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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CTLA4 Gene

protein-coding GIFtS: 64
GCID: GC02P204696

Cytotoxic T-Lymphocyte-Associated Protein 4

(Previous name: celiac disease 3)
(Previous symbol: CELIAC3)

Microbiology & Infectious Diseases Congress

186 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Cytotoxic T-Lymphocyte-Associated Protein 4¹ ²		GSE²
CELIAC3¹ ² ⁵		CD152 Isoform²
Celiac Disease 3¹ ²		Cytotoxic T Lymphocyte Associated Antigen 4 Short Spliced Form²
Cytotoxic T-Lymphocyte-Associated Antigen 4² ³		Cytotoxic T-Lymphocyte Antigen 4²
CD152² ³		Cytotoxic T-Lymphocyte Protein 4²
CTLA-4² ³		Cytotoxic T-Lymphocyte-Associated Serine Esterase-4²
GRD4² ⁵		Ligand And Transmembrane Spliced Cytotoxic T Lymphocyte Associated Antigen 4²
IDDM12² ⁵		CD152 Antigen³
CD²

External Ids:	HGNC: 2505¹	Entrez Gene: 1493²	Ensembl: ENSG00000163599⁷	OMIM: 123890⁵	UniProtKB: P16410³

Export aliases for CTLA4 gene to outside databases

Previous GC identifers: GC02P202949 GC02P203457 GC02P204935 GC02P204558 GC02P204440 GC02P196580

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CTLA4 Gene:

This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T

cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional

splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a

homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene

have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease,

systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. (provided by RefSeq, Jul

2008)

GeneCards Summary for CTLA4 Gene:

CTLA4 (cytotoxic T-lymphocyte-associated protein 4) is a protein-coding gene. Diseases associated with CTLA4 include graves' disease, and celiac disease 3, and among its related super-pathways are Costimulation by the CD28 family and Immune System. GO annotations related to this gene include protein binding. An important paralog of this gene is CD28.

UniProtKB/Swiss-Prot: CTLA4_HUMAN, P16410

Function: Inhibitory receptor acting as a major negative regulator of T-cell responses. The affinity of CTLA4 for its

natural B7 family ligands, CD80 and CD86, is considerably stronger than the affinity of their cognate stimulatory

coreceptor CD28

Gene Wiki entry for CTLA4 (CTLA-4) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NT_005403.17 NC_018913.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CTLA4 gene promoter:
AML1a AP-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CTLA4 promoter sequence

Search SABiosciences Chromatin IP Primers for CTLA4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CTLA4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
CTLA4 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P204696: view genomic region (about GC identifiers)

Start:	204,732,509 bp from pter	End:	204,738,683 bp from pter
Size:	6,175 bases	Orientation:	plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CTLA4_HUMAN, P16410 (See protein sequence)

Recommended Name: Cytotoxic T-lymphocyte protein 4 precursor

Size: 223 amino acids; 24656 Da

Subunit: Homodimer; disulfide-linked. Binds to CD80/B7-1 and CD86/B7.2

Subcellular location: Cell membrane; Single-pass type I membrane protein. Note=Exists primarily an intracellular

antigen whose surface expression is tightly regulated by restricted trafficking to the cell surface and rapid

internalisation;

6/7 PDB 3D structures from and Proteopedia for CTLA4 (see all 7):

1AH1 (3D)

1H6E (3D)

1I85 (3D)

1I8L (3D)

2X44 (3D)

3BX7 (3D)

Secondary accessions: A0N1S0 E9PDH0 O95653 Q0PP65 Q52MC1 Q53TD5 Q5S005 Q8WXJ1 Q96P43 Q9UKN9

Alternative splicing: 5 isoforms: P16410-1 P16410-2 P16410-3 P16410-4 P16410-5

Explore the universe of human proteins at neXtProt for CTLA4: NX_P16410

Explore proteomics data for CTLA4 at MOPED

Post-translational modifications:

UniProtKB: N-glycosylation is important for dimerization

UniProtKB: Phosphorylation at Tyr-201 prevents binding to the AP-2 adapter complex, blocks endocytosis, and leads to retention of

CTLA4 on the cell surface

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P16410

CTLA4 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (2 alternative transcripts):

NP_001032720.1 NP_005205.2

ENSEMBL proteins:

ENSP00000303939 ENSP00000295854 ENSP00000417779 ENSP00000409707

Reactome Protein details: P16410
Human Recombinant Protein Products for CTLA4:

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	Cloud-Clone Corp. Proteins for CTLA4

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005794	Golgi apparatus	IDA	15814706
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	3220103
GO:0009897	external side of plasma membrane	IDA	18641304
GO:0045334	clathrin-coated endocytic vesicle	IDA	15814706

CTLA4 for ontologies About GeneDecksing

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Assay Products for CTLA4:

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	Cloud-Clone Corp. ELISAs for CTLA4 Cloud-Clone Corp. CLIAs for CTLA4

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

CD: CD molecules

VSET: Immunoglobulin superfamily / V-set domain containing

4 InterPro protein domains:

IPR003596 Ig_V-set_subgr

IPR013783 Ig-like_fold

IPR013106 Ig_V-set

IPR008096 CTLA4

Graphical View of Domain Structure for InterPro Entry P16410

ProtoNet protein and cluster: P16410

3 Blocks protein domains:

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

CTLA4 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CTLA4_HUMAN, P16410

Function: Inhibitory receptor acting as a major negative regulator of T-cell responses. The affinity of CTLA4 for its

natural B7 family ligands, CD80 and CD86, is considerably stronger than the affinity of their cognate stimulatory

coreceptor CD28

Genatlas biochemistry entry for CTLA4:

cytotoxic T-lymphocyte-associated granule serine protease 4,B7 costimulatory protein receptor for CD80,CD86,negative

regulatory T cell presenting costimulatory molecule,member of the immunoglobulin superfamily,with an association of

the exon 3 microsatellite,106bp allele with autoimmune disorders (conferring susceptibility to Graves disease and to

thyroid associated orbitopathy but not to systemic lupus erythematosus),susceptibility gene for the celiac disease and

for multiple sclerosis

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	11279501

CTLA4 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for CTLA4:

Increased cell number in G1, a

14 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Ctla4):

cardiovascular system	cellular	digestive/alimentary	endocrine/exocrine gland	hematopoietic system
homeostasis/metabolism	immune system	integument	liver/biliary system	mortality/aging
normal	pigmentation	respiratory system	skeleton

CTLA4 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for CTLA4: Ctla4^tm1All Ctla4^tm1Mak Ctla4^tm1Shr

inGenious Targeting Laboratory - Custom generated mouse model solutions for CTLA4

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CTLA4

miRNA Products:		miRTarBase miRNAs that target CTLA4: hsa-mir-155 (MIRT004436)


		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CTLA4
		8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate CTLA4 (see all 14):
		hsa-miR-4324 hsa-miR-502-5p hsa-miR-4311 hsa-miR-3688-3p hsa-miR-4255 hsa-miR-496 hsa-miR-656 hsa-miR-544b

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTLA4

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for CTLA4 About (see all 10)

See pathways by source

SuperPath

Contained pathways About

CD28 co-stimulation

Costimulation by the CD28 family

0.41

CTLA4 Signaling

0.31

Immune System

Immune System

0.56

Adaptive Immune System

0.56

PKC-Theta Pathway

TCR Signaling

0.68

ICos-ICosL Pathway in T-Helper Cell

CD28 Signaling in T-Helper Cell

0.66

Allograft rejection

Autoimmune thyroid disease

0.62

Pathways by source See SuperPaths
Show all pathways

3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CTLA4

	CTLA4 Signaling
	TCR Signaling
	CD28 Signaling in T-Helper Cell

1 BioSystems Pathway for CTLA4

Calcineurin-regulated NFAT-dependent transcription in lymphocytes

4 Reactome Pathways for CTLA4

	Costimulation by the CD28 family
	Adaptive Immune System
	CTLA4 inhibitory signaling
	Immune System

4 Kegg Pathways (Kegg details for CTLA4):

	Cell adhesion molecules (CAMs)
	T cell receptor signaling pathway
	Autoimmune thyroid disease
	Rheumatoid arthritis

CTLA4 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CTLA4

STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

5/24 Interacting proteins for CTLA4 (P16410^{1, 2, 3} ENSP00000303939⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 24)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PIK3R1	P27986²^,³, ENSP00000274335⁴	MINT-8035246 MINT-8035216 MINT-8035201 I2D: score=2 STRING: ENSP00000274335
CD86	P42081¹^,³, ENSP00000332049⁴	EBI-1030991,EBI-1030956 I2D: score=3 STRING: ENSP00000332049
CD80	P33681¹^,³, ENSP00000264246⁴	EBI-1030991,EBI-1031024 I2D: score=4 STRING: ENSP00000264246
FYN	P06241³, ENSP00000357656⁴	I2D: score=4 STRING: ENSP00000357656
LCK	P06239³, ENSP00000337825⁴	I2D: score=2 STRING: ENSP00000337825

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006955	immune response	IEA	--
GO:0006974	response to DNA damage stimulus	IMP	17875758
GO:0030889	negative regulation of B cell proliferation	IMP	17875758
GO:0031295	T cell costimulation	TAS	--
GO:0043065	positive regulation of apoptotic process	IMP	17875758

CTLA4 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CTLA4 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CTLA4

UniProtKB/Swiss-Prot: CTLA4_HUMAN, P16410

Pharmaceutical: Engineered fusion proteins consisting of the extracellular domain of CTLA4 and the IgG Fc region

(Ctla4-Ig), inhibit T-cell-dependent antibody responses, and are used as immunosuppressive agents. They are soluble,

have an enhanced affinity for B7 ligands and act as a competitive inhibitor of CD28

1 DrugBank Compound for CTLA4 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Alpha-D-Mannose	--	3458-28-4	target	--	17139284 17016423

10/50 Novoseek inferred chemical compound relationships for CTLA4 gene (see all 50) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mh-30	81.1	3	15841095 (1), 15316504 (1)
abatacept	77.4	32	18050376 (2), 18718877 (1), 19243211 (1), 19259798 (1) (see all 13)
ctla4-ig	74.7	17	8228824 (2), 17924973 (2), 7678111 (1), 7504299 (1) (see all 13)
belatacept	63	3	16121705 (1), 20502720 (1)
indoleamine	45.9	4	17981708 (1), 17715231 (1), 18816483 (1), 16493086 (1)
il 10	42.3	7	15607008 (2), 15708894 (1), 18261221 (1), 18337305 (1) (see all 5)
ionomycin	38.2	12	12444128 (3), 10600000 (2), 10777098 (1), 9857283 (1)
tyrosine	27.9	60	9712716 (6), 9973379 (4), 10604992 (3), 10842319 (3) (see all 29)
tgf beta1	21.3	6	19269255 (4), 19597336 (1), 16872485 (1)
infliximab	18.8	1	19104936 (1)

Search CenterWatch for drugs/clinical trials and news about CTLA4

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CTLA4 gene (2 alternative transcripts):

NM_001037631.2 NM_005214.4

Unigene Cluster for CTLA4:

Cytotoxic T-lymphocyte-associated protein 4

Hs.247824 [show with all ESTs]

Unigene Representative Sequence: NM_005214

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000302823(uc002vak.2 uc002val.2 uc010fty.2 uc010ftz.2)

ENST00000295854 ENST00000487393 ENST00000472206 ENST00000427473

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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Additional mRNA 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:

AW515943 BC074893 U90273 AF486806 AW207094 NM_005214 BG236211 AF414120

AI819438 BC074842 BG058720 AY209009 BC070162 CD639535 BC069566 L15006

BV183431 BM997840 BE837454 BG536887 AA210929 AI860199

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CTLA4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TATAATATTT

About this image

See CTLA4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CTLA4

SOURCE GeneReport for Unigene cluster: Hs.247824

UniProtKB/Swiss-Prot: CTLA4_HUMAN, P16410

Tissue specificity: Widely expressed with highest levels in lymphoid tissues. Detected in activated T-cells where

expression levels are 30- to 50-fold less than CD28, the stimulatory coreceptor, on the cell surface following

activation

SABiosciences Expression via Pathway-Focused PCR Arrays including CTLA4:

Cell Surface Markers in human mouse rat

Th1/Th2 Response in human mouse rat

T-cell & B-cell Activation in human mouse rat

T-Cell Anergy & Immune Tolerance in human mouse rat

Diabetes in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTLA4

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CTLA4 gene from 4/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ctla4^{1 , 5}	cytotoxic T-lymphocyte-associated protein 4^{1, 5}	79.97(n)¹ 74.89(a)¹		1 (30.58 cM)⁵ 12477¹ NM_009843.3¹ NP_033973.2¹ 60887000⁵
chicken (Gallus gallus)	Aves	CTLA4¹	cytotoxic T-lymphocyte-associated protein 4	60.85(n) 49.23(a)		424106 NM_001040091.1 NP_001035180.1
lizard (Anolis carolinensis)	Reptilia	-- --	Uncharacterized protein	34(a) 31(a)	many → 1 many → 1	AAWZ02040505(955-5793) GL343208.1(2684025-2687950)
zebrafish (Danio rerio)	Actinopterygii	cd28⁶	CD28 molecule	24(a)	1 → many	9(14262659-14265291)

ENSEMBL Gene Tree for CTLA4 (if available)
TreeFam Gene Tree for CTLA4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CTLA4 gene

CD28²

CTLA4 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: CTLA4_HUMAN, P16410

Polymorphism: Genetic variations in CTLA4 are associated with susceptibility to several autoimmune disorders. They

influence responsiveness to hepatitis B virus (HBV) infection [MIM:610424]

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs231775^1,2,4	C,F,O,A,H	other¹	204122578(+)	`TGGCTA/GCCAGG`	4	T A	mis¹ ese³		39		EA NA MN NS CSA WA EU	11608
rs35832561^1,2	F	--	204120564(+)	`TGCTCA/GTCCCC`	2	--	us2k¹		5		MN	404
rs13410149^1,2	C,H	--	204120624(+)	`CTTTAG/ACCCAT`	2	--	us2k¹		9		NS EA MN	824
rs147267715^1,2		--	204120657(+)	`CCACCC/TTTTTC`	2	--	us2k¹		0	--	--	--	--
rs733619^1,2	C,F,H	--	204120669(-)	`ATTGAG/CAACAG`	2	--	us2k¹		16		NS EA NA MN CSA WA	1585
rs36021810^1,2	F	--	204120692(+)	`CTTTTC/TGTCTT`	2	--	us2k¹		5		MN	404
rs3087241^1,2	C,H	--	204120755(+)	`TACATA/GATACT`	2	--	us2k¹		9		MN NS EA	824
rs11571315^1,2	C,F,H	--	204120765(-)	`ctggaG/Attgaa`	2	--	us2k¹		30		NS EA NA MN WA CSA	2732
rs733618^1,2	C,F,A,H	--	204120808(-)	`GACAGA/GCAGCT`	2	--	us2k¹		21		NS EA NA MN WA	2742
rs4553808^1,2	C,F,A,H	--	204120869(+)	`TTTTTA/GAAAAA`	2	--	us2k¹		14		MN NS EA NA WA	1014
rs188607442^1,2		--	204120933(+)	`TTGGCC/GCTTGA`	2	--	us2k¹		0	--	--	--	--
rs11571316^1,2	C,F,H	--	204120953(-)	`AGAAAC/TCTTCA`	2	--	us2k¹		25		NA NS EA MN CSA WA	2437
rs115552468^1,2	F	--	204120992(+)	`GCAGGT/ACAGAA`	2	--	us2k¹		1		WA	118
rs181481382^1,2		--	204121039(+)	`TACATA/GTGTAA`	2	--	us2k¹		0	--	--	--	--
rs62182595^1,2	C,F	--	204121052(+)	`AATCTG/ACATGT`	2	--	us2k¹		6		NA WA EA	248
rs231771^1,2	C	--	204121104(+)	`AATTTA/TAAAAA`	2	--	us2k¹ tfbs³		6		NA WA EA	246
rs16840252^1,2	C,F,H	--	204121383(+)	`ATGGAC/TGGACT`	2	--	us2k¹		32		NA NS EA WA	3332
rs231772^1,2	C,F,H	--	204121417(+)	`CTGTTG/ACAACT`	2	--	us2k¹		23		NS EA NA WA CSA	1888
rs185971650^1,2		--	204121477(+)	`TTTTTG/TTTTTG`	2	--	us2k¹		0	--	--	--	--
rs231773^1,2	C,F,O,H	--	204121536(+)	`CCCATA/GAATGT`	2	--	us2k¹ tfbs³		20		NS EA NA WA CSA	1602
rs190364914^1,2		--	204121643(+)	`CTGTCA/TCAAAT`	2	--	us2k¹		0	--	--	--	--
rs11571317^1,2	C,F,H	--	204121872(+)	`TTTTCC/TGCCTA`	2	--	us2k¹ trp³		21		MN NS EA NA	2374
rs231774^1,2	C,F,O,A,H	--	204122087(+)	`TGGAGA/TTGTCA`	2	--	us2k¹ tfbs³		32		NA MN NS EA WA CSA	2291
rs5742909^1,2	C,F,H	--	204122211(+)	`ATCCTC/TAAAGT`	2	--	us2k¹		30		NS NA MN EA	4106
rs201778935^1,2	C	--	204122551(+)	`TTCAGC/TGGCAC`	4	R W	mis¹		0	--	--	--	--
rs138279736^1,2	C	--	204122552(+)	`TCAGCG/AGCACA`	4	/Q /R	mis¹		1		NA	4548
rs16840275^1,2	C,F	--	204122604(+)	`CTCCTG/CTTTTT`	4	/L	syn¹ ese³		6		NA WA	4814
rs231776^1,2	C,F,H	--	204122714(+)	`GTCAAG/AGGCAG`	2	--	int¹		31		EA NA NS WA CSA	2149
rs182554438^1,2		--	204122734(+)	`GCAAAA/GCCAGA`	2	--	int¹		0	--	--	--	--
rs187201888^1,2		--	204122862(+)	`TAGTAA/GGGGCT`	2	--	int¹		0	--	--	--	--
rs140842959^1,2		--	204122928(+)	`CTATGA/GGACTG`	2	--	int¹		0	--	--	--	--
rs117492436^1,2	F	--	204122962(+)	`TAGCCA/TTAGTC`	2	--	int¹		1		EA	120
rs144795106^1,2		--	204123084(+)	`GTCCTC/TGGATT`	2	--	int¹		0	--	--	--	--
rs190838764^1,2		--	204123198(+)	`ATTCTA/CCTAGC`	2	--	int¹		0	--	--	--	--
rs149392730^1,2	C	--	204123243(+)	`TTGCC-/AAAAAA`	2	--	int¹		0	--	--	--	--
rs182356877^1,2		--	204123356(+)	`GTTTTC/TAGCTC`	2	--	int¹		0	--	--	--	--
rs147514192^1,2		--	204123396(+)	`GGCTTA/CAAATG`	2	--	int¹		0	--	--	--	--
rs185654189^1,2	C	--	204123411(+)	`GTATAA/TCCATT`	2	--	int¹		0	--	--	--	--
rs231777^1,2	C,F,O,A,H	--	204123452(+)	`CTTGGC/TTAAGA`	2	--	int¹		25		NA NS EA WA CSA	2270
rs190363127^1,2		--	204123590(+)	`CTCTTA/TGAAGT`	2	--	int¹		0	--	--	--	--
rs231778^1,2	C,F,O,H	--	204123685(+)	`GTGATA/GAGTGT`	2	--	int¹		20		NA NS EA WA CSA	938
rs35219727^1,2	C,F	--	204123913(+)	`AGGATG/ACTCAG`	2	--	int¹		6		MN EA	524
rs3087242^1,2	C	--	204123949(+)	`AGGGTA/C/G/T AGGGA`	2	--	int¹		5		MN	404
rs183036274^1,2		--	204124081(+)	`TCTCTA/TATATA`	2	--	int¹		0	--	--	--	--
rs115832527^1,2	F	--	204124179(+)	`TATTTA/GTTGTA`	2	--	int¹		1		WA	118
rs231779^1,2	C,F,O,A,H	--	204124351(+)	`GCAAGC/TCTCTC`	2	--	int¹		22		NS EA NA WA	2552
rs75339524^1,2	F	--	204124465(+)	`TCAGGG/AGAAGC`	2	--	int¹		1		WA	118
rs148575091^1,2		--	204124528(+)	`GCCCTC/TGGCTC`	2	--	int¹		0	--	--	--	--
rs142975926^1,2		--	204124588(+)	`GAAGGC/TGGAGG`	2	--	int¹		0	--	--	--	--
rs188823513^1,2	C	--	204124610(+)	`CATCAA/GGACAC`	2	--	int¹		0	--	--	--	--
rs151127713^1,2		--	204124628(+)	`CCTGGA/GTGACA`	2	--	int¹		0	--	--	--	--
rs145606860^1,2	C	--	204124751(+)	`TCCGG-/AGC TATATAGCTC`	2	--	int¹		0	--	--	--	--
rs140690384^1,2		--	204124810(+)	`ATCTCA/CTCTAA`	2	--	int¹		0	--	--	--	--
rs145746390^1,2	C	--	204124952(+)	`GAATC-/TTATTT`	2	--	int¹		0	--	--	--	--
rs192924632^1,2		--	204124963(+)	`CTCAGC/TAAGAA`	2	--	int¹		0	--	--	--	--
rs183868708^1,2		--	204125005(+)	`TTGAGA/GGATGG`	2	--	int¹		0	--	--	--	--
rs149674062^1,2		--	204125041(+)	`GGAAGA/GGGTAA`	2	--	int¹		0	--	--	--	--
rs55657178^1,2	C	--	204125065(+)	`TGAAGC/GGGGGA`	2	--	int¹		0	--	--	--	--
rs140298725^1,2		--	204125069(+)	`GGGGGC/GAGAAA`	2	--	int¹		0	--	--	--	--
rs56387603^1,2	C,F	--	204125080(+)	`AGGCCG/ATGGGG`	2	--	int¹		1		EA	120
rs200180357^1,2		--	204125166(+)	`TTTCCA/GTGCTA`	2	--	int¹		0	--	--	--	--
rs199943943^1,2	C	--	204125279(+)	`GTGACA/GTGCTT`	4	T	syn¹		1		EU	1323
rs1065442^1,2	C,H	--	204125335(+)	`CATGAT/CGGGGA`	4	/T /M	mis¹		10		MN NS EA	990
rs144988077^1,2	C	--	204125389(+)	`CAGTGG/AAAATC`	4	/E /G	mis¹		1		NA	4552
rs188862082^1,2	C	--	204125474(+)	`CCACCA/GCCATA`	4	P	syn¹		0	--	--	--	--
rs41265959^1,2	C	--	204125544(+)	`CTGAGC/TTGACA`	2	--	int¹		0	--	--	--	--
rs202187877^1,2		--	204125558(+)	`GTTGCA/GTTGCA`	2	--	int¹		0	--	--	--	--
rs73993040^1,2	C,F	--	204125674(+)	`ATTGTG/TGGTGG`	2	--	int¹		3		WA CSA	122
rs41265961^1,2	C,F	--	204125725(+)	`GGGAAG/ATTGGG`	2	--	int¹		1		NA	120
rs113505692^1,2	C	--	204125785(+)	`ATATGT/ATATGA`	2	--	int¹		1		CSA	1
rs138029887^1,2		--	204125818(+)	`AATAGC/TCAAAC`	2	--	int¹		0	--	--	--	--
rs201300281^1,2		--	204125921(+)	`TAGAGC/TTTAAA`	2	--	int¹		0	--	--	--	--
rs200271600^1,2	C	--	204125941(+)	`GGGAGG/TCTCTG`	2	--	int¹		0	--	--	--	--
rs200657280^1,2	C	--	204125975(+)	`GAACCG/ATGCCC`	3	/P	syn¹ int¹		1		EU	1323
rs199659316^1,2		--	204126056(+)	`ACAGCC/TGTTTC`	3	A	syn¹ int¹		0	--	--	--	--
rs55806747^1,2	C	--	204126214(+)	`AGAACA/GCACTA`	2	--	int¹		0	--	--	--	--
rs79971295^1,2		--	204126224(+)	`AGAACC/TGTAGG`	2	--	int¹		0	--	--	--	--
rs138160778^1,2	C	--	204126360(+)	`TGCTC-/TTTGTCT`	2	--	int¹		0	--	--	--	--
rs188456452^1,2		--	204126451(+)	`GATGGC/TCTTTA`	2	--	int¹		0	--	--	--	--
rs231780^1,2	C,H	--	204126561(+)	`TCCCTA/GTTATC`	2	--	int¹		21		EA NA NS WA CSA	815
rs11571324^1,2	C,F,H	--	204126724(-)	`CAGAGG/TTGTCT`	2	--	int¹		4		NS EA	414
rs231781^1,2	C,A,H	--	204126751(+)	`CCATTG/ACAAAC`	2	--	int¹		17		EA NA WA CSA	428
rs184294545^1,2		--	204126804(+)	`TTCTCA/GCTCTT`	2	--	int¹		0	--	--	--	--
rs114352937^1,2	F	--	204126851(+)	`ACATAC/TACAAA`	2	--	int¹		1		NA	120
rs190067755^1,2		--	204126865(+)	`ATACTC/TTATTC`	2	--	int¹		0	--	--	--	--
rs181723616^1,2	C	--	204126868(+)	`CTCTAC/TTCCAA`	2	--	int¹		0	--	--	--	--
rs115395872^1,2	F	--	204126880(+)	`ATCCTC/GTACCC`	2	--	int¹		1		NA	120
rs143179855^1,2		--	204127006(+)	`TTGATC/TAATTA`	2	--	int¹		0	--	--	--	--
rs148281316^1,2		--	204127077(+)	`ATTCAA/GGGCAA`	2	--	int¹		0	--	--	--	--
rs11571318^1,2	C,F,H	--	204127185(-)	`GAATGT/CTCACA`	2	--	int¹		4		NS EA	414
rs74808460^1,2	C	--	204127342(+)	`ATGCCC/GCCAAC`	4	P A	syn¹ mis¹		0	--	--	--	--
rs34162447^1,2	C,F	--	204127433(+)	`TTTCAA/GTTTCC`	2	--	ut3¹		5		MN	400
rs56102377^1,2	C,F	--	204127499(+)	`CATTTG/AGGGGG`	2	--	ut3¹		1		EA	120
rs56083753^1,2	C	--	204127667(+)	`TTATGA/GTGTGG`	2	--	ut3¹		0	--	--	--	--
rs13384548^1,2	C,F,H	--	204127774(+)	`GAGACG/ATTTAT`	2	--	ut3¹ ese³		4		NS EA	396
rs35411154^1,2	C,F	--	204127850(+)	`TCAAGG/CCTTCA`	2	--	ut3¹		5		MN	400
rs180789983^1,2		--	204127941(+)	`TGATAA/GTATTG`	2	--	ut3¹		0	--	--	--	--
rs139105990^1,2	C	--	204128006(+)	`TATATA/GGCAGT`	2	--	ut3¹		0	--	--	--	--
rs55696217^1,2	C	--	204128399(+)	`TGAAGA/GTTTCT`	2	--	ut3¹		0	--	--	--	--
rs190211458^1,2		--	204128412(+)	`AAATTA/TACACT`	2	--	ut3¹		0	--	--	--	--
rs231721^1,2	C,F,H	--	204128547(+)	`GTGTTT/CAAATT`	2	--	ds500¹		30		NS EA MN NA WA CSA	2382
rs35482731^1,2	C,F	--	204128691(+)	`GGAAGG/CTATCC`	2	--	ds500¹		5		MN	396
rs182533364^1,2		--	204128700(+)	`CCATCC/TTCTTT`	2	--	ds500¹		0	--	--	--	--
rs139354616^1,2		--	204128706(+)	`TCTTTC/GCTTTT`	2	--	ds500¹		0	--	--	--	--
rs34031880^1,2	C,F	--	204128710(+)	`TCCTTT/CTGATT`	2	--	ds500¹		6		MN WA	514
rs3087243^1,2	C,F,O,H	--	204128741(+)	`ATAACG/ATGGGT`	2	--	ds500¹		30		NS EA NA MN CSA WA	4045
rs11571319^1,2	C,F,H	--	204128760(-)	`GACTGC/TTATGT`	2	--	ds500¹		17		MN NS EA NA WA	1152
rs142863133^1,2	C	--	204738051(+)	`TATAC-/ATATATATATATATATATAT ATATATATATATATATATATATATATA`	2	--	cds¹		0	--	--	--	--
rs59665421^1,2	C	--	204738092(+)	`ATATAC/TATATA`	2	--	ut3¹		1		NA	2
rs67181450^1,2	C	--	204738106(+)	`TATAT-/ATATATATATATATATATAT ATATATATATATATATATATATTTTAA`	2	--	cds¹		1		NA	2
rs376571886^1,2	--	--	204125134(+)	`AGGAGC/TATGAG`	2	--	int¹		0	--	--	--	--
rs66857345^1,2	--	--	204738043(+)	`ATTGC-/ATAT ATACATATATA`	2	--	ut3¹		0	--	--	--	--
rs113528941^1,2	--	--	204124321(+)	`TTGGCA/GTGCAG`	2	--	int¹		0	--	--	--	--
rs372230996^1,2	--	--	204122670(+)	`ATGGAG/TGAGGT`	2	--	int¹		0	--	--	--	--
rs372940614^1,2	--	--	204124742(+)	`CATTAC/TAGTTC`	2	--	int¹		0	--	--	--	--
rs111771307^1,2	--	--	204124505(+)	`CCTAGA/-AGAGG`	2	--	int¹		1		CSA	2
rs147679342^1,2	--	--	204125453(+)	`TGCAAG/AGTGGA`	4	/K	syn¹		1		NA	4552
rs367760388^1,2	--	--	204127391(+)	`TTCCCA/GTCAAT`	3	I V	mis¹ ut3¹		0	--	--	--	--
rs370224520^1,2	--	--	204127741(+)	`AGACTA/GTATTG`	2	--	ut3¹		0	--	--	--	--
rs372830774^1,2	--	--	204125046(+)	`GGGTAA/GTGATA`	2	--	int¹		0	--	--	--	--
rs370517673^1,2	--	--	204127393(+)	`CCCATC/TATTGA`	3	I	syn¹ ut3¹		0	--	--	--	--
rs112640013^1,2	--	--	204126101(+)	`CACCAC/TGTCTG`	2	--	int¹		0	--	--	--	--
rs373219319^1,2	--	--	204127425(+)	`AGTCCA/GTATTT`	2	--	ut3¹		0	--	--	--	--
rs146571801^1,2	--	--	204126053(+)	`CTCACA/TGCTGT`	3	T	syn¹ int¹		1		NA	4550
rs139154557^1,2	--	--	204125309(+)	`GTGACT/CGAAGT`	4	/T	syn¹		1		NA	4552
rs112593251^1,2	--	--	204124529(+)	`CCCTCA/GGCTCT`	2	--	int¹		0	--	--	--	--
rs199912925^1,2	--	--	204126072(+)	`GCAAAA/GTGGTG`	3	M V	mis¹ int¹		0	--	--	--	--
rs367910852^1,2	--	--	204123116(+)	`AGCCAC/GTTGTT`	2	--	int¹		0	--	--	--	--
rs59387738^1,2	--	--	204128717(+)	`GATTTC/TTTCAC`	2	--	ds500¹		0	--	--	--	--
rs376591332^1,2	--	--	204122571(+)	`CTGAAC/TCTGGC`	4	N	syn¹		0	--	--	--	--
rs370681295^1,2	--	--	204127728(+)	`GGAGCA/GGGGAG`	2	--	ut3¹		0	--	--	--	--
rs376537840^1,2	--	--	204122687(+)	`CCTACC/TGGGTT`	2	--	int¹		0	--	--	--	--
rs368427057^1,2	--	--	204125532(+)	`AAAGCC/TATTTC`	2	--	int¹		0	--	--	--	--
rs370443546^1,2	--	--	204125331(+)	`CCTACA/GTGATG`	4	M V	mis¹		0	--	--	--	--
rs374743192^1,2	--	--	204733184(+)	`TTTTT-/TGCTAT`	2	--	int¹		0	--	--	--	--
rs375949600^1,2	--	--	204126023(+)	`AGTTCA/GGGGTT`	3	S	syn¹ int¹		0	--	--	--	--
rs376644587^1,2	--	--	204124880(+)	`ATCACA/GATTTC`	2	--	int¹		0	--	--	--	--
rs201801137^1,2	--	--	204738051(+)	`TATAC-/ATATATATATA TATATATATATATATATA`	2	--	cds¹		0	--	--	--	--
rs373393185^1,2	--	--	204125234(+)	`TTTGTA/GTGTGA`	4	V	syn¹		0	--	--	--	--
rs60872763^1,2	--	--	204738101(+)	`TATAT-/ATATAT TTTAA`	2	--	cds¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CTLA4 (204732509 - 204738683 bp)

Structural Variations
Database of Genomic Variants (DGV) variations for CTLA4: --

Human Gene Mutation Database (HGMD): CTLA4

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CTLA4

DNA2.0 Custom Variant and Variant Library Synthesis for CTLA4

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CTLA4 for disorders           About GeneDecksing

OMIM gene information: 123890
OMIM disorders: 140300  601388  609755
UniProtKB/Swiss-Prot: CTLA4_HUMAN, P16410

Systemic lupus erythematosus (SLE) [MIM:152700]: A chronic, relapsing, inflammatory, and often febrile

multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and

serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of

the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte

sedimentation rate, and the formation of LE cells in the blood or bone marrow. Note=Disease susceptibility is

associated with variations affecting the gene represented in this entry

Note=Genetic variations in CTLA4 may influence susceptibility to Graves disease, an autoimmune disorder

associated with overactivity of the thyroid gland and hyperthyroidism

Diabetes mellitus, insulin-dependent, 12 (IDDM12) [MIM:601388]: A multifactorial disorder of glucose

homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical

features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and

secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and

blood vessels. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

Celiac disease 3 (CELIAC3) [MIM:609755]: A multifactorial, chronic disorder of the small intestine caused by

intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal

absorption, and malnutrition. In predisposed individuals, the ingestion of gluten-containing food such as wheat and

rye induces a flat jejunal mucosa with infiltration of lymphocytes. Note=Disease susceptibility is associated with

variations affecting the gene represented in this entry

20/186 diseases for CTLA4 (see all 186): About MalaCards

graves' disease celiac disease 3 paracoccidioidomycosis celiac disease

autoimmune hepatitis wegener's granulomatosis allergic encephalomyelitis cd40 ligand deficiency

diabetic ketoacidosis autoimmune thyroiditis diabetes mellitus primary biliary cirrhosis

myxedema autoimmune myocarditis type 1 diabetes mellitus addison's disease

blood disorders hypothyroidism, autoimmune type 1 diabetes myasthenia gravis

9 diseases from the University of Copenhagen DISEASES database for CTLA4:

Hypersensitivity reaction type II disease Melanoma Hyperthyroidism Thyroiditis

Rheumatoid arthritis Diabetes mellitus Connective tissue disease Multiple sclerosis

Asthma

Congresses - knowledge worth sharing:
The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

10/93 Novoseek inferred disease relationships for CTLA4 gene (see all 93) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
autoimmune thyroid disease	84.6	60	9861324 (2), 12202150 (2), 17504905 (2), 19559744 (2) (see all 38)
autoimmune diseases	84.2	258	18613834 (3), 10215771 (3), 15649153 (3), 9861324 (2) (see all 99)
graves disease	82.3	122	19524188 (4), 15182328 (4), 10404810 (4), 9231050 (3) (see all 63)
autoimmunity	80.1	83	19595177 (4), 15790353 (3), 16046318 (2), 19412189 (2) (see all 56)
hashimotos thyroiditis	75.3	38	9398726 (4), 17020648 (3), 16611252 (2), 12225635 (2) (see all 16)
genetic susceptibility	70.3	54	11752507 (2), 8989248 (2), 16405845 (2), 10619986 (1) (see all 35)
metastatic melanoma	68.3	31	16283570 (2), 18528295 (2), 16490844 (2), 16615096 (2) (see all 22)
cancer regression	64	5	12826605 (2), 16283570 (1), 18528295 (1)
addisons disease	58.8	22	9398726 (4), 10197076 (3), 15240634 (2), 15621571 (1) (see all 9)
diabetes mellitus insulin-dependent	55.4	37	10619986 (3), 15961581 (2), 15237707 (2), 19136037 (2) (see all 19)

Genetic Association Database (GAD): CTLA4
Human Genome Epidemiology (HuGE) Navigator: CTLA4 (525 documents)

Export disorders for CTLA4 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CTLA4 gene, integrated from 9 sources (see all 1496):
(articles sorted by number of sources associating them with CTLA4)

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world of online information

CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta- analysis. (PubMed id 15688186)^{1, 2, 4, 9} Lee Y.H.... Nath S.K. (2005)
Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus. (PubMed id 15138458)^{1, 2, 4, 9} Barreto M.... Vicente A.M. (2004)
Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups. (PubMed id 9259273)^{1, 2, 4, 9} Marron M.P.... She J.-X. (1997)
A common CTLA4 haplotype associated with coeliac disease. (PubMed id 15657618)^{1, 2, 4} Hunt K.A.... van Heel D.A. (2005)
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. (PubMed id 12724780)^{1, 2, 4} Ueda H....Gough S.C. (2003)
Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism confers susceptibility to thyroid associated orbitopathy. (PubMed id 10475192)^{1, 2, 4} Vaidya B.... Pearce S.H.S. (1999)
CTLA-4 gene polymorphism is associated with predisposition to coeliac disease. (PubMed id 10189842)^{1, 2, 4} 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)^{1, 2, 3} Dariavach P.... Lefranc M.-P. (1988)
Expression of CD152 (CTLA-4) in children with autoimm une thyroiditis and +49 A/G polymorphism of exon 1 of the CTLA-4 gene. (PubMed id 20134044)^{1, 4, 9} Kucharska A.M....Demkow U. (2009)
CTLA4 is differentially associated with autoimmune diseases in the Dutch population. (PubMed id 16025348)^{1, 4, 9} Zhernakova A....Koeleman B.P. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1493	HGNC: 2505	AceView: CTLA4	Ensembl:ENSG00000163599	euGenes: HUgn1493
ECgene: CTLA4	Kegg: 1493	H-InvDB: CTLA4

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CTLA4	Pharmacogenomics, SNPs, Pathways
Wikipedia	http://en.wikipedia.org/wiki/CTLA-4

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Cytotoxic T-Lymphocyte-Associated Protein 4

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CTLA4 Gene

Cytotoxic T-Lymphocyte-Associated Protein 4

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