Evidence Details for SRD5A2
Basic Information Top
| Gene Symbol: | SRD5A2 ( MGC138457 ) |
|---|---|
| Gene Full Name: | steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) |
| Band: | 2p23.1 |
| Quick Links | Entrez ID:6716; OMIM: 607306; Uniprot ID:S5A2_HUMAN; ENSEMBL ID: ENSG00000049319; HGNC ID: 11285 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SRD5A2|6716|nucleotide
ATGCAGGTTCAGTGCCAGCAGAGCCCAGTGCTGGCAGGCAGCGCCACTTTGGTCGCCCTTGGGGCACTGGCCTTGTACGTCGCGAAGCCCTCCGGCTACGGGAAG
CACACGGAGAGCCTGAAGCCGGCGGCTACCCGCCTGCCAGCCCGCGCCGCCTGGTTCCTGCAGGAGCTGCCTTCCTTCGCGGTGCCCGCGGGGATCCTCGCCCGG
CAGCCCCTCTCCCTCTTCGGGCCACCTGGGACGGTACTTCTGGGCCTCTTCTGCCTACATTACTTCCACAGGACATTTGTGTACTCACTGCTCAATCGAGGGAGG
CCTTATCCAGCTATACTCATTCTCAGAGGCACTGCCTTCTGCACTGGAAATGGAGTCCTTCAAGGCTACTATCTGATTTACTGTGCTGAATACCCTGATGGGTGG
TACACAGACATACGGTTTAGCTTGGGTGTCTTCTTATTTATTTTGGGAATGGGAATAAACATTCATAGTGACTATATATTGCGCCAGCTCAGGAAGCCTGGAGAA
ATCAGCTACAGGATTCCACAAGGTGGCTTGTTTACGTATGTTTCTGGAGCCAATTTCCTCGGTGAGATCATTGAATGGATCGGCTATGCCCTGGCCACTTGGTCC
CTCCCAGCACTTGCATTTGCATTTTTCTCACTTTGTTTCCTTGGGCTGCGAGCTTTTCACCACCATAGGTTCTACCTCAAGATGTTTGAGGACTACCCCAAATCT
CGGAAAGCCCTTATTCCATTCATCTTTTAA
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ATGCAGGTTCAGTGCCAGCAGAGCCCAGTGCTGGCAGGCAGCGCCACTTTGGTCGCCCTTGGGGCACTGGCCTTGTACGTCGCGAAGCCCTCCGGCTACGGGAAG
CACACGGAGAGCCTGAAGCCGGCGGCTACCCGCCTGCCAGCCCGCGCCGCCTGGTTCCTGCAGGAGCTGCCTTCCTTCGCGGTGCCCGCGGGGATCCTCGCCCGG
CAGCCCCTCTCCCTCTTCGGGCCACCTGGGACGGTACTTCTGGGCCTCTTCTGCCTACATTACTTCCACAGGACATTTGTGTACTCACTGCTCAATCGAGGGAGG
CCTTATCCAGCTATACTCATTCTCAGAGGCACTGCCTTCTGCACTGGAAATGGAGTCCTTCAAGGCTACTATCTGATTTACTGTGCTGAATACCCTGATGGGTGG
TACACAGACATACGGTTTAGCTTGGGTGTCTTCTTATTTATTTTGGGAATGGGAATAAACATTCATAGTGACTATATATTGCGCCAGCTCAGGAAGCCTGGAGAA
ATCAGCTACAGGATTCCACAAGGTGGCTTGTTTACGTATGTTTCTGGAGCCAATTTCCTCGGTGAGATCATTGAATGGATCGGCTATGCCCTGGCCACTTGGTCC
CTCCCAGCACTTGCATTTGCATTTTTCTCACTTTGTTTCCTTGGGCTGCGAGCTTTTCACCACCATAGGTTCTACCTCAAGATGTTTGAGGACTACCCCAAATCT
CGGAAAGCCCTTATTCCATTCATCTTTTAA
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>SRD5A2|6716|protein
MQVQCQQSPVLAGSATLVALGALALYVAKPSGYGKHTESLKPAATRLPARAAWFLQELPSFAVPAGILARQPLSLFGPPGTVLLGLFCLHYFHRTFVYSLLNRGR
PYPAILILRGTAFCTGNGVLQGYYLIYCAEYPDGWYTDIRFSLGVFLFILGMGINIHSDYILRQLRKPGEISYRIPQGGLFTYVSGANFLGEIIEWIGYALATWS
LPALAFAFFSLCFLGLRAFHHHRFYLKMFEDYPKSRKALIPFIF
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MQVQCQQSPVLAGSATLVALGALALYVAKPSGYGKHTESLKPAATRLPARAAWFLQELPSFAVPAGILARQPLSLFGPPGTVLLGLFCLHYFHRTFVYSLLNRGR
PYPAILILRGTAFCTGNGVLQGYYLIYCAEYPDGWYTDIRFSLGVFLFILGMGINIHSDYILRQLRKPGEISYRIPQGGLFTYVSGANFLGEIIEWIGYALATWS
LPALAFAFFSLCFLGLRAFHHHRFYLKMFEDYPKSRKALIPFIF
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 1 (1) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Berkel, 2010 | Canada | SNP microarray |  | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| MIXED/OTHERS | ||||||||||
| Zettergren A, 2013_1 | Sweden | KASPar PCR SNP genotyping system | - | 1771 (-) |  | | autistic-like traits | - - |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.