The CTLA4 gene homepage

General information
Gene symbol CTLA4
Gene name cytotoxic T-lymphocyte-associated protein 4
Chromosome 2
Chromosomal band q33
Imprinted Unknown
Genomic reference NG_011502.1
Transcript reference NM_001037631.2, NM_005214.4
Associated with diseases ALPS-5, CELIAC-3, IDDM-12, SLE, Hashimoto thyroiditis
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 19
Unique public DNA variants reported 2
Individuals with public variants 23
Hidden variants 15
Date created November 30, -0001
Date last updated September 28, 2016
Version CTLA4:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:2505
Entrez Gene 1493
PubMed articles CTLA4
OMIM - Gene 123890
OMIM - Diseases ALPS-5 (autoimmune lymphoproliferative syndrome, type V (ALPS-5))
CELIAC-3 (celiac disease, susceptibility to, type 3 (CELIAC-3))
IDDM-12 (diabetes mellitus, insulin-dependent, type 12 (IDDM-12))
SLE (lupus erythematosus, systemic, susceptibility to (SLE))
Hashimoto thyroiditis


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00028315 2 transcript variant 1 NM_005214.4 NP_005205.2 19
00028316 2 transcript variant 2 NM_001037631.2 NP_001032720.1 19