Gene Gene information from NCBI Gene database.
Entrez ID 2235
Gene name Ferrochelatase
Gene symbol FECH
Synonyms (NCBI Gene)
EPPEPP1FCE
Chromosome 18
Chromosome location 18q21.31
Summary 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
SNPs SNP information provided by dbSNP.
22
SNP ID Visualize variation Clinical significance Consequence
rs2272783 A>C,G Pathogenic-likely-pathogenic, uncertain-significance Intron variant
rs118204039 A>G Pathogenic Missense variant, coding sequence variant
rs118204040 A>C Pathogenic Missense variant, intron variant, coding sequence variant
rs146269992 C>T Pathogenic Missense variant, coding sequence variant
rs146899669 A>C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
533
miRTarBase ID miRNA Experiments Reference
MIRT022695 hsa-miR-124-3p Microarray 18668037
MIRT051219 hsa-miR-16-5p CLASH 23622248
MIRT050277 hsa-miR-25-3p CLASH 23622248
MIRT036042 hsa-miR-1301-3p CLASH 23622248
MIRT626825 hsa-miR-6812-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
56
GO ID Ontology Definition Evidence Reference
GO:0004325 Function Ferrochelatase activity IBA
GO:0004325 Function Ferrochelatase activity IDA 8973195, 15123683, 27599036
GO:0004325 Function Ferrochelatase activity IEA
GO:0004325 Function Ferrochelatase activity TAS 2260980
GO:0005506 Function Iron ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612386 3647 ENSG00000066926
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P22830
Protein name Ferrochelatase, mitochondrial (EC 4.98.1.1) (Heme synthase) (Protoheme ferro-lyase)
Protein function Catalyzes the ferrous insertion into protoporphyrin IX and participates in the terminal step in the heme biosynthetic pathway.
PDB 1HRK , 2HRC , 2HRE , 2PNJ , 2PO5 , 2PO7 , 2QD1 , 2QD2 , 2QD3 , 2QD4 , 2QD5 , 3AQI , 3HCN , 3HCO , 3HCP , 3HCR , 3W1W , 4F4D , 4KLA , 4KLC , 4KLR , 4KMM , 4MK4 , 7CT7 , 7CTC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00762 Ferrochelatase 68 389 Ferrochelatase Domain
Sequence
Sequence length 423
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Porphyrin metabolism
Metabolic pathways
Biosynthesis of cofactors
  Heme biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
206
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal erythropoietic protoporphyria Pathogenic; Likely pathogenic rs2511517215, rs2051380165 RCV003224833
RCV001195535
FECH-related disorder Pathogenic; Likely pathogenic rs1430926156, rs764466739, rs1223818578, rs2511539097 RCV003399198
RCV004754228
RCV004755002
RCV003911502
Protoporphyria, erythropoietic, 1 Pathogenic; Likely pathogenic rs1430926156, rs2122357230, rs984041251, rs1324421474, rs118204039, rs786205245, rs202147607, rs118204040, rs149067146, rs786205246, rs879255507, rs764466739, rs786205247, rs786205248, rs1171981319
View all (9 more)
RCV003234795
RCV001542796
RCV001783269
RCV002074436
RCV000000581
RCV000000582
RCV000000583
RCV000000584
RCV000000585
RCV000000586
RCV000000587
RCV000000588
RCV000000589
RCV000000590
RCV002472163
RCV003319144
RCV003992642
RCV000332701
RCV000416464
RCV000023941
RCV000761276
RCV000778533
RCV000990108
RCV000990109
See cases Pathogenic rs2050848238 RCV004584560
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs267606803, rs267606804 -
Acute myeloid leukemia Uncertain significance rs113654252 RCV005894754
Cervical cancer Benign; Uncertain significance rs3817726, rs570262703 RCV005920035
RCV005934963
Erythema Conflicting classifications of pathogenicity rs2269219, rs2272783 RCV000415389
RCV000414979
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 30767226
Cockayne Syndrome Associate 34581821
Congenital Disorder Of Glycosylation Type I IIX Associate 23364466
Disease Associate 26789144
Drug Related Side Effects and Adverse Reactions Associate 32737955
Edema Associate 26789144
Genetic Diseases Inborn Associate 10417624, 1376018, 9573038
Glioblastoma Inhibit 21304523
Glioma Associate 21304523
Late Onset Disorders Associate 16150949