COX10 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1352
Gene name Cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
Gene symbol COX10
Synonyms (NCBI Gene)
MC4DN3
Chromosome 17
Chromosome location 17p12
Summary Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochond
SNPs SNP information provided by dbSNP.
10
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (10)
SNP ID Visualize variation Clinical significance Consequence
rs104894555 C>A Pathogenic Missense variant, coding sequence variant
rs104894556 C>G,T Pathogenic Missense variant, coding sequence variant
rs104894557 A>G,T Pathogenic Missense variant, coding sequence variant
rs104894560 C>A Pathogenic Missense variant, coding sequence variant
rs113058506 C>A,T Conflicting-interpretations-of-pathogenicity, benign-likely-benign Coding sequence variant, synonymous variant, missense variant
miRNA miRNA information provided by mirtarbase database.
444
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (444)
miRTarBase ID miRNA Experiments Reference
MIRT020193 hsa-miR-130b-3p Sequencing 20371350
MIRT027567 hsa-miR-98-5p Microarray 19088304
MIRT031141 hsa-miR-19b-3p Sequencing 20371350
MIRT051700 hsa-let-7e-5p CLASH 23622248
MIRT076030 hsa-miR-519a-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (37)
GO ID Ontology Definition Evidence Reference
GO:0000266 Process Mitochondrial fission IEA
GO:0002521 Process Leukocyte differentiation IEA
GO:0004311 Function Geranylgeranyl diphosphate synthase activity IGI 8078902
GO:0004311 Function Geranylgeranyl diphosphate synthase activity TAS 8078902
GO:0004659 Function Prenyltransferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602125 2260 ENSG00000006695
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q12887
Protein name Protoheme IX farnesyltransferase, mitochondrial (EC 2.5.1.141) (Heme O synthase)
Protein function Converts protoheme IX and farnesyl diphosphate to heme O.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01040 UbiA 168 → 418 UbiA prenyltransferase family Family
Sequence 
MAASPHTLSSRLLTGCVGGSVWYLERRTIQDSPHKFLHLLRNVNKQWITFQHFSFLKRMY
VTQLNRSHNQQVRPKPEPVASPFLEKTSSGQAKAEIYEMRPLSPPSLSLSRKPNEKELIE
LEPDSVIEDSIDVGKETKEEKRWKEMKLQVYDLPGILARLSKIKLTALVVSTTAAGFALA
PGPFDWPCFLLTSVGTGLASCAANSINQFFEVPFDSNMNRTKNRPLVRGQISPLLAVSFA
TCCAVPGVAILTLGVNPLTGALGLFNIFLYTCCYTPLKRISIANTWVGAVVGAIPPVMGW
TAATGSLDAGAFLLGGILYSWQFPHFNALSWGLREDYSRGGYCMMSVTHPGLCRRVALRH
CLALLVLSAAAPVLDITTWTFPIMALPINAYISYLGFRFYVDADRRSSRRLFFCSLWHLP
LLLLLMLTCKRPSGGGDAGPPPS
Sequence length 443
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Oxidative phosphorylation
Porphyrin metabolism
Metabolic pathways
Biosynthesis of cofactors
Thermogenesis 		  Heme biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
294
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mitochondrial complex IV deficiency, nuclear type 1 Likely pathogenic; Pathogenic rs104894557, rs1597527946 RCV000995747
RCV000995746
Mitochondrial complex IV deficiency, nuclear type 3 Likely pathogenic; Pathogenic rs1425392070, rs104894560, rs104894555, rs104894556, rs104894557, rs387906383, rs2508434662 RCV005005942
RCV000007956
RCV000007958
RCV000007959
RCV000007960
RCV000007961
RCV000007962
RCV003333397
Show/Hide Unknown Diseases (20)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Conflicting classifications of pathogenicity rs111541535 RCV005890669
Adrenocortical carcinoma, hereditary Benign rs2230351 RCV005890677
Cervical cancer Conflicting classifications of pathogenicity rs111541535 RCV005890670
Cholangiocarcinoma Benign rs2230351 RCV005890682
Show/Hide Text Mining Associations (15)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acrocephalosyndactylia Associate 31821324
Brain Ischemia Associate 31821324
Breast Neoplasms Associate 32190687, 36463760
Carcinoma Non Small Cell Lung Associate 34323174
Coronary Artery Disease Associate 31821324
Cytochrome c Oxidase Deficiency Associate 11013136, 22515166
Glioma Associate 30984540
Leigh Disease Associate 36675121
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa Associate 26662397
Neoplasms Associate 34440306