CTLA4 Gene (Protein Coding)

Cytotoxic T-Lymphocyte Associated Protein 4

GC02P203867
GIFtS:
47
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 dis... See more...

Aliases for CTLA4 Gene

Aliases for CTLA4 Gene

  • Cytotoxic T-Lymphocyte Associated Protein 4 2 3 5
  • Insulin-Dependent Diabetes Mellitus 12 2 3
  • Cytotoxic T-Lymphocyte Protein 4 3 4
  • Celiac Disease 3 2 3
  • CTLA-4 3 4
  • CD152 3 4
  • Ligand And Transmembrane Spliced Cytotoxic T Lymphocyte Associated Antigen 4 3
  • Cytotoxic T Lymphocyte Associated Antigen 4 Short Spliced Form 3
  • Cytotoxic T-Lymphocyte-Associated Serine Esterase-4 3
  • Cytotoxic T-Lymphocyte-Associated Antigen 4 4
  • CD152 Isoform 3
  • CD152 Antigen 4
  • CELIAC3 3
  • IDDM12 3
  • ALPS5 3
  • GRD4 3
  • GSE 3
  • CD 3

External Ids for CTLA4 Gene

Previous HGNC Symbols for CTLA4 Gene

  • CELIAC3
  • IDDM12

Previous GeneCards Identifiers for CTLA4 Gene

  • GC02P202949
  • GC02P203457
  • GC02P204696
  • GC02P204935
  • GC02P204558
  • GC02P204440
  • GC02P196580

Summaries for CTLA4 Gene

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]

CIViC Summary for CTLA4 Gene

GeneCards Summary for CTLA4 Gene

CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4) is a Protein Coding gene. Diseases associated with CTLA4 include Autoimmune Lymphoproliferative Syndrome, Type V and Celiac Disease 3. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and T cell receptor signaling pathway. An important paralog of this gene is CD28.

UniProtKB/Swiss-Prot Summary for CTLA4 Gene

  • 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 Gene

Additional gene information for CTLA4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CTLA4 Gene

Genomics for CTLA4 Gene

GeneHancer (GH) Regulatory Elements for CTLA4 Gene

Promoters and enhancers for CTLA4 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02J203867 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 756.3 +2.0 1961 5.1 JUND ETV6 RELA CREM ZBED1 TRIM22 IKZF2 CBFB SCRT2 EED CTLA4 HSALNG0021699 KRT18P39 piR-52008-011
GH02J203704 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 32.4 -159.7 -159708 7.8 SP1 HLF RELA POLR2A CEBPG CREM IKZF1 CEBPA BACH1 ZNF512 CD28 ICOS CTLA4 RNU6-474P NBEAL1 KRT18P39 ENSG00000228513 HSALNG0021688
GH02J204023 Enhancer 0.9 FANTOM5 Ensembl ENCODE 21.6 +156.5 156530 2.2 CTCF RAD21 SMC3 RCOR1 ZNF664 ICOS CTLA4 CD28 RF00017-3411 piR-53029-065
GH02J203936 Promoter/Enhancer 1.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.9 +70.9 70930 5.4 MLLT1 POLR2A ICOS CD28 CTLA4 LOC101927840
GH02J203885 Enhancer 0.8 Ensembl ENCODE dbSUPER 16.9 +24.4 24429 14.8 PKNOX1 CEBPB BATF MAFK ZNF146 CTLA4 HSALNG0021702 piR-52008-011
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTLA4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CTLA4 gene promoter:
  • AML1a
  • AP-1

Genomic Locations for CTLA4 Gene

Genomic Locations for CTLA4 Gene
chr2:203,867,771-203,873,965
(GRCh38/hg38)
Size:
6,195 bases
Orientation:
Plus strand
chr2:204,732,509-204,738,683
(GRCh37/hg19)
Size:
6,175 bases
Orientation:
Plus strand

Genomic View for CTLA4 Gene

Genes around CTLA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTLA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTLA4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CTLA4 Gene

Proteins for CTLA4 Gene

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  • Protein details for CTLA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16410-CTLA4_HUMAN
    Recommended name:
    Cytotoxic T-lymphocyte protein 4
    Protein Accession:
    P16410
    Secondary Accessions:
    • A0N1S0
    • E9PDH0
    • O95653
    • Q0PP65
    • Q52MC1
    • Q53TD5
    • Q5S005
    • Q8WXJ1
    • Q96P43
    • Q9UKN9

    Protein attributes for CTLA4 Gene

    Size:
    223 amino acids
    Molecular mass:
    24656 Da
    Quaternary structure:
    • Homodimer; disulfide-linked (PubMed:11279501, PubMed:11279502, Ref.23, PubMed:21156796, PubMed:28484017). Binds to CD80/B7-1 and CD86/B7.2 (PubMed:11279501, PubMed:11279502, PubMed:28484017). Interacts with ICOSLG (PubMed:28484017).
    Miscellaneous:
    • The therapeutic antibody Ipilimumab competes for the binding site of the endogenous ligands CD80/B7-1, CD86/B7-2 and ICOSLG.

    Three dimensional structures from OCA and Proteopedia for CTLA4 Gene

    Alternative splice isoforms for CTLA4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTLA4 Gene

Post-translational modifications for CTLA4 Gene

  • N-glycosylation is important for dimerization.
  • Phosphorylation at Tyr-201 prevents binding to the AP-2 adapter complex, blocks endocytosis, and leads to retention of CTLA4 on the cell surface.
  • Glycosylation at Asn113 and Asn145
  • Modification sites at PhosphoSitePlus

Other Protein References for CTLA4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for CTLA4
  • Santa Cruz Biotechnology (SCBT) Antibodies for CTLA4

Protein Products

  • Abcam proteins for CTLA4

No data available for DME Specific Peptides for CTLA4 Gene

Domains & Families for CTLA4 Gene

Gene Families for CTLA4 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for CTLA4 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CTLA4 Gene

GenScript: Design optimal peptide antigens:
  • Cytotoxic T-lymphocyte-associated antigen 4 (CTLA4_HUMAN)
  • Cytotoxic T-lymphocyte-associated protein 4 (E9L3G0_HUMAN)
  • Cytotoxic T-lymphocyte-associated protein 4 (E9L3G1_HUMAN)
  • Cytotoxic T-lymphocyte-associated protein 4 (E9L3G3_HUMAN)
  • Cytotoxic T-lymphocyte antigen 4 (Q0Q5F0_HUMAN)
genes like me logo Genes that share domains with CTLA4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CTLA4 Gene

Function for CTLA4 Gene

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Molecular function for CTLA4 Gene

UniProtKB/Swiss-Prot 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:
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

Phenotypes From GWAS Catalog for CTLA4 Gene

Gene Ontology (GO) - Molecular Function for CTLA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 7807015
genes like me logo Genes that share ontologies with CTLA4: view
genes like me logo Genes that share phenotypes with CTLA4: view

Human Phenotype Ontology for CTLA4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CTLA4 Gene

MGI Knock Outs for CTLA4:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for CTLA4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CTLA4 Gene

Localization for CTLA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTLA4 Gene

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;.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTLA4 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 4
extracellular 3
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CTLA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA 15814706
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IMP,TAS 28484017
GO:0009897 external side of plasma membrane IDA 18641304
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CTLA4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CTLA4 Gene

Pathways & Interactions for CTLA4 Gene

genes like me logo Genes that share pathways with CTLA4: view

Pathways by source for CTLA4 Gene

1 R&D Systems pathway for CTLA4 Gene
3 Qiagen pathways for CTLA4 Gene
  • CD28 Signaling in T-Helper Cell
  • CTLA4 Signaling
  • TCR Signaling
1 Cell Signaling Technology pathway for CTLA4 Gene

SIGNOR curated interactions for CTLA4 Gene

Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for CTLA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IBA 21873635
GO:0006955 immune response TAS 3220103
GO:0006974 cellular response to DNA damage stimulus IMP 17875758
GO:0030889 negative regulation of B cell proliferation IMP 17875758
genes like me logo Genes that share ontologies with CTLA4: view

Drugs & Compounds for CTLA4 Gene

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(68) Drugs for CTLA4 Gene - From: DrugBank, PharmGKB, ClinicalTrials, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ipilimumab Approved Pharma Target, Antibody, immunotherapy, inhibitor Therapeutic Antibodies, Immunotherapies, Immunomodulatory agents 616
Prednisone Approved, Vet_approved Pharma 1658
Abatacept Approved Pharma 243
Dexamethasone Approved, Investigational, Vet_approved Pharma Agonist Anti-inflammatory glucocorticoid 2680
Tacrolimus Approved, Investigational Pharma 1265

(18) Additional Compounds for CTLA4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CTLA4: view

Drug Products

Transcripts for CTLA4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CTLA4 Gene

(2) REFSEQ mRNAs :
(16) Additional mRNA sequences :
(22) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for CTLA4

Alternative Splicing Database (ASD) splice patterns (SP) for CTLA4 Gene

No ASD Table

Relevant External Links for CTLA4 Gene

GeneLoc Exon Structure for
CTLA4
ECgene alternative splicing isoforms for
CTLA4

Expression for CTLA4 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CTLA4 Gene

mRNA expression in normal human tissues for CTLA4 Gene
mRNA expression by BioGPS for CTLA4 GenemRNA expression by GTEx for CTLA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CTLA4 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x8.3), Whole Blood (x6.5), Spleen (x5.4), and Lung (x4.3).

NURSA nuclear receptor signaling pathways regulating expression of CTLA4 Gene:

CTLA4

SOURCE GeneReport for Unigene cluster for CTLA4 Gene:

Hs.247824

mRNA Expression by UniProt/SwissProt for CTLA4 Gene:

P16410-CTLA4_HUMAN
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.

Evidence on tissue expression from TISSUES for CTLA4 Gene

  • Blood(4.7)
  • Lymph node(4.7)
  • Lung(4.4)
  • Spleen(2.9)
  • Intestine(2.4)
  • Thyroid gland(2.2)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CTLA4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • larynx
  • mouth
  • neck
  • nose
  • pituitary gland
  • sinus
  • skull
Thorax:
  • bronchus
  • esophagus
  • heart
  • lung
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with CTLA4: view

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for CTLA4 Gene

Orthologs for CTLA4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CTLA4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CTLA4 33 32
  • 99.7 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CTLA4 32
  • 88.19 (n)
CD152 33
  • 87 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia CTLA4 32
  • 85.52 (n)
CTLA-4 33
  • 85 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Ctla4 32
  • 80.87 (n)
mouse
(Mus musculus)
 Mammalia Ctla4 17 33 32
  • 79.97 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia CTLA4 33
  • 60 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia CTLA4 33
  • 52 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CTLA4 33 32
  • 60.85 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia -- 33
  • 34 (a)
 OneToMany
-- 33
  • 31 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia ctla4 32
  • 51.87 (n)
zebrafish
(Danio rerio)
 Actinopterygii cd28 33
  • 21 (a)
 OneToOne
Species where no ortholog for CTLA4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CTLA4 Gene

ENSEMBL:
Gene Tree for CTLA4 (if available)
TreeFam:
Gene Tree for CTLA4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CTLA4: view image

Paralogs for CTLA4 Gene

Paralogs for CTLA4 Gene

genes like me logo Genes that share paralogs with CTLA4: view

Variants for CTLA4 Gene

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Polymorphic Variants from UniProtKB/Swiss-Prot for CTLA4 Gene

CTLA4_HUMAN-P16410
Genetic variations in CTLA4 are associated with susceptibility to several autoimmune disorders (PubMed:18595775, PubMed:12724780, PubMed:10189842, PubMed:10924276, PubMed:15138458, PubMed:15657618, PubMed:15688186, PubMed:25329329, PubMed:25213377). They influence responsiveness to hepatitis B virus (HBV) infection [MIM:610424] (PubMed:15452244).

Sequence variations from dbSNP and Humsavar for CTLA4 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1357409506 pathogenic, Autoimmune lymphoproliferatiVe syndrome, type V 203,870,896(+) C/A/T coding_sequence_variant, stop_gained, synonymous_variant
rs1357774202 uncertain-significance, Autoimmune lymphoproliferatiVe syndrome, type V 203,870,898(+) T/A/C coding_sequence_variant, missense_variant
rs138279736 uncertain-significance, Autoimmune lymphoproliferatiVe syndrome, type V 203,867,965(+) G/A/T coding_sequence_variant, missense_variant
rs144988077 uncertain-significance, Autoimmune lymphoproliferatiVe syndrome, type V 203,870,802(+) G/A coding_sequence_variant, missense_variant
rs1553657378 likely-pathogenic, Autoimmune lymphoproliferatiVe syndrome, type V 203,870,594(+) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for CTLA4 Gene

Variant ID Type Subtype PubMed ID
nsv1001799 CNV gain 25217958

Variation tolerance for CTLA4 Gene

Residual Variation Intolerance Score: 44.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.29; 6.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTLA4 Gene

Human Gene Mutation Database (HGMD)
CTLA4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTLA4

SNP Genotyping and Copy Number Assay Products

Disorders for CTLA4 Gene

MalaCards: The human disease database

(84) MalaCards diseases for CTLA4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
autoimmune lymphoproliferative syndrome, type v
  • alps5
celiac disease 3
  • celiac disease, susceptibility to, 3
diabetes mellitus, insulin-dependent, 12
  • iddm12
systemic lupus erythematosus
  • sle
mycosis fungoides
  • mycosis fungoides lymphoma
- elite association - COSMIC cancer census association via MalaCards
Search CTLA4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CTLA4_HUMAN
  • 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. {ECO:0000269 PubMed:15138458, ECO:0000269 PubMed:15688186}. 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. {ECO:0000269 PubMed:10924276}.
  • 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. {ECO:0000269 PubMed:9259273}. 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. {ECO:0000269 PubMed:10189842, ECO:0000269 PubMed:15657618}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Autoimmune lymphoproliferative syndrome 5 (ALPS5) [MIM:616100]: An autosomal dominant primary immunodeficiency characterized by severe autoimmunity, infiltration of non-lymphoid organs, such as the intestine, lungs and brain, by hyperactive T cells and B cells, autoimmune cytopenias, and hypogammaglobulinemia in early childhood. {ECO:0000269 PubMed:25213377, ECO:0000269 PubMed:25329329}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CTLA4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CTLA4: view

No data available for Genatlas for CTLA4 Gene

Publications for CTLA4 Gene

  1. Functional polymorphism of cytotoxic T-lymphocyte antigen 4 and nasopharyngeal carcinoma susceptibility in a Chinese population. (PMID: 19922464) Xiao M … Tang J (International journal of immunogenetics 2010) 3 23 43 56
  2. The CTLA-4 gene polymorphisms are associated with CTLA-4 protein expression levels in multiple sclerosis patients and with susceptibility to disease. (PMID: 19740340) Karabon L … Frydecka I (Immunology 2009) 3 23 43 56
  3. Combination of CTLA-4 and TGFbeta1 gene polymorphisms associated with dengue hemorrhagic fever and virus load in a dengue-2 outbreak. (PMID: 19269255) Chen RF … Yang KD (Clinical immunology (Orlando, Fla.) 2009) 3 23 43 56
  4. Genotype analysis of polymorphisms in autoimmune susceptibility genes, CTLA-4 and PTPN22, in an acute anterior uveitis cohort. (PMID: 19180256) Martin TM … Wallace GR (Molecular vision 2009) 3 23 43 56
  5. [+49 A/G genetic polymorphism of cytotoxic T lymphocyte associated antigen 4 (CTLA-4) in type 7 diabetes: association with autoantibodies and cytokines]. (PMID: 19621172) Pérez B F … Carrasco P E (Revista medica de Chile 2009) 3 23 43 56

ExternalLinks

View latest publications for CTLA4 gene in Mastermind

Products for CTLA4 Gene

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Sources for CTLA4 Gene