ENSG00000119723
Homo sapiens | |
Features
| Gene ID: | ENSG00000119723 | | | | | Biological name : | COQ6 | | | | | Synonyms : | coenzyme Q6, monooxygenase / COQ6 / Q9Y2Z9 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 14 | | Strand: | 1 | | Band: | q24.3 | | Gene start: | 73949926 | | Gene end: | 73963670 | | | | | Corresponding Affymetrix probe sets: | 218760_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000451562
Ensembl peptide - ENSP00000451301
Ensembl peptide - ENSP00000486650
Ensembl peptide - ENSP00000333946
Ensembl peptide - ENSP00000377594
Ensembl peptide - ENSP00000450511
Ensembl peptide - ENSP00000450736
Ensembl peptide - ENSP00000451123
NCBI entrez gene - 51004
See in Manteia.
OMIM - 614647
RefSeq - XM_017021352
RefSeq - NM_182476
RefSeq - NM_182480
RefSeq - XM_006720156
RefSeq - XM_011536807
RefSeq - XM_011536808
RefSeq - XM_011536809
RefSeq - XM_011536810
RefSeq - XM_017021351
RefSeq Peptide - NP_872286
RefSeq Peptide - NP_872282
swissprot - G3V3A1
swissprot - G3V3L0
swissprot - G3V434
swissprot - G3V4A6
swissprot - Q9Y2Z9
swissprot - A0A0D9SFJ1
swissprot - G3V2L5
Ensembl - ENSG00000119723
| | | | | Related genetic diseases (OMIM): | 614650 - Coenzyme Q10 deficiency, primary, 6, 614650 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
No match
Protein motifs (from Interpro)
| IPR000689 | Ubiquinone biosynthesis monooxygenase COQ6 | | IPR002938 | FAD-binding domain | | IPR010971 | Ubiquinone biosynthesis hydroxylase UbiH/COQ6 | | IPR018168 | Ubiquinone biosynthesis hydroxylase, UbiH/UbiF/VisC/COQ6, conserved site | | IPR036188 | FAD/NAD(P)-binding domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000093 | Proteinuria | |
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| | HP:0000097 | Focal segmental glomerulosclerosis | |
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| | HP:0000100 | Nephrotic syndrome | |
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| | HP:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| | HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| | HP:0001967 | Diffuse mesangial sclerosis | |
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| | HP:0003593 | Early onset | |
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| | HP:0003678 | Rapidly progressive | |
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Interacting proteins (from Reactome)
No match
0 s.
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