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Aliases & Descriptions for CTLA4
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases CD 1 , 2 CD152 1 , 2 , 3 CD28 1 CELIAC3 2 , 5 CTLA-4 2 , 3 GSE 1 , 2 ICOS 1 , 2 IDDM12 2 , 5 OTTHUMP00000163781 2
Descriptions CD152 antigen 3 Cytotoxic T-lymphocyte-associated antigen 4 2 , 3 celiac disease 3 1 , 2 cytotoxic T-lymphocyte-associated protein 4 2 cytotoxic T-lymphocyte-associated serine esterase-4 2 ligand and transmembrane spliced cytotoxic T lymphocyte associated antigen 4 2
Search outside databases for aliases for CTLA4 genePrevious GC identifers: GC02P202949 GC02P203457 GC02P204696 GC02P204935 GC02P204558
Summaries for CTLA4 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for CTLA4 : This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits aninhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and acytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, havebeen characterized. The membrane-bound isoform functions as a homodimer interconnected by adisulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have beenassociated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiacdisease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmunediseases. [provided by RefSeq] UniProtKB/Swiss-Prot: CTLA4_HUMAN, P16410 Function : Possibly involved in T-cell activation. Binds to B7-1 (CD80) and B7-2 (CD86)
Gene Wiki entry for CTLA4 (CTLA-4)
Genomic Location for CTLA4
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the CTLA4 gene Entrez Gene cytogenetic band: 2q33 Ensembl cytogenetic band: 2q33.2 HGNC cytogenetic band: 2q33 CTLA4 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure
GeneLoc location for GC02P204440:
(about GC identifiers )
Start:
204,440,754 bp from pter
End:
204,446,928 bp from pter
Size:
6,175 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000002.10 NT_005403.16 Proteins for CTLA4
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: CTLA4_HUMAN, P16410 (See
protein sequence )Recommended Name: Cytotoxic T-lymphocyte protein 4 precursor Size : 223 amino acids; 24656 Da
Subcellular location : Membrane; Single-pass type I membrane protein
PDB structures from and Proteopedia : 1AH1 (3D)
 1H6E (3D)
 1I85 (3D)
 1I8L (3D)
 3BX7 (3D)
 
Secondary accessions : Q53TD5 Q8WXJ1 Q96P43 Q9UKN9
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001032720.1 NP_005205.2 ENSEMBL proteins: ENSP00000303939 ENSP00000295854 ENSP00000363594 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6
):
About this table Antibodies for CTLA4: Assays for CTLA4:
Protein
Domains/ Families for CTLA4(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P16410 ProtoNet protein and cluster: P16410
3 Blocks protein families : IPB003596 Immunoglobulin V-type IPB003599 Immunoglobulin subtype IPB008096 Cytotoxic T-lymphocyte antigen 4 signature UniProtKB/Swiss-Prot: CTLA4_HUMAN, P16410 Similarity : Contains 1 Ig-like V-type (immunoglobulin-like) domain
Gene Function for CTLA4
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001037631 Applied Biosystems Silencer ® siRNAs for CTLA4 Sigma-Aldrich siRNA and siRNA Panels for CTLA4 Sigma-Aldrich shRNA Panels and shRNA for CTLA4 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001037631                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001037631                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001037631  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_005214 UniProtKB/Swiss-Prot: CTLA4_HUMAN, P16410 Function : Possibly involved in T-cell activation. Binds to B7-1 (CD80) and B7-2 (CD86)
Genatlas biochemistry entry for CTLA4 :cytotoxic T-lymphocyte-associated granule serine protease 4,B7 costimulatory protein receptor forCD80,CD86,negative regulatory T cell presenting costimulatory molecule,member of theimmunoglobulin superfamily,with an association of the exon 3 microsatellite,106bp allele withautoimmune disorders (conferring susceptibility to Graves disease and to thyroid associatedorbitopathy but not to systemic lupus erythematosus),susceptibility gene for the celiac diseaseand for multiple sclerosis
11 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Ctla4) : Pathways & Interactions for CTLA4
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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3 Sigma-Aldrich "Your Favorite Gene" Pathways for CTLA4 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for CTLA4 5/83 Interacting proteins for CTLA4 (ENSP00000303939 3 ) via UniProtKB, MINT, and/or STRING (see all 83
)About this table 2 Gene Ontology (GO) biological process terms (links to tree view) :
About this table
Drugs & Compounds for CTLA4 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for CTLA4 10/29 Novoseek chemical compound relationships for CTLA4 gene (see all 29
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
mh-30
81.98
3
15841095 (1), 15316504 (1)
ctla4-ig
75.87
17
8228824 (2), 17924973 (2), 7678111 (1), 7504299 (1) (see all 13 )
indoleamine
48.86
4
17981708 (1), 17715231 (1), 18816483 (1), 16493086 (1)
il 10
41.95
7
15607008 (2), 15708894 (1), 18261221 (1), 18337305 (1) (see all 5 )
ionomycin
40.29
12
12444128 (3), 10600000 (2), 10777098 (1), 9857283 (1)
tyrosine
23.30
57
9712716 (6), 9973379 (4), 10604992 (3), 10842319 (3) (see all 27 )
con a
21.52
5
8574169 (1), 12225905 (1)
iodine
21.46
1
18178059 (1)
tgf beta1
17.47
5
19269255 (4), 16872485 (1)
allergens
15.76
3
16701141 (1), 15316504 (1), 10844549 (1)
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Transcripts for CTLA4(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
OriGene , Expression Assays from Applied Biosystems )About This Section
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001037631 Sigma-Aldrich siRNA and siRNA Panels for CTLA4 Sigma-Aldrich shRNA Panels and shRNA for CTLA4 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001037631 NM_005214
REFSEQ mRNAs for CTLA4 gene (2 alternative transcripts): NM_001037631.1 NM_005214.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001037631 NM_005214
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001037631                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001037631                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001037631  
Additional cDNA sequence: AF414120.1 AF486806.1 AJ298052.1 AK313732.1 AY209009.1 AY792514.1 AY999702.1 BC069566.1 BC070162.1 BC074842.2 BC074893.2 DQ785106.1 L15006.1 U90273.1
5 DOTS entries : DT.40126443 DT.91756479 DT.95146339 DT.95133126 DT.99980295
22 AceView cDNA sequences :BG236211 AW207094 AF414120 BC074893 U90273 NM_005214 BC074842 BG058720 AW515943 AI819438 AF486806 BC070162 AY209009 BM997840 BV183431 L15006 CD639535 BC069566 BE837454 BG536887 AA210929 AI860199
highest scoring ESTs for CTLA4 :AI733018 AA873138 AI819438 AI860199 AW207094 AW515943 AY209009 BC069566 BC070162 BG058720
Unigene Cluster for CTLA4: Cytotoxic T-lymphocyte-associated protein 4 Hs.247824 [show with all ESTs ] Unigene Representative Sequence: AF414120 GeneLoc Exon Structure 3 Ensembl transcripts including schematic representations : ENST00000302823
ENST00000295854
ENST00000374470
Expression for CTLA4
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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CTLA4 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for CTLA4 1 / 2 / 3
9 probe-sets matching CTLA4 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TATAATATTTSOURCE GeneReport for Unigene cluster: Hs.247824 UniProtKB/Swiss-Prot: CTLA4_HUMAN, P16410 Tissue specificity : Widely expressed with highest levels in lymphoid tissues
Orthologs for CTLA4
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for CTLA4 gene from 5/6 species (see all 6
)
About this table Species with no ortholog for CTLA4 ENSEMBL Gene Tree for CTLA4 Paralogs for CTLA4 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for CTLA4 gene CD28 2
SNPs/Variants for CTLA4 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for CTLA4 (up to first 250kb)
Disorders & Mutations for CTLA4
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 123890 disorders : 275000 140300 601388 609755 UniProtKB/Swiss-Prot: CTLA4_HUMAN, P16410
Genetic variation in CTLA4 influences susceptibility to systemic lupus erythematosus (SLE)[MIM:152700]. SLE is a chronic, inflammatory and often febrile multisystemic disorder ofconnective tissue. It affects principally the skin, joints, kidneys and serosal membranes. SLE isthought to represent a failure of the regulatory mechanisms of the autoimmune system Genetic variation in CTLA4 may be a cause of susceptibility to Graves disease (GRD)[MIM:275000]. GRD is an autoimmune disorder causing overactivity of the thyroid gland andhyperthyroidism Genetic variation in CTLA4 is the cause of susceptibility to insulin-dependent diabetesmellitus type 12 (IDDM12) [MIM:601388] Genetic variation in CTLA4 is the cause of susceptibility to celiac disease type 3(CELIAC3) [MIM:609755]. Celiac disease [MIM:212750] is a multifactorial disorder of the smallintestine that is influenced by both environmental and genetic factors. It is characterized bymalabsorption resulting from inflammatory injury to the mucosa of the small intestine after theingestion of wheat gluten or related rye and barley proteins. In its classic form, celiac diseaseis characterized in children by malabsorption and failure to thrive Genetic variations in CTLA4 are associated with susceptibility to hepatitis B virusinfection (HBV infection) [MIM:610424]. Approximately one third of all cases of cirrhosis and halfof all cases of hepatocellular carcinoma can be attributed to chronic HBV infection. HBV infectionmay result in subclinical or asymptomatic infection, acute self-limited hepatitis, or fulminanthepatitis requiring liver transplantation
10/92 Novoseek disease relationships for CTLA4 gene (see all 92
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
autoimmune thyroid disease
83.59
55
9861324 (2), 12202150 (2), 17504905 (2), 14647199 (2) (see all 34 )
autoimmune diseases
83.12
226
18613834 (3), 10215771 (3), 15649153 (3), 9861324 (2) (see all 99 )
graves disease
81.87
110
15182328 (4), 10404810 (4), 9231050 (3), 8989248 (3) (see all 57 )
autoimmunity
79.72
70
15790353 (3), 16046318 (2), 18498289 (2), 16026134 (2) (see all 50 )
hashimotos thyroiditis
74.46
32
9398726 (4), 17020648 (3), 16611252 (2), 12225635 (2) (see all 14 )
genetic susceptibility
69.86
48
11752507 (2), 8989248 (2), 16405845 (2), 10619986 (1) (see all 29 )
metastatic melanoma
64.87
27
16283570 (2), 18528295 (2), 16615096 (2), 16490844 (2) (see all 18 )
cancer regression
62.47
5
12826605 (2), 16283570 (1), 18528295 (1)
diabetes mellitus insulin-dependent
55.81
34
10619986 (3), 15961581 (2), 15237707 (2), 19136037 (2) (see all 17 )
hepatitis autoimmune
53.48
15
10613727 (2), 18049163 (2), 15378793 (2), 10807521 (1) (see all 10 )
About this table Human Gene Mutation Database : CTLA4 Genetic Association Database: CTLA4 Human Genome Epidemiology Navigator: CTLA4 (355 documents)
Medical News for CTLA4 (Possibly Related Articles in
Doctor's Guide )
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Publications for CTLA4 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/1093 PubMed articles for CTLA4 gene (see all 1093
): Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus. (PubMed id 15138458) 1, 3, 4, 6 Barreto M.... Vicente A.M. (2004) CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta- analysis. (PubMed id 15688186) 1, 3, 4, 6 Lee Y.H.... Nath S.K. (2005) Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups. (PubMed id 9259273) 1, 3, 4, 6 Marron M.P.... She J.-X. (1997) A common CTLA4 haplotype associated with coeliac disease. (PubMed id 15657618) 3, 4, 6 Hunt K.A.... van Heel D.A. (2005) Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism confers susceptibility to thyroid associated orbitopathy. (PubMed id 10475192) 3, 4, 6 Vaidya B.... Pearce S.H.S. (1999) CTLA-4 gene polymorphism is associated with predisposition to coeliac disease. (PubMed id 10189842) 3, 4, 6 Djilali-Saiah I.... Caillat-Zucman S. (1998) Human Ig superfamily CTLA-4 gene: chromosomal localization and identity of protein sequence between murine and human CTLA-4 cytoplasmic domains. (PubMed id 3220103) 2, 3, 4 Dariavach P.... Lefranc M.-P. (1988) CTLA4 is differentially associated with autoimmune diseases in the Dutch population. (PubMed id 16025348) 1, 3, 6 Zhernakova A....Koeleman B.P. (2005) Polymorphsims of CTLA-4 exon 1 +49, CTLA-4 promoter -318 and Fas promoter -670 in spondyloarthropathies. (PubMed id 11771526) 1, 3, 6 Lee Y.H....Song G.G. (2001) Gender-limited association of cytotoxic T-lymphocyte antigen-4 (CTLA-4) polymorphism with cord blood IgE levels. (PubMed id 15610363) 1, 3, 6 Chang J.C....Yang K.D. (2004)
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Genome Databases showing CTLA4
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing CTLA4
(According to HUGE )
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--
Specialized Databases showing CTLA4 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
Wikipedia http://en.wikipedia.org/wiki/CTLA-4
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-- Services for CTLA4 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for CTLA4:
Search Tocris compounds for CTLA4
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009