Gene Gene information from NCBI Gene database.
Entrez ID 4519
Gene name Mitochondrially encoded cytochrome b
Gene symbol CYTB
Synonyms (NCBI Gene)
MTCYB
Chromosome MT
Chromosome location -
miRNA miRNA information provided by mirtarbase database.
9
miRTarBase ID miRNA Experiments Reference
MIRT049965 hsa-miR-29a-3p CLASH 23622248
MIRT048433 hsa-miR-100-5p CLASH 23622248
MIRT045822 hsa-miR-140-5p CLASH 23622248
MIRT045100 hsa-miR-186-5p CLASH 23622248
MIRT042521 hsa-miR-423-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEA
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IDA 28844695
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
516020 7427 HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P00156
Protein name Cytochrome b (Complex III subunit 3) (Complex III subunit III) (Cytochrome b-c1 complex subunit 3) (Ubiquinol-cytochrome-c reductase complex cytochrome b subunit)
Protein function Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to th
PDB 5XTE , 5XTH , 5XTI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00033 Cytochrome_B 18 204 Cytochrome b/b6/petB Domain
PF00032 Cytochrom_B_C 258 359 Cytochrome b(C-terminal)/b6/petD Domain
Sequence
Sequence length 380
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Cardiac muscle contraction
Thermogenesis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy
  Respiratory electron transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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)
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
DEVELOPMENTAL DELAY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPSY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEARING IMPAIRMENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY, COARSE FACE, MACROCEPHALY, CEREBELLAR HYPOTROPHY SYNDROME Disgenet
★★☆☆☆
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
Acidosis Lactic Lactic acidosis Pubtator 20862300 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26881032, 30318261 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 30660753
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 23395464
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 33191792 Associate
★☆☆☆☆
Found in Text Mining only
Asthenozoospermia Asthenozoospermia BEFREE 23645088, 24931671, 26626315
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 22997526 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 23395464
★☆☆☆☆
Found in Text Mining only
Atypical Hemolytic Uremic Syndrome Hemolytic uremic syndrome Pubtator 37373158 Associate
★☆☆☆☆
Found in Text Mining only
AURAL ATRESIA, CONGENITAL Aural Atresia, Congenital BEFREE 25920536
★☆☆☆☆
Found in Text Mining only