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FECH (ferrochelatase)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2235
Gene nameGene Name - the full gene name approved by the HGNC.
Ferrochelatase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
FECH
SynonymsGene synonyms aliases
EPP, EPP1, FCE
ChromosomeChromosome number
18
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q21.31
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Porphyrin metabolism
Metabolic pathways
Biosynthesis of cofactors
  Heme biosynthesis
Associated diseases
Causal
Disease name Disease term 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, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
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, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Protoporphyria, erythropoietic PROTOPORPHYRIA, ERYTHROPOIETIC, 1 rs118204039, rs786205245, rs202147607, rs118204040, rs149067146, rs786205246, rs879255507, rs764466739, rs786205247, rs786205248, rs397514476, rs370708663, rs150146721, rs1555412542, rs765518889, rs146269992, rs1598996309, rs1599003455 15286165, 9740232, 28093505, 12601550, 9649563, 18787536, 10942404, 8757534, 27604308, 12063482, 28614581, 11375302, 23364466, 1755842, 9585598, 1376018, 7910885, 17196862, 19298273, 16385445, 9211198
Unknown
Disease name Disease term dbSNP ID References
Bile duct diseases Bile Duct Diseases 10464147
Cirrhosis Cirrhosis rs119465999, rs144369314, rs8056684, rs112053857, rs75998507 10464147
Eczema Eczema
Erythropoietic protoporphyria Erythropoietic Protoporphyria, Autosomal erythropoietic protoporphyria rs2272783 15284838, 15793285, 12950064, 10464147, 29906468, 17600043

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