Human Gene CTLA4 (uc010ftz.2)
  Description: Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4), transcript variant 2, mRNA.
RefSeq Summary (NM_001037631): 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].
Transcript (Including UTRs)
   Position: hg19 chr2:204,732,511-204,738,683 Size: 6,173 Total Exon Count: 2 Strand: +


Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionOther SpeciesmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:204,732,511-204,738,683)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSEnsemblExonPrimerGeneNetworkHGNCLynx
MalacardsPubMedTreefamWikipedia

-  Primer design for this transcript
 

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Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CTLA4
CDC HuGE Published Literature: CTLA4
Positive Disease Associations: Addison's disease , allogeneic stem cell transplantation , anemia; thrombocytopenic purpura, idiopathic , arthritis, rheumatoid , asthma , asthma; dermatitis and eczema; rhinitis , Asthma| , atopic dermatitis , atopy , Autoimmune Diseases|Lupus Erythematosus, Systemic|Systemic lupus erythematosus , autoimmune hepatitis , autoimmune hypothyroidism , autoimmune response , autoimmune thyroid disease , autoimmune thyroid disease; thyroid disease, autoimmune , Behcet Syndrome| , breast cancer , bronchial hyperresponsiveness , cardiomyopathy , cardiomyopathy, idiopathic dilated , celiac disease , cirrhosis, alcoholic; liver disease , cirrhosis, biliary primary , cirrhosis, biliary primary; hepatitis, autoimmune , Coeliac , coeliac disease , Colitis, Ulcerative| , colorectal cancer , Crohn's disease; ulcerative colitis , diabetes mellitus , Diabetes Mellitus, Type 1 , diabetes, latent autoimmune , diabetes, type 1 , diabetes, type 1 with AITD , diabetes, type 1 thyroid autoimmunity , diabetes, type 2 , diabetes, type 2; diabetes, type 1 , Fuchs heterochromic cyclitis , Graves disease , Graves Ophthalmopathy , Graves' disease , Graves' disease ophthalmology , Graves' disease; Hashimoto's thyroiditis , Graves' disease; ophthalmopathy, Graves' , Graves' hyperthyroidism , Grave`s disease , H-Thyroiditis , Hashimoto's thryoiditis , hepatitis B, chronic , hepatitis C , HIV , Hypothyroidism , hypothyroidism, autoimmune , inflammatory bowel disease , kidney transplant , Liver Cirrhosis, Biliary , liver transplant , Lupus , lupus erythematosus , lymphoma , Monocytes , multiple myeloma , multiple sclerosis , myasthenia gravis , myeloma, multiple , oral squamous cell cancer , oral submucous fibrosis , preeclampsia , pregnancy loss, recurrent , Pretibial myxedema , rheumatoid arthritis , rheumatoid arthritis; celiac disease , schizophrenia , sclerosis, systemic , Sjogren's syndrome , soluble cytotoxic T lymphocyte-associated antigen-4 , susceptibility to autoimmune disease , systemic lupus erythematosus , systemic sclerosis , thyroiditis, chronic lymphocytic , Total IgE , type 1 diabetes , ulcerative colitis , vitiligo; autoimmune disease , Wegener's granulomatosis
Related Studies:
  1. Addison's disease
    Blomhoff, A. et al. 2004, Polymorphisms in the cytotoxic T lymphocyte antigen-4 gene region confer susceptibility to Addison's disease., The Journal of clinical endocrinology and metabolism. 2004 Jul;89(7):3474-6. [PubMed 15240634]
    This finding suggests that polymorphisms in CTLA4 confer general risk to develop autoimmunity and identifies a potential therapeutic target in the prevention of autoimmune endocrine disorders.
  2. allogeneic stem cell transplantation
    Patrizia Piccioli , et al. Annals of hematology 2009 Dec, CTLA-4 +49A>G polymorphism of recipients of HLA-matched sibling allogeneic stem cell transplantation is associated with survival and relapse incidence., Annals of hematology 2009 Dec. [PubMed 20020126]
  3. anemia; thrombocytopenic purpura, idiopathic
    Pavkovic, M. et al. 2003, CTLA-4 exon 1 polymorphism in patients with autoimmune blood disorders., American journal of hematology. 2003 Feb;72(2):147-9. [PubMed 12555221]
    The obtained data indicate that the G allele of CTLA-4 predisposes to the development of AIHA, particularly among patients with CLL.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: CTLA4
Diseases sorted by gene-association score: autoimmune lymphoproliferative syndrome, type v* (1650), celiac disease 3* (603), hashimoto thyroiditis* (595), diabetes mellitus, insulin-dependent, 12* (577), autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency* (400), systemic lupus erythematosus* (358), sezary's disease* (250), mycosis fungoides* (207), graves' disease (48), celiac disease (42), wegener granulomatosis* (30), lupus erythematosus (28), thyroiditis (23), paracoccidioidomycosis (19), hypersensitivity reaction type ii disease (17), hyperthyroidism (16), adult-onset myasthenia gravis* (14), diabetes mellitus, insulin-dependent (14), anca-associated vasculitis (13), autoimmune hepatitis (13), autoimmune lymphoproliferative syndrome (12), alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity (12), autoinflammation with infantile enterocolitis (11), addison's disease (11), lymphoproliferative syndrome (11), autoimmune addison disease (11), myasthenia gravis (10), sympathetic ophthalmia (10), myxedema (10), uveitis (8), autoimmune disease of endocrine system (8), primary biliary cirrhosis (7), anterior uveitis (7), orbital plasma cell granuloma (7), chronic orbital inflammation (7), autoimmune pancreatitis (7), alopecia areata (7), filariasis (7), vitiligo-associated multiple autoimmune disease susceptibility 1 (6), thymoma (6), diabetes mellitus, insulin-dependent, 2 (6), severe hemophilia a (6), diabetes mellitus, ketosis-prone (6), urinary schistosomiasis (6), diabetes mellitus, insulin-dependent, 5 (6), rheumatoid arthritis (6), myasthenic syndrome, congenital, 7, presynaptic (6), chronic active epstein-barr virus infection (6), diabetes mellitus, insulin-dependent, 17 (6), spotted fever (6), hematopoietic stem cell transplantation (5), diabetes mellitus, insulin-dependent, 11 (5), chorioangioma (5), hepatitis b (5), autoimmune disease of gastrointestinal tract (4), diabetes mellitus, insulin-dependent, 13 (4), type 1 diabetes mellitus 10 (4), malignant skin fibrous histiocytoma (4), hemangioma of intra-abdominal structure (4), malignant dermis tumor (4), multiple sclerosis, disease progression, modifier of (3), common variable immunodeficiency (2), hypersensitivity reaction disease (2), malaria (1), cell type cancer (1), behcet syndrome (1), immune system disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.82 RPKM in Spleen
Total median expression: 16.77 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  BC070162 - Homo sapiens cytotoxic T-lymphocyte-associated protein 4, mRNA (cDNA clone MGC:88142 IMAGE:30417685), complete cds.
AF414120 - Homo sapiens CTLA4 (CTLA4) mRNA, complete cds.
LQ882888 - Sequence 37 from Patent WO2018160841.
AK313732 - Homo sapiens cDNA, FLJ94332, highly similar to Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4), mRNA.
BC069566 - Homo sapiens cytotoxic T-lymphocyte-associated protein 4, mRNA (cDNA clone MGC:97034 IMAGE:7262243), complete cds.
BC074893 - Homo sapiens cytotoxic T-lymphocyte-associated protein 4, mRNA (cDNA clone MGC:103865 IMAGE:30915247), complete cds.
BC074842 - Homo sapiens cytotoxic T-lymphocyte-associated protein 4, mRNA (cDNA clone MGC:104099 IMAGE:30915552), complete cds.
AB590653 - Synthetic construct DNA, clone: pFN21AB6904, Homo sapiens CTLA4 gene for cytotoxic T-lymphocyte-associated protein 4, without stop codon, in Flexi system.
KJ890998 - Synthetic construct Homo sapiens clone ccsbBroadEn_00392 CTLA4 gene, encodes complete protein.
KR712092 - Synthetic construct Homo sapiens clone CCSBHm_00035703 CTLA4 (CTLA4) mRNA, encodes complete protein.
AF486806 - Homo sapiens CTLA4 mRNA, partial cds.
AY209009 - Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4) mRNA, complete cds.
AY792514 - Homo sapiens ligand and transmembrane spliced cytotoxic T lymphocyte associated antigen 4 (CTLA4) mRNA, complete cds.
AY999702 - Homo sapiens cytotoxic T lymphocyte associated antigen 4 short spliced form mRNA, complete cds, alternatively spliced.
DQ785106 - Homo sapiens CD152 isoform (CTLA4) mRNA, partial cds, alternatively spliced.
L15006 - Homo sapiens Ig superfamily CTLA-4 mRNA, complete cds.
LQ927248 - Sequence 25 from Patent WO2018191660.
MP216602 - Sequence 26 from Patent WO2019161400.
MP584538 - Sequence 37 from Patent WO2020081767.
JD165112 - Sequence 146136 from Patent EP1572962.
JD254540 - Sequence 235564 from Patent EP1572962.
U90273 - Homo sapiens CTLA-4 mRNA, partial cds.
JD171964 - Sequence 152988 from Patent EP1572962.
JD313936 - Sequence 294960 from Patent EP1572962.
JD410559 - Sequence 391583 from Patent EP1572962.
JD533758 - Sequence 514782 from Patent EP1572962.
JD314154 - Sequence 295178 from Patent EP1572962.
JD181456 - Sequence 162480 from Patent EP1572962.
JD119576 - Sequence 100600 from Patent EP1572962.
JD102564 - Sequence 83588 from Patent EP1572962.
JD074755 - Sequence 55779 from Patent EP1572962.
JD302934 - Sequence 283958 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04514 - Cell adhesion molecules (CAMs)
hsa04660 - T cell receptor signaling pathway
hsa05320 - Autoimmune thyroid disease

BioCarta from NCI Cancer Genome Anatomy Project
h_ctla4Pathway - The Co-Stimulatory Signal During T-cell Activation

-  Other Names for This Gene
  Alternate Gene Symbols: AY999702
UCSC ID: uc010ftz.2
RefSeq Accession: NM_001037631

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: no RNA accession: AY999702.1
exon count: 2CDS single in 3' UTR: no RNA size: 214
ORF size: 0CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 534.50frame shift in genome: no % Coverage: 100.00
has start codon: no stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.