ENSG00000019186
Homo sapiens | |
Features
| Gene ID: | ENSG00000019186 | | | | | Biological name : | CYP24A1 | | | | | Synonyms : | CYP24A1 / cytochrome P450 family 24 subfamily A member 1 / Q07973 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 20 | | Strand: | -1 | | Band: | q13.2 | | Gene start: | 54153449 | | Gene end: | 54173973 | | | | | Corresponding Affymetrix probe sets: | 206504_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000216862
Ensembl peptide - ENSP00000379284
Ensembl peptide - ENSP00000379285
NCBI entrez gene - 1591
See in Manteia.
OMIM - 126065
RefSeq - XM_017027693
RefSeq - NM_000782
RefSeq - NM_001128915
RefSeq - XM_005260304
RefSeq - XM_017027691
RefSeq - XM_017027692
RefSeq Peptide - NP_001122387
RefSeq Peptide - NP_000773
swissprot - Q07973
Ensembl - ENSG00000019186
| | | | | Related genetic diseases (OMIM): | 143880 - Hypercalcemia, infantile, 1, 143880 |
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)
| O15528 / CYP27B1 / cytochrome P450 family 27 subfamily B member 1 | ENSG00000111012 | 30 | | Q02318 / CYP27A1 / cytochrome P450 family 27 subfamily A member 1 | ENSG00000135929 | 30 | | P05108 / CYP11A1 / cytochrome P450 family 11 subfamily A member 1 | ENSG00000140459 | 24 | | P15538 / CYP11B1 / cytochrome P450 family 11 subfamily B member 1 | ENSG00000160882 | 23 | | P19099 / CYP11B2 / cytochrome P450 family 11 subfamily B member 2 | ENSG00000179142 | 23 | | Q4G0S4 / CYP27C1 / cytochrome P450 family 27 subfamily C member 1 | ENSG00000186684 | 23 | | CYP3A5 / P20815 / cytochrome P450 family 3 subfamily A member 5 | ENSG00000106258 | 21 | | CYP3A4 / P08684 / cytochrome P450 family 3 subfamily A member 4 | ENSG00000160868 | 21 | | CYP3A7 / P24462 / cytochrome P450 family 3 subfamily A member 7 | ENSG00000160870 | 20 | | P24462 / CYP3A7-CYP3A51P / CYP3A7-CYP3A51P readthrough | ENSG00000282301 | 20 | | Q9HB55 / CYP3A43 / cytochrome P450 family 3 subfamily A member 43 | ENSG00000021461 | 19 | | Q9Y6A2 / CYP46A1 / cytochrome P450 family 46 subfamily A member 1 | ENSG00000036530 | 19 | | P24557 / TBXAS1 / thromboxane A synthase 1 | ENSG00000059377 | 18 |
Protein motifs (from Interpro)
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| | 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:0000103 | Polyuria | |
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| | HP:0000121 | Nephrocalcinosis | |
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| | HP:0000179 | Prominent lower lip | "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip." [HPO:curators] |
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| | HP:0000478 | Abnormality of the eyes | "Any abnormality of the `eyes` (FMA:54448), including location, spacing, and intraocular abnormalities." [HPO:curators] |
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| | HP:0000787 | Kidney stones | |
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| | HP:0001249 | Mental retardation | |
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| | HP:0001254 | Lethargy | |
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| | HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| | HP:0001508 | Failure to thrive | |
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| | HP:0001642 | Pulmonic stenosis | "A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis). Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction." [HPO:curators] |
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| | HP:0001650 | Aortic stenosis | "The presence of a stenosis (narrowing) of the aortic valve." [HPO:curators] |
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| | HP:0001824 | Weight loss | |
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| | HP:0001944 | Dehydration | |
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| | HP:0002013 | Vomiting | |
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| | HP:0002150 | Hypercalciuria | |
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| | HP:0004428 | Elfin facies | |
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| | HP:0008250 | Infantile hypercalcemia | |
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Interacting proteins (from Reactome)
No match
0 s.
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