Gene Report

Basic Info
Approved Symbol CTLA4
Previous Symbol CELIAC3, IDDM12
Symbol Alias CD152, CD, GSE, CD28, ICOS
Approved Name cytotoxic T-lymphocyte-associated protein 4
Previous Name celiac disease 3, "insulin-dependent diabetes mellitus 12"
Location 2q33
Position chr2:203867786-203873960, 1
External Links HGNC: 2505
Entrez Gene: 1493
Ensembl: ENSG00000163599
UCSC: uc002vak.2
No. of Studies 2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 2)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Liu, J,2011(a) SNP: rs16840252, rs231775, rs231777, rs231779, rs3087243, rs5742909 Our results suggest that shared common risk factors for schizophrenia, major depressive disorder and bipolar disorder exist in the CTLA-4 gene in the Chinese Han population. Positive Comment on Study
Jun, T. Y., 2004 Genotypic P-value = 0.208, X<sup>2</sup>(df=2)=3.14; allelic P-value = 0.256, X<sup>2</sup>(df=1)=1.29 in patients with bipolar disorder compared with controls.. There were no significant differences in genotype frequencies of CTLA4*G/G, CTLA4*G/A, and CTLA4*A/A between the patients with bipolar disorder and the control group.There were no significant differences in allelic frequencies of CTLA4*G and CTLA4*A between the patients with bipolar disorder and the control group. In the present study an association was not found of exon 1 (+49) polymorphism of CTLA4 gene with bipolar disorder in the Korean population. Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 16)

GO terms by PBA (count: 2)

GO terms by database search (count: 14)

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 1)

KEGG pathways by database search (count: 2)

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

Gene related interactors from protein-protein interactions data in HPRD (count: 13)

Related other genetic factors
Gene related SNPs (count: 17)

Literature-origin SNPs (count: 6)

LD-proxies (count: 11)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Overlap with SZ from candidate gene intersection analysis (count: 2)

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Overlap with MDD from candidate gene intersection analysis (count: 2)

View in gBrowse

Region: chr2:203867786..203873960 View in gBrowse
View in gBrowse