AutismKB 2.0

Evidence Details for SATB2


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Basic Information Top
Gene Symbol:SATB2 ( FLJ21474,FLJ32076,KIAA1034,MGC119474,MGC119477 )
Gene Full Name: SATB homeobox 2
Band: 2q33.1
Quick LinksEntrez 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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>SATB2|23314|protein
MERRSESPCLRDSPDRRSGSPDVKGPPPVKVARLEQNGSPMGARGRPNGAVAKAVGGLMIPVFCVVEQLDGSLEYDNREEHAEFVLVRKDVLFSQLVETALLALG
YSHSSAAQAQGIIKLGRWNPLPLSYVTDAPDATVADMLQDVYHVVTLKIQLQSCSKLEDLPAEQWNHATVRNALKELLKEMNQSTLAKECPLSQSMISSIVNSTY
YANVSATKCQEFGRWYKKYKKIKVERVERENLSDYCVLGQRPMHLPNMNQLASLGKTNEQSPHSQIHHSTPIRNQVPALQPIMSPGLLSPQLSPQLVRQQIAMAH
LINQQIAVSRLLAHQHPQAINQQFLNHPPIPRAVKPEPTNSSVEVSPDIYQQVRDELKRASVSQAVFARVAFNRTQGLLSEILRKEEDPRTASQSLLVNLRAMQN
FLNLPEVERDRIYQDERERSMNPNVSMVSSASSSPSSSRTPQAKTSTPTTDLPIKVDGANINITAAIYDEIQQEMKRAKVSQALFAKVAANKSQGWLCELLRWKE
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Evidence summary Top

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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 Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAD
OMIMCleft palate and mental retardation (119540)
DescriptionHaploinsufficiency 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;
LevelLevel 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) Top
CNV 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 Top