Evidence Details for AGTR2
Basic Information Top
| Gene Symbol: | AGTR2 ( AT2,ATGR2,MRX88 ) |
|---|---|
| Gene Full Name: | angiotensin II receptor, type 2 |
| Band: | Xq23 |
| Quick Links | Entrez ID:186; OMIM: 300034; Uniprot ID:AGTR2_HUMAN; ENSEMBL ID: ENSG00000180772; HGNC ID: 338 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>AGTR2|186|nucleotide
ATGAAGGGCAACTCCACCCTTGCCACTACTAGCAAAAACATTACCAGCGGTCTTCACTTCGGGCTTGTGAACATCTCTGGCAACAATGAGTCTACCTTGAACTGT
TCACAGAAACCATCAGATAAGCATTTAGATGCAATTCCTATTCTTTACTACATTATATTTGTAATTGGATTTCTGGTCAATATTGTCGTGGTTACACTGTTTTGT
TGTCAAAAGGGTCCTAAAAAGGTTTCTAGCATATACATCTTCAACCTCGCTGTGGCTGATTTACTCCTTTTGGCTACTCTTCCTCTATGGGCAACCTATTATTCT
TATAGATATGACTGGCTCTTTGGACCTGTGATGTGCAAAGTTTTTGGTTCTTTTCTTACCCTGAACATGTTTGCAAGCATTTTTTTTATCACCTGCATGAGTGTT
GATAGGTACCAATCTGTCATCTACCCCTTTCTGTCTCAAAGAAGAAATCCCTGGCAAGCATCTTATATAGTTCCCCTTGTTTGGTGTATGGCCTGTTTGTCCTCA
TTGCCAACATTTTATTTTCGAGACGTCAGAACCATTGAATACTTAGGAGTGAATGCTTGCATTATGGCTTTCCCACCTGAGAAATATGCCCAATGGTCAGCTGGG
ATTGCCTTAATGAAAAATATCCTTGGTTTTATTATCCCTTTAATATTCATAGCAACATGCTATTTTGGAATTAGAAAACACTTACTGAAGACGAATAGCTATGGG
AAGAACAGGATAACCCGTGACCAAGTCCTGAAGATGGCAGCTGCTGTTGTTCTGGCCTTCATCATTTGCTGGCTTCCCTTCCATGTTCTGACCTTCCTGGATGCT
CTGGCCTGGATGGGTGTCATTAATAGCTGCGAAGTTATAGCAGTCATTGACCTGGCACTTCCTTTTGCCATCCTCTTGGGATTCACCAACAGCTGCGTTAATCCG
TTTCTGTATTGTTTTGTTGGAAACCGGTTCCAACAGAAGCTCCGCAGTGTGTTTAGGGTTCCAATTACTTGGCTCCAAGGGAAAAGAGAGAGTATGTCTTGCCGG
AAAAGCAGTTCTCTTAGAGAAATGGAGACCTTTGTGTCTTAA
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ATGAAGGGCAACTCCACCCTTGCCACTACTAGCAAAAACATTACCAGCGGTCTTCACTTCGGGCTTGTGAACATCTCTGGCAACAATGAGTCTACCTTGAACTGT
TCACAGAAACCATCAGATAAGCATTTAGATGCAATTCCTATTCTTTACTACATTATATTTGTAATTGGATTTCTGGTCAATATTGTCGTGGTTACACTGTTTTGT
TGTCAAAAGGGTCCTAAAAAGGTTTCTAGCATATACATCTTCAACCTCGCTGTGGCTGATTTACTCCTTTTGGCTACTCTTCCTCTATGGGCAACCTATTATTCT
TATAGATATGACTGGCTCTTTGGACCTGTGATGTGCAAAGTTTTTGGTTCTTTTCTTACCCTGAACATGTTTGCAAGCATTTTTTTTATCACCTGCATGAGTGTT
GATAGGTACCAATCTGTCATCTACCCCTTTCTGTCTCAAAGAAGAAATCCCTGGCAAGCATCTTATATAGTTCCCCTTGTTTGGTGTATGGCCTGTTTGTCCTCA
TTGCCAACATTTTATTTTCGAGACGTCAGAACCATTGAATACTTAGGAGTGAATGCTTGCATTATGGCTTTCCCACCTGAGAAATATGCCCAATGGTCAGCTGGG
ATTGCCTTAATGAAAAATATCCTTGGTTTTATTATCCCTTTAATATTCATAGCAACATGCTATTTTGGAATTAGAAAACACTTACTGAAGACGAATAGCTATGGG
AAGAACAGGATAACCCGTGACCAAGTCCTGAAGATGGCAGCTGCTGTTGTTCTGGCCTTCATCATTTGCTGGCTTCCCTTCCATGTTCTGACCTTCCTGGATGCT
CTGGCCTGGATGGGTGTCATTAATAGCTGCGAAGTTATAGCAGTCATTGACCTGGCACTTCCTTTTGCCATCCTCTTGGGATTCACCAACAGCTGCGTTAATCCG
TTTCTGTATTGTTTTGTTGGAAACCGGTTCCAACAGAAGCTCCGCAGTGTGTTTAGGGTTCCAATTACTTGGCTCCAAGGGAAAAGAGAGAGTATGTCTTGCCGG
AAAAGCAGTTCTCTTAGAGAAATGGAGACCTTTGTGTCTTAA
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>AGTR2|186|protein
MKGNSTLATTSKNITSGLHFGLVNISGNNESTLNCSQKPSDKHLDAIPILYYIIFVIGFLVNIVVVTLFCCQKGPKKVSSIYIFNLAVADLLLLATLPLWATYYS
YRYDWLFGPVMCKVFGSFLTLNMFASIFFITCMSVDRYQSVIYPFLSQRRNPWQASYIVPLVWCMACLSSLPTFYFRDVRTIEYLGVNACIMAFPPEKYAQWSAG
IALMKNILGFIIPLIFIATCYFGIRKHLLKTNSYGKNRITRDQVLKMAAAVVLAFIICWLPFHVLTFLDALAWMGVINSCEVIAVIDLALPFAILLGFTNSCVNP
FLYCFVGNRFQQKLRSVFRVPITWLQGKRESMSCRKSSSLREMETFVS
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MKGNSTLATTSKNITSGLHFGLVNISGNNESTLNCSQKPSDKHLDAIPILYYIIFVIGFLVNIVVVTLFCCQKGPKKVSSIYIFNLAVADLLLLATLPLWATYYS
YRYDWLFGPVMCKVFGSFLTLNMFASIFFITCMSVDRYQSVIYPFLSQRRNPWQASYIVPLVWCMACLSSLPTFYFRDVRTIEYLGVNACIMAFPPEKYAQWSAG
IALMKNILGFIIPLIFIATCYFGIRKHLLKTNSYGKNRITRDQVLKMAAAVVLAFIICWLPFHVLTFLDALAWMGVINSCEVIAVIDLALPFAILLGFTNSCVNP
FLYCFVGNRFQQKLRSVFRVPITWLQGKRESMSCRKSSSLREMETFVS
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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) | Yes | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | XL |
|---|---|
| OMIM | Mental retardation, X-linked 88 (300852) |
| Description | Non-syndromic X-linked ID |
| Reference(s) | 12089445; |
| Level | Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
Genome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge 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.