ENSG00000231852
Homo sapiens | |
Features
| Gene ID: | ENSG00000231852 | | | | | Biological name : | CYP21A2 | | | | | Synonyms : | CYP21A2 / cytochrome P450 family 21 subfamily A member 2 / P08686 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 6 | | Strand: | 1 | | Band: | p21.33 | | Gene start: | 32038265 | | Gene end: | 32041670 | | | | | Corresponding Affymetrix probe sets: | 214622_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000418104
Ensembl peptide - ENSP00000496625
Ensembl peptide - ENSP00000496119
Ensembl peptide - ENSP00000419572
Ensembl peptide - ENSP00000418561
Ensembl peptide - ENSP00000408860
Ensembl peptide - ENSP00000415043
Ensembl peptide - ENSP00000417321
NCBI entrez gene - 1589
See in Manteia.
OMIM - 613815
RefSeq - NM_001128590
RefSeq - NM_000500
swissprot - F8WBR4
swissprot - P08686
swissprot - E7EVC0
swissprot - Q16874
swissprot - E7ERT7
swissprot - E7EN87
Ensembl - ENSG00000231852
| | | | | Related genetic diseases (OMIM): | 201910 - Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 |
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)
| P05093 / CYP17A1 / cytochrome P450 family 17 subfamily A member 1 | ENSG00000148795 | 31 | | CYP2S1 / Q96SQ9 / cytochrome P450 family 2 subfamily S member 1 | ENSG00000167600 | 27 | | CYP1A2 / P05177 / cytochrome P450 family 1 subfamily A member 2 | ENSG00000140505 | 26 | | CYP1A1 / P04798 / cytochrome P450 family 1 subfamily A member 1 | ENSG00000140465 | 26 | | CYP1B1 / Q16678 / cytochrome P450 family 1 subfamily B member 1 | ENSG00000138061 | 25 |
Protein motifs (from Interpro)
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:0000047 | Hypospadias | "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] |
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| | HP:0000127 | Renal salt wasting | |
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| | HP:0000765 | Abnormality of the thorax | "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [HPO:curators] |
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| | HP:0000771 | Gynecomastia | |
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| | HP:0000822 | Hypertension | "High blood pressure." [HPO:curators] |
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| | HP:0000840 | Adrenogenital syndrome | |
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| | HP:0001507 | Growth abnormality | |
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| | HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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| | HP:0001945 | Fever | |
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| | HP:0008221 | Enlarged adrenal glands | |
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Interacting proteins (from Reactome)
No match
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