Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
2235 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Ferrochelatase |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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FECH |
SynonymsGene synonyms aliases
|
EPP, EPP1, FCE |
ChromosomeChromosome number
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18 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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18q21.31 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
rs149067146 |
A>C |
Pathogenic |
Splice donor variant |
rs150146721 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs202147607 |
T>C |
Pathogenic |
Intron variant |
rs267606803 |
A>T |
Pathogenic |
Missense variant, coding sequence variant |
rs267606804 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs370708663 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs397514476 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs764466739 |
T>- |
Pathogenic |
Frameshift variant, intron variant, coding sequence variant |
rs765069812 |
G>A |
Likely-pathogenic |
Intron variant |
rs765518889 |
C>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs786205245 |
C>A,T |
Pathogenic |
Splice donor variant |
rs786205246 |
T>G |
Pathogenic |
Intron variant |
rs786205247 |
T>C |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
rs786205248 |
ACTGT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs879255507 |
T>A |
Pathogenic |
Coding sequence variant, stop gained, intron variant |
rs1598996309 |
C>A |
Pathogenic |
Splice donor variant |
rs1599003455 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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.
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Associated diseases
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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 |
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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 |
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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 |
Ferrochelatase deficiency |
Ferrochelatase deficiency |
|
29906468, 17600043, 15793285, 10464147, 15284838, 12950064 |
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