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

FECH Gene

protein-coding   GIFtS: 68
GCID: GC18M055191

Ferrochelatase

(Previous name: ferrochelatase (protoporphyria))
Microbiology & Infectious Diseases Congress
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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
ferrochelatase1 2     FCE2 5
protoporphyria1 2     Ferrochelatase (Protoporphyria)1
Heme Synthase2 3     EPP2
Protoheme Ferro-Lyase2 3     Ferrochelatase, Mitochondrial2
EC 4.99.1.13 8     Heme Synthetase2

External Ids:    HGNC: 36471   Entrez Gene: 22352   Ensembl: ENSG000000669267   OMIM: 6123865   UniProtKB: P228303   

Export aliases for FECH gene to outside databases

Previous GC identifers: GC18P055578 GC18M055001 GC18M053365 GC18M053367 GC18M051922


(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 FECH Gene:
The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the
ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated
with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this
gene. A pseudogene of this gene is found on chromosome 3.(provided by RefSeq, May 2010)

GeneCards Summary for FECH Gene: 
FECH (ferrochelatase) is a protein-coding gene. Diseases associated with FECH include erythropoietic protoporphyria, and erythropoietic protoporphyria, autosomal recessive, and among its related super-pathways are Heme biosynthesis and Metabolic pathways. GO annotations related to this gene include ferrous iron binding and heme binding.

UniProtKB/Swiss-Prot: HEMH_HUMAN, P22830
Function: Catalyzes the ferrous insertion into protoporphyrin IX

Gene Wiki entry for FECH (Ferrochelatase) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NT_025028.14  NC_018929.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FECH gene promoter:
         HOXA3   Brachyury   HNF-1A   C/EBPalpha   Max   HNF-1   AP-2beta   AP-2alpha   c-Myc   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFECH promoter sequence
   Search SABiosciences Chromatin IP Primers for FECH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FECH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q21.3   Ensembl cytogenetic band:  18q21.31   HGNC cytogenetic band: 18q21.2-q21.3

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

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M055191:  view genomic region     (about GC identifiers)

Start:
55,212,073 bp from pter      End:
55,254,004 bp from pter
Size:
41,932 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: HEMH_HUMAN, P22830 (See protein sequence)
Recommended Name: Ferrochelatase, mitochondrial precursor  
Size: 423 amino acids; 47862 Da
Cofactor: Binds 1 2Fe-2S cluster
Subunit: Homodimer
Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
6/18 PDB 3D structures from and Proteopedia for FECH (see all 18):
1HRK (3D)        2HRC (3D)        2HRE (3D)        2PNJ (3D)        2PO5 (3D)        2PO7 (3D)    
Secondary accessions: A8KA72 Q8IXN1 Q8NAN0
Alternative splicing: 2 isoforms:  P22830-1   P22830-2   

Explore the universe of human proteins at neXtProt for FECH: NX_P22830

Explore proteomics data for FECH at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P22830

  • 4/9 DME Specific Peptides for FECH (P22830) (see all 9)
     SDHIETL  FSAHSLP  FLLRLFLD  GDPYPQEV 

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

    FECH Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000131.2  NP_001012533.1  

    ENSEMBL proteins: 
     ENSP00000262093   ENSP00000372326   ENSP00000465243   ENSP00000465363   ENSP00000466263  
     ENSP00000467461   ENSP00000465717  
    Reactome Protein details: P22830
    Human Recombinant Protein Products for FECH: 
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    Novus Biologicals FECH Proteins
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FECH 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005759mitochondrial matrix TAS--

    FECH for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for FECH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR001015 Ferrochelatase
     IPR019772 Ferrochelatase_AS

    Graphical View of Domain Structure for InterPro Entry P22830

    ProtoNet protein and cluster: P22830

    1 Blocks protein domain: IPB001015 Ferrochelatase

    UniProtKB/Swiss-Prot: HEMH_HUMAN, P22830
    Similarity: Belongs to the ferrochelatase family


    FECH 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: HEMH_HUMAN, P22830
    Function: Catalyzes the ferrous insertion into protoporphyrin IX
    Catalytic activity: Protoheme + 2 H(+) = protoporphyrin + Fe(2+)
    Enzyme regulation: Inhibited by nitric oxide (NO). The 2Fe-2S cluster could act as a NO sensor

         Genatlas biochemistry entry for FECH:
    ferrochelatase,inner mitochondrial membrane,catalyzing heme formation,from protoporphyrin

         Enzyme Number (IUBMB): EC 4.99.1.11 2

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004325ferrochelatase activity TAS--
    GO:0005506iron ion binding ----
    GO:0005515protein binding IPI15123683
    GO:0008198ferrous iron binding TAS1729699
    GO:0020037heme binding IEA--
         
    FECH for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FECH:
     Increased gamma-H2AX phosphory 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Fech):
     adipose tissue  behavior/neurological  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  integument  liver/biliary system  mortality/aging  reproductive system 

    FECH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Fechtm1Dab for FECH

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FECH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FECH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FECH 
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    hsa-miR-140-5p hsa-miR-4307 hsa-miR-3194-5p hsa-miR-607 hsa-miR-578 hsa-miR-374a hsa-miR-105 hsa-miR-183*
    SwitchGear 3'UTR luciferase reporter plasmidFECH 3' UTR sequence
    Inhib. RNA
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    (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 FECH About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Heme Biosynthesis
    Heme Biosynthesis0.82
    Metabolism of porphyrins0.69
    Heme biosynthesis0.82
    heme biosynthesis from uroporphyrinogen-III I0.43
    superpathway of heme biosynthesis from glycine0.78
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Glucuronidation
    Porphyrin and chlorophyll metabolism0.38
    4HIF-1-alpha transcription factor network
    HIF-1-alpha transcription factor network

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for FECH
        Heme Biosynthesis
    HIF-1-alpha transcription factor network
    heme biosynthesis from uroporphyrinogen-III I
    superpathway of heme biosynthesis from glycine

    3        Reactome Pathways for FECH
        Metabolism of porphyrins
    Heme biosynthesis
    Metabolism


    2         Kegg Pathways  (Kegg details for FECH):
        Porphyrin and chlorophyll metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: HEMH_HUMAN, P22830
    Pathway: Porphyrin-containing compound metabolism; protoheme biosynthesis; protoheme from protoporphyrin-IX: step
    1/1


    FECH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FECH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/68 Interacting proteins for FECH (P228303 ENSP000003723264) via UniProtKB, MINT, STRING, and/or I2D (see all 68)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006091generation of precursor metabolites and energy TAS1729699
    GO:0006778porphyrin-containing compound metabolic process TAS--
    GO:0006779porphyrin-containing compound biosynthetic process ----
    GO:0006783heme biosynthetic process TAS--
    GO:0008203cholesterol metabolic process IEA--

    FECH 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

    FECH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FECH (HEMH)

    3 HMDB Compounds for FECH    About this table
    CompoundSynonyms CAS #PubMed Ids
    Formyl-CoAFormyl coenzyme A 13131-49-2--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Protoporphyrin IX3,3'-(3,7,12,17-tetramethyl-8,13-divinyl-21H,23H-porphine-2,18-diyl)-bis-propionate (see all 11)553-12-8--

    1 DrugBank Compound for FECH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Cholic Acid-- 81-25-4target--17139284 17016423 10592235

    10/36 Novoseek inferred chemical compound relationships for FECH gene (see all 36)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    protoporphyrin ix 96.2 166 16288996 (6), 17875605 (4), 16150949 (3), 19850353 (3) (see all 99)
    n-methylmesoporphyrin 90.3 10 10704318 (2), 19597542 (1), 17261801 (1), 16833362 (1) (see all 5)
    ppix 86.9 27 17875605 (3), 8795569 (2), 19955842 (2), 18613640 (1) (see all 13)
    haem 86.6 67 7918587 (3), 19251765 (3), 16614385 (3), 2310162 (1) (see all 33)
    mesoporphyrin 85.7 2 9989256 (1), 7947988 (1)
    porphyrin 85.2 40 12589563 (3), 12668611 (2), 8337255 (2), 10704318 (2) (see all 25)
    5-aminolevulinic acid 84.8 48 16288996 (4), 10215191 (2), 7575558 (2), 19735078 (2) (see all 22)
    protoporphyrinogen 83.4 8 8948097 (2), 1939451 (2), 9250538 (1), 12699245 (1)
    porphobilinogen 78.8 15 10207080 (1), 9744510 (1), 12699249 (1), 16125296 (1) (see all 13)
    n-methylprotoporphyrin 71.7 3 10725301 (2), 12417755 (1)

    Search CenterWatch for drugs/clinical trials and news about FECH / HEMH

    (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 FECH gene (2 alternative transcripts): 
    NM_000140.3  NM_001012515.2  

    Unigene Cluster for FECH:

    Ferrochelatase
    Hs.365365  [show with all ESTs]
    Unigene Representative Sequence: NM_001012515
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262093(uc002lgp.4 uc002lgq.4 uc002lgr.4) ENST00000382873
    ENST00000585494 ENST00000591977 ENST00000592699 ENST00000585699 ENST00000591215
    ENST00000585747 ENST00000585878 ENST00000592111
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate FECH (see all 36):
    hsa-miR-140-5p hsa-miR-4307 hsa-miR-3194-5p hsa-miR-607 hsa-miR-578 hsa-miR-374a hsa-miR-105 hsa-miR-183*
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    Additional mRNA sequence: 

    AK092416.1 AK223190.1 AK292937.1 AK299643.1 BC039841.1 BT019958.1 BT019959.1 BX571744.1 
    D00726.1 

    14 DOTS entries:

    DT.448815  DT.99934005  DT.210615  DT.92434354  DT.121091841  DT.100794168  DT.97774315  DT.121091861 
    DT.317890  DT.121091867  DT.95284942  DT.121091881  DT.91803780  DT.95284937 

    24/255 AceView cDNA sequences (see all 255):

    BQ218316 AA243731 BU509615 AA243664 CR605426 AI277629 CB996668 BX477871 
    AL526206 BM827704 BM928671 AI168657 AW052094 BQ185721 AA131551 AW444838 
    BQ215119 BQ651052 AA133973 BQ921038 H54444 BC039841 CR623385 BI861282 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for FECH (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
    SP1:                                -           -     -     -           -                                             
    SP2:                                            -     -     -           -                                             
    SP3:                                -           -     -                 -                                             
    SP4:                                -           -     -     -                                                         
    SP5:                                -                                                                                 


    ECgene alternative splicing isoforms for FECH

    (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

    FECH expression in normal human tissues (normalized intensities)      FECH embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCATTTGTTG
    FECH Expression
    About this image


    FECH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/31 selected tissues (see all 31) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 6 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             monocyte-derived macrophage   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Hippocampus
     
     Epithelium (Reproductive System)    fully expand to see all 3 entries
             cervix, uterine ; squamous epithelial cells   

    See FECH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FECH

    SOURCE GeneReport for Unigene cluster: Hs.365365
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    (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 animals and fungi.

    Orthologs for FECH gene from 7/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fech1 , 5 ferrochelatase1, 5 87.05(n)1
    88.86(a)1
      18 (37.43 cM)5
    141511  NM_007998.61  NP_032024.21 
     644565505 
    chicken
    (Gallus gallus)
    Aves FECH1 ferrochelatase 76.78(n)
    83.83(a)
      374020  NM_204196.1  NP_989527.1 
    lizard
    (Anolis carolinensis)
    Reptilia FECH6
    ferrochelatase
    82(a)
    1 ↔ 1
    GL343213.1(2141622-2170695)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3980142 ferrochelatase 77.74(n)    AF036617.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fech2 ferrochelatase 77.65(n)   58215  AF250368.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ferrochelatase1 , 3 protoporphyrinogen IX biosynthesis
    ferrochelatase3
    CG2098-PA1
    55(a)3
    59.23(n)1
    56.21(a)1
      100D23
    437571  NM_079874.31  NP_524613.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HEM15(YOR176W)4
    HEM151
    Ferrochelatase, a mitochondrial inner membrane protein, more4
    Hem15p1
    55.03(n)1
    52.37(a)1
      15(662401-663582)4
    8543471, 4  NP_014819.31  NP_014819.14 


    ENSEMBL Gene Tree for FECH (if available)
    TreeFam Gene Tree for FECH (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FECH gene
    1 SIMAP similar gene for FECH using alignment to 7 protein entries:     HEMH_HUMAN (see all proteins):
    DKFZp686P18130

    FECH for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for FECH
    PGOHUM00000237991


    (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

    10/1088 SNPs in FECH are shown (see all 1088)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0305594
    Erythropoietic protoporphyria (EPP)4--see VAR_0305592 Y H mis40--------
    VAR_0305614
    Erythropoietic protoporphyria (EPP)4--see VAR_0305612 C Y mis40--------
    VAR_0305604
    Erythropoietic protoporphyria (EPP)4--see VAR_0305602 P T mis40--------
    VAR_0305674
    Erythropoietic protoporphyria (EPP)4--see VAR_0305672 K N mis40--------
    VAR_0305554
    Erythropoietic protoporphyria (EPP)4--see VAR_0305552 Q L mis40--------
    VAR_0023874
    Erythropoietic protoporphyria (EPP)4--see VAR_0023872 F S mis40--------
    VAR_0305544
    Erythropoietic protoporphyria (EPP)4--see VAR_0305542 I K mis40--------
    VAR_0305634
    Erythropoietic protoporphyria (EPP)4--see VAR_0305632 T I mis40--------
    VAR_0305684
    Erythropoietic protoporphyria (EPP)4--see VAR_0305682 C S mis40--------
    VAR_0305534
    Erythropoietic protoporphyria (EPP)4--see VAR_0305532 P R mis40--------

    HapMap Linkage Disequilibrium report for FECH (55212073 - 55254004 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for FECH:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv909664CNV Loss21882294
    esv2751777CNV Gain17911159
    nsv909663CNV Gain21882294
    nsv833663CNV Gain17160897
    nsv458086CNV Gain19166990


    Human Gene Mutation Database (HGMD): FECH
    SABiosciences Cancer Mutation PCR Assays
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    (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: 612386   
    OMIM disorders: 177000  
    UniProtKB/Swiss-Prot: HEMH_HUMAN, P22830
  • Erythropoietic protoporphyria (EPP) [MIM:177000]: A form of porphyria. Porphyrias are inherited defects
    in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin
    precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs
    in red blood cells or in the liver. Erythropoietic protoporphyria is marked by excessive protoporphyrin in
    erythrocytes, plasma, liver and feces, and by widely varying photosensitive skin changes ranging from a burning
    or pruritic sensation to erythema, edema and wheals. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/40 diseases for FECH (see all 40):    About MalaCards
    erythropoietic protoporphyria    erythropoietic protoporphyria, autosomal recessive    protoporphyria, erythropoietic, autosomal dominant    acute porphyria
    hypochromic anemia    cutaneous porphyria    porokeratosis    porphyria
    acute hepatic porphyria    macrocytic anemia    hereditary coproporphyria    congenital erythropoietic porphyria
    porphyria cutanea tarda    variegate porphyria    sideroblastic anemia    refractory anemia
    iron deficiency anemia    alcohol abuse    friedreich ataxia    keratoderma

    5 diseases from the University of Copenhagen DISEASES database for FECH:
    Erythropoietic protoporphyria     Hereditary coproporphyria     Variegate porphyria     Acute intermittent porphyria
    Anemia

    FECH for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/21 Novoseek inferred disease relationships for FECH gene (see all 21)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    protoporphyria erythropoietic 98.5 174 2378891 (5), 12149233 (4), 1783383 (2), 7592569 (2) (see all 99)
    skin photosensitivity 86.9 15 15654982 (2), 10942404 (1), 17298226 (1), 10068685 (1) (see all 11)
    porphyria 82.7 8 16882191 (1), 20105171 (1), 17597821 (1), 12699245 (1)
    porphyria, congenital erythropoietic 82.2 9 10582332 (1), 17297688 (1), 15046047 (1), 18846613 (1) (see all 9)
    porphyria variegate 75.8 1 12699245 (1)
    coproporphyria hereditary 74.9 1 8621830 (1)
    porphyria hepatic 72.8 2 9347226 (1), 16125296 (1)
    porphyria acute intermittent 67.5 1 12699245 (1)
    liver failure 59.6 5 8500787 (1), 10942404 (1), 7648240 (1), 15358105 (1)
    erythroleukemia 59.6 5 10903501 (1), 16288996 (1), 12480705 (1), 19965627 (1) (see all 5)

    Genetic Association Database (GAD): FECH
    Human Genome Epidemiology (HuGE) Navigator: FECH (3 documents)

    Export disorders for FECH 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 FECH gene, integrated from 9 sources (see all 319):
    (articles sorted by number of sources associating them with FECH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mammalian ferrochelatase. Expression and characterization of normal and two human protoporphyric ferrochelatases. (PubMed id 8276824)1, 2, 9 Dailey H.A.... Dailey T.A. (1994)
    2. Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria. (PubMed id 10942404)1, 2, 9 Schneider-Yin X....Ferreira G.C. (2000)
    3. Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria. (PubMed id 9585598)1, 2, 9 Ruefenacht U.B.... Deybach J.-C. (1998)
    4. Evidence that the fourth ligand to the 2Fe-2S cluster in animal ferrochelatase is a cysteine. Characterization of the enzyme from Drosophila melanogaster. (PubMed id 9712849)1, 2, 9 Sellers V.M.... Dailey H.A. (1998)
    5. Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria. (PubMed id 17196862)1, 2, 9 Aurizi C....Biolcati G. (2007)
    6. Substrate interactions with human ferrochelatase. (PubMed id 17261801)1, 2, 9 Medlock A....Lanzilotta W.N. (2007)
    7. Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria. (PubMed id 12601550)1, 2, 9 Wiman A.... Harper P. (2003)
    8. Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria. (PubMed id 9740232)1, 2, 9 Gouya L.... Minder E.I. (1998)
    9. Site-directed mutagenesis and spectroscopic characterization of human ferrochelatase: identification of residues coordinating the [2Fe-2S] cluster. (PubMed id 8973195)1, 2, 9 Crouse B.R.... Johnson M.K. (1996)
    10. Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase. (PubMed id 2260980)1, 2, 9 Nakahashi Y.... Tokunaga R. (1990)

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

      Query String
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    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: 2235 HGNC: 3647 AceView: FECH Ensembl:ENSG00000066926 euGenes: HUgn2235
    ECgene: FECH Kegg: 2235 H-InvDB: FECH

    (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 FECH Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FECH
    Wikipedia http://en.wikipedia.org/wiki/Ferrochelatase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FECH gene:
    Search GeneIP for patents involving FECH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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