Evidence Detail for ITGB2
Basic Information Top
| Gene Symbol: | ITGB2 ( CD18,LAD,LCAMB,LFA-1,MAC-1,MF17,MFI7 ) |
|---|---|
| Gene Full Name: | integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) |
| Band: | 21q22.3 |
| Quick Links | Entrez ID:3689; OMIM: 600065; Uniprot ID:ITB2_HUMAN; ENSEMBL ID: ENSG00000160255 |
Sequences Top Evidence Statistic 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 | Expression | CNV | Linkage | Low Scale Association | Other Studies | Total |
|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 3 (3) | 1 (2) | 0 (0) | 0 (0) | 1 (1) | 12 (4) |
Syndromic Autism Gene TopLow Scale Association Studies (by Ethnic Group) TopGenome-Wide Association Studies(By Ethnic Group) TopOther Low Scale Gene Studies Top| Reference | Orangnism | Tissue | ADI-R | ADOS | Diagnosis | Evidence Level | Result | |||
|---|---|---|---|---|---|---|---|---|---|---|
| Neale, 2012_1 | human | blood |  | | ASD | Mutation screen | ||||
| ||||||||||
Large Scale Expression Studies Top Microarray Studies: 3
| Reference | Population | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gregg, 2008_1 | mixed | lymphoblastoid cell lines | 35 (14.29%) | | | autism | autism | 12 (25.00%) |
2.232 | Up | 0.00548 | |
| ||||||||||||
| Gregg, 2008_2 | mixed | lymphoblastoid cell lines | 17 (11.76%) | | | autism with early onset | autism | 12 (25.00%) |
1.997 | Up | 0.0375 | |
| ||||||||||||
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
1.43105 | Up | 2.19157 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Population | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
CNV Studies Top| CNV Name | Chr | Band | Gain/Loss | Number of CNVs | Evidence Type | Reference | |
|---|---|---|---|---|---|---|---|
| Case | Control | ||||||
| AutCNV0000134 | 21 | 21q22 | loss | 1 | - | Denovo CNVs; | Jacquemont, 2006 |
| AutCNV0003437 | 21 | 21q22.3 | gain | 1 | - | CNVs Only Present In Patients; | Gai, 2011 |
Linkage 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.
