HCCS


Summary: The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:300056
PHARMGKB IDPA29214
Map LocationXp22.2

GO terms in HCCS


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Term Type
Evidence Type
GO Term ID
GO Des.
BP TAS GO:0009887 animal organ morphogenesis
BP IBA GO:0018063 cytochrome c-heme linkage
BP TAS GO:0055114 oxidation-reduction process
CC IBA GO:0005739 mitochondrion
CC IDA GO:0005739 mitochondrion
CC IEA GO:0005743 mitochondrial inner membrane
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Gene expression in normal tissue: HCCS

16 tissues mixtureadiposeadrenalbrainbreastcolonheartkidneyliverlunglymph nodeovaryprostateskeletal muscletestesthyroidwhite blood cells

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 1

Gene-drug pathway distribution

ABL signaling1

Pathways in HCCS


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Database
Pathway ID
Pathway Des.
kegg hsa00860 Porphyrin and chlorophyll metabolism - Homo sapiens (human)
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD190 Nilotinib 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in HCCS

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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