Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54205
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome c, somatic
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYCS
Synonyms (NCBI Gene) Gene synonyms aliases
CYC, HCS, THC4
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p15.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a small heme protein that functions as a central component of the electron transport chain in mitochondria. The encoded protein associates with the inner membrane of the mitochondrion where it accepts electrons from cytochrome b and tran
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121918552 C>T Pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs886037737 A>G Pathogenic Missense variant, coding sequence variant
rs1562515878 TTT>- Pathogenic Coding sequence variant, inframe deletion
rs1583394629 G>C Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025976 hsa-miR-148a-3p Sequencing 20371350
MIRT031466 hsa-miR-16-5p Proteomics 18668040
MIRT044075 hsa-miR-361-5p CLASH 23622248
MIRT038787 hsa-miR-93-3p CLASH 23622248
MIRT036158 hsa-miR-320c CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 9267021, 10206961, 25416956, 25595453, 25910212, 28514442, 32296183, 32814053, 33961781
GO:0005634 Component Nucleus HDA 21630459
GO:0005634 Component Nucleus IDA
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
123970 19986 ENSG00000172115
Protein
UniProt ID P99999
Protein name Cytochrome c
Protein function Electron carrier protein. The oxidized form of the cytochrome c heme group can accept an electron from the heme group of the cytochrome c1 subunit of cytochrome reductase. Cytochrome c then transfers this electron to the cytochrome oxidase compl
PDB 1J3S , 2N3Y , 2N9I , 2N9J , 3NWV , 3ZCF , 3ZOO , 5EXQ , 5O10 , 5TY3 , 6DUJ , 6ECJ , 6XNK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00034 Cytochrom_C 4 103 Cytochrome c Domain
Sequence
Sequence length 105
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Oxidative phosphorylation
Metabolic pathways
Platinum drug resistance
p53 signaling pathway
Apoptosis
Apoptosis - multiple species
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Spinocerebellar ataxia
Prion disease
Pathways of neurodegeneration - multiple diseases
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Legionellosis
Toxoplasmosis
Tuberculosis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
Colorectal cancer
Small cell lung cancer
Viral myocarditis
Lipid and atherosclerosis
  Release of apoptotic factors from the mitochondria
Formation of apoptosome
Activation of caspases through apoptosome-mediated cleavage
Transcriptional activation of mitochondrial biogenesis
Detoxification of Reactive Oxygen Species
TP53 Regulates Metabolic Genes
Respiratory electron transport
Regulation of the apoptosome activity
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
thrombocytopenia Thrombocytopenia rs121918552, rs1583394629 N/A
Thrombocytopenia thrombocytopenia 4 rs121918552, rs886037737, rs1562515878 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Thrombocytopenia With Normal Platelets autosomal thrombocytopenia with normal platelets N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 11005569
Adenocarcinoma of Lung Associate 36225197
Alzheimer Disease Inhibit 26881032
Antley Bixler Syndrome Phenotype Associate 19837910
Arthritis Rheumatoid Associate 24920239
Asthma Associate 37091894
Barrett Esophagus Associate 27431913
Barth Syndrome Associate 22023389
Breast Neoplasms Associate 11489892, 11571297, 11986784, 16309219, 23437193, 30632703, 30873742, 33680287, 33925065, 37700001
Breast Neoplasms Inhibit 20829044