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

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1352
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COX10
Synonyms (NCBI Gene) Gene synonyms aliases
MC4DN3
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602125 2260 ENSG00000006695
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mitochondrial Complex Deficiency Mitochondrial complex 4 deficiency, nuclear type 3 rs104894557, rs387906383, rs104894560, rs104894555, rs104894556 N/A
Show/Hide Unknown Diseases (8)
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
Asthma Asthma (childhood onset) N/A N/A GWAS
Cytochrome-C Oxidase Deficiency cytochrome-c oxidase deficiency disease N/A N/A GenCC
Endometriosis Endometriosis N/A N/A GWAS
leigh syndrome Leigh syndrome N/A N/A ClinVar
Show/Hide Text Mining Associations (15)
Associations from Text Mining Disease 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