Evidence Details for SATB2
Basic Information Top
| Gene Symbol: | SATB2 ( FLJ21474,FLJ32076,KIAA1034,MGC119474,MGC119477 ) |
|---|---|
| Gene Full Name: | SATB homeobox 2 |
| Band: | 2q33.1 |
| Quick Links | Entrez ID:23314; OMIM: 608148; Uniprot ID:SATB2_HUMAN; ENSEMBL ID: ENSG00000119042; HGNC ID: 21637 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SATB2|23314|nucleotide
ATGGAGCGGCGGAGCGAGAGCCCGTGTCTGCGGGACAGCCCCGACCGGCGGAGCGGCAGCCCGGACGTCAAGGGGCCTCCCCCAGTGAAGGTGGCCCGGCTGGAG
CAGAACGGCAGCCCCATGGGAGCCCGCGGGAGGCCCAACGGCGCCGTGGCCAAGGCCGTGGGAGGTTTGATGATTCCTGTCTTTTGTGTCGTGGAGCAGTTGGAC
GGCTCTCTTGAATATGACAACAGAGAAGAACACGCCGAGTTTGTCCTGGTGCGGAAAGATGTGCTTTTTAGCCAGCTGGTGGAGACTGCGCTCCTGGCCCTGGGG
TATTCTCACAGCTCTGCGGCCCAGGCCCAAGGAATAATCAAGCTGGGAAGGTGGAACCCTCTCCCCCTCAGTTATGTGACAGATGCACCCGACGCGACAGTGGCC
GACATGCTACAAGATGTCTATCATGTTGTGACGTTGAAAATCCAATTACAAAGTTGTTCAAAGTTGGAAGACTTGCCTGCGGAGCAGTGGAACCATGCCACAGTC
CGCAATGCCTTAAAGGAACTGCTCAAAGAGATGAACCAGAGCACATTAGCCAAAGAATGCCCTCTCTCCCAGAGTATGATTTCATCCATTGTAAATAGCACATAT
TATGCCAATGTGTCAGCAACCAAGTGCCAGGAGTTTGGGAGATGGTATAAAAAGTACAAGAAGATTAAAGTGGAAAGAGTGGAACGAGAAAACCTTTCAGACTAT
TGTGTTCTGGGCCAGCGTCCAATGCATTTACCAAATATGAACCAGCTGGCATCCCTGGGGAAAACCAACGAACAGTCTCCTCACAGCCAAATTCACCACAGTACT
CCAATCCGAAACCAAGTGCCCGCATTACAGCCCATCATGAGCCCTGGTCTTCTTTCTCCCCAGCTTAGTCCACAACTTGTAAGGCAACAAATAGCCATGGCCCAT
CTGATAAACCAACAGATTGCCGTTAGCCGGCTCCTGGCTCACCAGCATCCTCAAGCCATCAACCAGCAGTTCCTGAACCATCCACCCATCCCCAGAGCAGTTAAG
CCAGAGCCAACCAACTCTTCCGTGGAAGTCTCTCCAGATATCTACCAGCAAGTCAGAGATGAGCTGAAGAGGGCCAGTGTGTCCCAAGCTGTCTTTGCAAGAGTG
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ATGGAGCGGCGGAGCGAGAGCCCGTGTCTGCGGGACAGCCCCGACCGGCGGAGCGGCAGCCCGGACGTCAAGGGGCCTCCCCCAGTGAAGGTGGCCCGGCTGGAG
CAGAACGGCAGCCCCATGGGAGCCCGCGGGAGGCCCAACGGCGCCGTGGCCAAGGCCGTGGGAGGTTTGATGATTCCTGTCTTTTGTGTCGTGGAGCAGTTGGAC
GGCTCTCTTGAATATGACAACAGAGAAGAACACGCCGAGTTTGTCCTGGTGCGGAAAGATGTGCTTTTTAGCCAGCTGGTGGAGACTGCGCTCCTGGCCCTGGGG
TATTCTCACAGCTCTGCGGCCCAGGCCCAAGGAATAATCAAGCTGGGAAGGTGGAACCCTCTCCCCCTCAGTTATGTGACAGATGCACCCGACGCGACAGTGGCC
GACATGCTACAAGATGTCTATCATGTTGTGACGTTGAAAATCCAATTACAAAGTTGTTCAAAGTTGGAAGACTTGCCTGCGGAGCAGTGGAACCATGCCACAGTC
CGCAATGCCTTAAAGGAACTGCTCAAAGAGATGAACCAGAGCACATTAGCCAAAGAATGCCCTCTCTCCCAGAGTATGATTTCATCCATTGTAAATAGCACATAT
TATGCCAATGTGTCAGCAACCAAGTGCCAGGAGTTTGGGAGATGGTATAAAAAGTACAAGAAGATTAAAGTGGAAAGAGTGGAACGAGAAAACCTTTCAGACTAT
TGTGTTCTGGGCCAGCGTCCAATGCATTTACCAAATATGAACCAGCTGGCATCCCTGGGGAAAACCAACGAACAGTCTCCTCACAGCCAAATTCACCACAGTACT
CCAATCCGAAACCAAGTGCCCGCATTACAGCCCATCATGAGCCCTGGTCTTCTTTCTCCCCAGCTTAGTCCACAACTTGTAAGGCAACAAATAGCCATGGCCCAT
CTGATAAACCAACAGATTGCCGTTAGCCGGCTCCTGGCTCACCAGCATCCTCAAGCCATCAACCAGCAGTTCCTGAACCATCCACCCATCCCCAGAGCAGTTAAG
CCAGAGCCAACCAACTCTTCCGTGGAAGTCTCTCCAGATATCTACCAGCAAGTCAGAGATGAGCTGAAGAGGGCCAGTGTGTCCCAAGCTGTCTTTGCAAGAGTG
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>SATB2|23314|protein
MERRSESPCLRDSPDRRSGSPDVKGPPPVKVARLEQNGSPMGARGRPNGAVAKAVGGLMIPVFCVVEQLDGSLEYDNREEHAEFVLVRKDVLFSQLVETALLALG
YSHSSAAQAQGIIKLGRWNPLPLSYVTDAPDATVADMLQDVYHVVTLKIQLQSCSKLEDLPAEQWNHATVRNALKELLKEMNQSTLAKECPLSQSMISSIVNSTY
YANVSATKCQEFGRWYKKYKKIKVERVERENLSDYCVLGQRPMHLPNMNQLASLGKTNEQSPHSQIHHSTPIRNQVPALQPIMSPGLLSPQLSPQLVRQQIAMAH
LINQQIAVSRLLAHQHPQAINQQFLNHPPIPRAVKPEPTNSSVEVSPDIYQQVRDELKRASVSQAVFARVAFNRTQGLLSEILRKEEDPRTASQSLLVNLRAMQN
FLNLPEVERDRIYQDERERSMNPNVSMVSSASSSPSSSRTPQAKTSTPTTDLPIKVDGANINITAAIYDEIQQEMKRAKVSQALFAKVAANKSQGWLCELLRWKE
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MERRSESPCLRDSPDRRSGSPDVKGPPPVKVARLEQNGSPMGARGRPNGAVAKAVGGLMIPVFCVVEQLDGSLEYDNREEHAEFVLVRKDVLFSQLVETALLALG
YSHSSAAQAQGIIKLGRWNPLPLSYVTDAPDATVADMLQDVYHVVTLKIQLQSCSKLEDLPAEQWNHATVRNALKELLKEMNQSTLAKECPLSQSMISSIVNSTY
YANVSATKCQEFGRWYKKYKKIKVERVERENLSDYCVLGQRPMHLPNMNQLASLGKTNEQSPHSQIHHSTPIRNQVPALQPIMSPGLLSPQLSPQLVRQQIAMAH
LINQQIAVSRLLAHQHPQAINQQFLNHPPIPRAVKPEPTNSSVEVSPDIYQQVRDELKRASVSQAVFARVAFNRTQGLLSEILRKEEDPRTASQSLLVNLRAMQN
FLNLPEVERDRIYQDERERSMNPNVSMVSSASSSPSSSRTPQAKTSTPTTDLPIKVDGANINITAAIYDEIQQEMKRAKVSQALFAKVAANKSQGWLCELLRWKE
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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) | 1 (1) | 0 (0) | 0 (1) | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | AD |
|---|---|
| OMIM | Cleft palate and mental retardation (119540) |
| Description | Haploinsufficiency of SATB2 causes some of the clinical features of the 2q33.1 microdeletion syndrome, including severe ID, cleft palate and tooth anomalies. SATB2 was disrupted in an individual with ASD carrying a balanced translocation |
| Reference(s) | 18252227; 16179223; |
| 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 Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Asadollahi R, 2014 | - | CMA | - | - | NDDs | - | - | - | - | 714 | 2528 | 3242 |
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) |
|||||
| CAUCASIAN | ||||||||||
| Ramoz, 2008_1 | USA, AGRE | - | 334 | 610 (21.64%) |  |  | AD | - - |
- - | |
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 Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Geisheker MR, 2017 | - | - | 36 | Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. |
| Trujillano D, 2017 | 5 | - | 5 | Clinical exome sequencing: results from 2819 samples reflecting 1000 families. |
NGS 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.