    The citric acid (TCA) cycle and respiratory electron transport


    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


    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)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SOD2P041793, ENSP000003371274I2D: score=2 STRING: ENSP00000337127
    ADSLP305663, ENSP000002161944I2D: score=1 STRING: ENSP00000216194
    ATP5A1P257053, ENSP000002820504I2D: score=1 STRING: ENSP00000282050
    COQ2Q96H963, ENSP000004092754I2D: score=1 STRING: ENSP00000409275
    HMBSP083973, ENSP000002787154I2D: score=1 STRING: ENSP00000278715
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    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--

    FH for ontologies           About GeneDecksing



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

    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--

    10/30 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)

    Search CenterWatch for drugs/clinical trials and news about FH / FUMH

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, 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_000143
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366560(uc001hyx.3) ENST00000497042 ENST00000493477
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FH
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate FH
    SwitchGear 3'UTR luciferase reporter plasmidFH 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FH
    Clone
    Products:
         
    OriGene clones in human, mouse for FH (see all 7)
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FH
    Sirion Biotech Customized lentivirus for stable overexpression of FH 
                         Customized lentivirus expression plasmids for stable overexpression of FH 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for FH
    OriGene qSTAR qPCR primer pairs in human, mouse for FH
    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

    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 

    24/419 AceView cDNA sequences (see all 419):

    BF969394 CB148641 BU850135 BQ888432 BQ723472 CD236780 CA449231 AI339465 
    BU625528 BM550433 BC003108 BU623117 BE254062 BM127077 BU932098 BE263715 
    CR590170 BM423547 BE251332 BU190257 BU196495 BU619917 BM556742 BU173694 

    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™, 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)      FH embryonic expression: see
    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 
     5/35 selected tissues (see all 35) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             brain/midbrain   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Epithelium (Reproductive System)    fully expand to see all 4 entries
             cervix, uterine ; squamous epithelial cells   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart muscle ; myocytes   
             heart/atrium   

    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, 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

        SABiosciences Expression via Pathway-Focused PCR Arrays including FH: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for FH
    OriGene qSTAR qPCR primer pairs in human, mouse for FH
    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 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 common ancestor of eukaryotes.

    Orthologs for FH gene from 10/29 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 79.24(n)
    87.62(a)
      420969  NM_001006382.1  NP_001006382.1 
    lizard
    (Anolis carolinensis)
    Reptilia FH6
    Uncharacterized protein
    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
    65.67(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 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


    (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) 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

    10/627 SNPs in FH are shown (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--------
    VAR_0135014
    Hereditary leiomyomatosis and renal cell cancer (HLRCC)4--see VAR_0135012 R H 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 136850   
    OMIM disorders: 606812  150800  605839  
    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

  • 20/52 diseases for FH (see all 52):    About MalaCards
    hereditary leiomyomatosis and renal cell cancer    fumarate hydratase deficiency    uterine fibroid    multiple cutaneous and uterine leiomyomas
    gastric leiomyoma    mucinous ovarian cystadenoma    ovarian cystadenoma    leiomyomatosis
    cutaneous leiomyosarcoma    myoma    leiomyoma    kidney cancer
    leiomyosarcoma    familial renal cell carcinoma    cystadenoma    renal clear cell carcinoma
    cerebral atrophy    paraganglioma    polyhydramnios    cutaneous leishmaniasis

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

    FH for disorders           About GeneDecksing

    10/30 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)
    About This Section

    PubMed articles for FH gene, integrated from 9 sources (see all 212):
    (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. (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. (2008)
    3. 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)
    4. Molecular analysis and prenatal diagnosis of human fumarase deficiency. (PubMed id 9635293)1, 2, 9 Coughlin E.M.... Shih V.E. (1998)
    5. Germline SDHB mutations and familial renal cell carcinoma. (PubMed id 18728283)1, 4, 9 Ricketts C....Maher E.R. (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. (2002)
    7. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (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. (2010)
    9. Follow-up examination of linkage and association to c hromosome 1q43 in multiple sclerosis. (PubMed id 19626040)1, 4 McCauley J.L....Haines J.L. (2009)
    10. Polymorphisms in mitochondrial genes and prostate can cer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2271 HGNC: 3700 AceView: FH Ensembl:ENSG00000091483 euGenes: HUgn2271
    ECgene: FH Kegg: 2271 H-InvDB: FH

    (According to HUGE)
    About This Section
      --

    (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
    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/sites/GeneTests/lab/gene/FH

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



    (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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for FH   OriGene RNAi products in human, mouse, rat for FH  
     OriGene qPCR primer pairs and template standards for FH   OriGene Protein Over-expression Lysate for FH  
     OriGene MassSpec something-or-other for FH   OriGene clones in human, mouse for FH  
     OriGene qSTAR qPCR primer pairs in human, mouse for FH   OriGene Purified Protein for FH  
     OriGene ORF clones in mouse, rat 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  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FH
     QIAGEN SeqTarget long-range PCR primers 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
     GenScript Custom Purified and Recombinant Proteins Services for FH GenScript cDNA clones with any tag delivered in your preferred vector for FH
     GenScript Custom Assay Services for FH GenScript Superior Antibodies for FH
     GenScript Custom overexpressing Cell Line Services for FH CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Antibodies & Assays for FH 

     Regulatory tfbs in FH promoter
     Search Chromatin IP Primers for FH
     RT2 qPCR Primer Assay in human, mouse, rat FH
     GNC Network for FH
     SABiosciences PCR Arrays including human, mouse, rat FH
     Search Tocris compounds for FH (FUMH)
     Proteins and Antibodies for FH
     Browse Sino Biological Cell Lysates
     cDNA Clones for FH
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     FH antibodies
     FH proteins
     FH lysates
     Antibodies for FH
     See all of Abcam's Antibodies, Kits and Proteins for FH
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for FH




     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for FH
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FH
     SwitchGear 3'UTR luciferase reporter plasmids for FH
     SwitchGear Promoter luciferase reporter plasmids for FH
     ThermoFisher Antibody for FH
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FH
     inGenious Targeting Laboratory - Custom generated mouse model solutions for FH
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FH
    Customized:
     lentivirus for stable overexpression of FH
     lentivirus expression plasmids for stable overexpression of FH
     adenovirus for overexpression of FH
     LSBio Antibodies in human, mouse, rat for FH
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      FH gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4