ENSG00000168306
Homo sapiens | |
Features
| Gene ID: | ENSG00000168306 | | | | | Biological name : | ACOX2 | | | | | Synonyms : | ACOX2 / acyl-CoA oxidase 2 / Q99424 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 3 | | Strand: | -1 | | Band: | p14.3 | | Gene start: | 58505136 | | Gene end: | 58537319 | | | | | Corresponding Affymetrix probe sets: | 205364_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000419133
Ensembl peptide - ENSP00000418515
Ensembl peptide - ENSP00000419927
Ensembl peptide - ENSP00000418562
Ensembl peptide - ENSP00000307697
Ensembl peptide - ENSP00000417877
NCBI entrez gene - 8309
See in Manteia.
OMIM - 601641
RefSeq - XM_017007302
RefSeq - NM_003500
RefSeq - XM_005265505
RefSeq - XM_006713340
RefSeq Peptide - NP_003491
swissprot - C9JY29
swissprot - H7C573
swissprot - C9J0G0
swissprot - H7C4Q2
swissprot - H7C4Y2
swissprot - Q99424
Ensembl - ENSG00000168306
| | | | | Related genetic diseases (OMIM): | 617308 - Bile acid synthesis defect, congenital, 6, 617308 |
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)
Protein motifs (from Interpro)
| IPR002655 | Acyl-CoA oxidase, C-terminal | | IPR006091 | Acyl-CoA oxidase/dehydrogenase, central domain | | IPR009100 | Acyl-CoA dehydrogenase/oxidase, N-terminal and middle domain superfamily | | IPR012258 | Acyl-CoA oxidase | | IPR029320 | Acyl-coenzyme A oxidase, N-terminal | | IPR036250 | Acyl-CoA dehydrogenase-like, C-terminal | | IPR037069 | Acyl-CoA dehydrogenase/oxidase, N-terminal 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:0000511 | Vertical supranuclear gaze palsy | |
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| | HP:0000750 | Impaired language development | |
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| | HP:0001256 | Mental retardation, mild | "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators] |
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| | HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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| | HP:0001310 | Dysmetria | |
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| | HP:0001350 | Slurred speech | |
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| | HP:0002570 | Steatorrhea | |
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| | HP:0003593 | Early onset | |
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| | HP:0045014 | Hypolipidemia | |
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| | HP:0100512 | Vitamin D deficiency | |
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Interacting proteins (from Reactome)
No match
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