Gene Gene information from NCBI Gene database.
Entrez ID 54205
Gene name Cytochrome c, somatic
Gene symbol CYCS
Synonyms (NCBI Gene)
CYCHCSTHC4
Chromosome 7
Chromosome location 7p15.3
Summary 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.
4
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.
1187
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
123970 19986 ENSG00000172115
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
CYCS-related disorder Likely pathogenic rs1583394629 RCV003399707
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia Likely pathogenic rs121918552, rs1583394629 RCV000851585
RCV001003904
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia 4 Likely pathogenic; Pathogenic rs1783403912, rs2535205469, rs886037737, rs121918552, rs1562515878 RCV001580209
RCV002280982
RCV000157619
RCV000018419
RCV000736012
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Abnormal bleeding Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL THROMBOCYTOPENIA WITH NORMAL PLATELETS Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
AA amyloidosis AA amyloidosis BEFREE 22879465
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26881032 Inhibit
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 23535033
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASDB_DG 23535033
★☆☆☆☆
Found in Text Mining only
Angina, Unstable Intermediate coronary syndrome BEFREE 31452690
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 24920239 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 37091894 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal thrombocytopenia with normal platelets Thrombocytopenia With Normal Platelets Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Barrett Esophagus Barrett esophagus Pubtator 27431913 Associate
★☆☆☆☆
Found in Text Mining only
Barth Syndrome Barth syndrome Pubtator 22023389 Associate
★☆☆☆☆
Found in Text Mining only