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 |
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 |
|
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
|
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, 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 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, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682 View all (10 more) |
|
Protoporphyria, erythropoietic |
PROTOPORPHYRIA, ERYTHROPOIETIC, 1 |
rs118204039, rs786205245, rs202147607, rs118204040, rs149067146, rs786205246, rs879255507, rs764466739, rs786205247, rs786205248, rs397514476, rs370708663, rs150146721, rs1555412542, rs765518889, rs146269992, rs1598996309, rs1599003455 View all (3 more) |
15286165, 9740232, 28093505, 12601550, 9649563, 18787536, 10942404, 8757534, 27604308, 12063482, 28614581, 11375302, 23364466, 1755842, 9585598, 1376018, 7910885, 17196862, 19298273, 16385445, 9211198 View all (6 more) |
|
|
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 |
Liver Diseases |
Associate
|
29116687 |
Liver Failure |
Associate
|
10942404, 30809087 |
Myelodysplastic Syndromes |
Associate
|
11886534 |
Neoplasms |
Inhibit
|
30767226 |
Neoplasms |
Associate
|
35697292, 38138609 |
Neoplastic Syndromes Hereditary |
Associate
|
11886517 |
Pituitary Neoplasms |
Associate
|
34686726 |
Porphyria Erythropoietic |
Associate
|
11886534 |
Prostatic Neoplasms |
Associate
|
31295943 |
Protoporphyria Erythropoietic |
Associate
|
10068685, 10417624, 10942404, 11886517, 11886534, 1376018, 15831704, 15850836, 1729699, 19693296, 20412370, 22766189, 23364466, 24680888, 26789144, 28614581, 29116687, 30175727, 30391163, 30809087, 31273344, 32873934, 33021473, 34581821, 34798346, 3940245, 7252240, 7541650, 8151124, 8571955, 8601739, 8781532, 9347801, 9573038, 9649563, 9740232 View all (21 more) |
Protoporphyria Erythropoietic |
Inhibit
|
16150949, 33275677, 36898083 |
Pruritus |
Associate
|
26789144 |
Sarcoma |
Associate
|
38316340 |
Spinocerebellar Ataxias |
Associate
|
30175727 |
Venous Thromboembolism |
Associate
|
34861826 |
|