Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2235
Gene name Gene Name - the full gene name approved by the HGNC.
Ferrochelatase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FECH
Synonyms (NCBI Gene) Gene synonyms aliases
EPP, EPP1, FCE
Disease Acronyms (UniProt) Disease acronyms from UniProt database
EPP1
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q21.31
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004325 Function Ferrochelatase activity IBA 21873635
GO:0004325 Function Ferrochelatase activity IDA 8973195, 15123683, 27599036
GO:0005515 Function Protein binding IPI 15123683, 27599036
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005743 Component Mitochondrial inner membrane ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612386 3647 ENSG00000066926
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia, Hemolytic, Iron-Refractory Iron Deficiency Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Cholelithiasis Cholelithiasis rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Liver failure Liver Failure rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116
View all (10 more)
Protoporphyria, erythropoietic PROTOPORPHYRIA, ERYTHROPOIETIC, 1 rs118204039, rs786205245, rs202147607, rs118204040, rs149067146, rs786205246, rs879255507, rs764466739, rs786205247, rs786205248, rs397514476, rs370708663, rs150146721, rs1555412542, rs765518889
View all (3 more)
15286165, 9740232, 28093505, 12601550, 9649563, 18787536, 10942404, 8757534, 27604308, 12063482, 28614581, 11375302, 23364466, 1755842, 9585598
View all (6 more)
Unknown
Disease term Disease name Evidence References Source
Cirrhosis Cirrhosis 10464147 ClinVar
Erythropoietic protoporphyria Erythropoietic Protoporphyria, Autosomal erythropoietic protoporphyria 15284838, 15793285, 12950064, 10464147, 29906468, 17600043 ClinVar
Associations from Text Mining
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