Evidence Detail 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
Quick LinksEntrez ID:23314; OMIM: 608148; Uniprot ID:SATB2_HUMAN; ENSEMBL ID: ENSG00000119042
Sequences Top
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
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.
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
(% Women)
ADI-R ADOS Diagnosis Age
IQ #Subjects
(% Women)
No Evidence.
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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