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Aliases for BTLA Gene

Aliases for BTLA Gene

  • B And T Lymphocyte Associated 2 3 5
  • B- And T-Lymphocyte-Associated Protein 3 4
  • B And T Lymphocyte Attenuator 3
  • CD272 Antigen 4
  • BTLA1 3
  • CD272 3

External Ids for BTLA Gene

Previous GeneCards Identifiers for BTLA Gene

  • GC03M113466
  • GC03M113505
  • GC03M113667
  • GC03M112182
  • GC03M109566

Summaries for BTLA Gene

Entrez Gene Summary for BTLA Gene

  • This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis. [provided by RefSeq, Aug 2011]

GeneCards Summary for BTLA Gene

BTLA (B And T Lymphocyte Associated) is a Protein Coding gene. Diseases associated with BTLA include xanthogranulomatous cholecystitis and subacute sclerosing panencephalitis. Among its related pathways are Immune System and IgA-Producing B Cells in the Intestine. GO annotations related to this gene include receptor activity.

UniProtKB/Swiss-Prot for BTLA Gene

  • Lymphocyte inhibitory receptor which inhibits lymphocytes during immune response.

Gene Wiki entry for BTLA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTLA Gene

Genomics for BTLA Gene

Regulatory Elements for BTLA Gene

Genomic Location for BTLA Gene

Chromosome:
3
Start:
112,463,966 bp from pter
End:
112,499,702 bp from pter
Size:
35,737 bases
Orientation:
Minus strand

Genomic View for BTLA Gene

Genes around BTLA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for BTLA Gene

Proteins for BTLA Gene

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

    Protein Symbol:
    Q7Z6A9-BTLA_HUMAN
    Recommended name:
    B- and T-lymphocyte attenuator
    Protein Accession:
    Q7Z6A9
    Secondary Accessions:
    • Q3B831
    • Q3HS85
    • Q6ZNH9

    Protein attributes for BTLA Gene

    Size:
    289 amino acids
    Molecular mass:
    32834 Da
    Quaternary structure:
    • Interacts with tyrosine phosphatases PTPN6/SHP-1 and PTPN11/SHP-2. Interacts with TNFRSF14/HVEM.
    SequenceCaution:
    • Sequence=BAD18396.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BTLA Gene

    Alternative splice isoforms for BTLA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BTLA Gene

Proteomics data for BTLA Gene at MOPED

Post-translational modifications for BTLA Gene

  • N-glycosylated.
  • Phosphorylated on Tyr residues by TNFRSF14 and by antigen receptors cross-linking, both inducing association with PTPN6 and PTPN11.
  • Glycosylation at Asn 75, Asn 94, and Asn 110
  • Modification sites at PhosphoSitePlus

Other Protein References for BTLA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for BTLA Gene

Domains & Families for BTLA Gene

Protein Domains for BTLA Gene

Graphical View of Domain Structure for InterPro Entry

Q7Z6A9

UniProtKB/Swiss-Prot:

BTLA_HUMAN :
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
Domain:
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
genes like me logo Genes that share domains with BTLA: view

Function for BTLA Gene

Molecular function for BTLA Gene

UniProtKB/Swiss-Prot Function:
Lymphocyte inhibitory receptor which inhibits lymphocytes during immune response.

Phenotypes for BTLA Gene

genes like me logo Genes that share phenotypes with BTLA: view

Animal Models for BTLA Gene

MGI Knock Outs for BTLA:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BTLA Gene

Localization for BTLA Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTLA Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BTLA Gene COMPARTMENTS Subcellular localization image for BTLA gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BTLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with BTLA: view

Pathways & Interactions for BTLA Gene

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

Pathways by source for BTLA Gene

Gene Ontology (GO) - Biological Process for BTLA Gene

None

No data available for SIGNOR curated interactions for BTLA Gene

Drugs & Compounds for BTLA Gene

No Compound Related Data Available

Transcripts for BTLA Gene

mRNA/cDNA for BTLA Gene

Unigene Clusters for BTLA Gene

B and T lymphocyte associated:
Representative Sequences:

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5
SP1:
SP2: -

Relevant External Links for BTLA Gene

GeneLoc Exon Structure for
BTLA
ECgene alternative splicing isoforms for
BTLA

Expression for BTLA Gene

mRNA expression in normal human tissues for BTLA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BTLA Gene

This gene is overexpressed in Peripheral blood mononuclear cells (42.8) and Blymphocyte (15.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BTLA Gene



SOURCE GeneReport for Unigene cluster for BTLA Gene Hs.445162

genes like me logo Genes that share expression patterns with BTLA: view

Protein tissue co-expression partners for BTLA Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for BTLA Gene

Orthologs for BTLA Gene

This gene was present in the common ancestor of chordates.

Orthologs for BTLA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BTLA 35
  • 99.77 (n)
  • 99.65 (a)
BTLA 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BTLA 36
  • 62 (a)
OneToOne
BTLA 35
  • 75.41 (n)
  • 62.59 (a)
dog
(Canis familiaris)
Mammalia BTLA 35
  • 78.13 (n)
  • 66.67 (a)
BTLA 36
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Btla 16
Btla 36
  • 51 (a)
OneToOne
Btla 35
  • 70.74 (n)
  • 56.47 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia BTLA 36
  • 32 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Btla 35
  • 69.66 (n)
  • 56.47 (a)
lizard
(Anolis carolinensis)
Reptilia BTLA 36
  • 33 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101732729 35
  • 51.25 (n)
  • 35.48 (a)
zebrafish
(Danio rerio)
Actinopterygii BTLA 36
  • 17 (a)
OneToOne
Species with no ortholog for BTLA:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 BTLA Gene

ENSEMBL:
Gene Tree for BTLA (if available)
TreeFam:
Gene Tree for BTLA (if available)

Paralogs for BTLA Gene

No data available for Paralogs for BTLA Gene

Variants for BTLA Gene

Sequence variations from dbSNP and Humsavar for BTLA Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs2931761 - 112,471,290(-) TGTAT(A/C)GTTTA intron-variant, reference, missense
rs9288952 - 112,466,178(+) AGTTC(A/G)GTCCA reference, missense
rs16859633 - 112,479,488(+) TTCAA(C/T)GAGAT reference, missense
rs2633561 -- 112,477,658(-) gtttt(C/T)ttagc intron-variant
rs2633562 -- 112,477,584(-) TAAAC(A/G)CTTCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv3950 CNV Insertion 18451855
nsv877342 CNV Gain 21882294

Variation tolerance for BTLA Gene

Residual Variation Intolerance Score: 46% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.07; 1.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BTLA Gene

HapMap Linkage Disequilibrium report
BTLA
Human Gene Mutation Database (HGMD)
BTLA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTLA Gene

Disorders for BTLA Gene

MalaCards: The human disease database

(4) MalaCards diseases for BTLA Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
xanthogranulomatous cholecystitis
  • cx
subacute sclerosing panencephalitis
  • immunosuppressive measles encephalitis
precursor b-cell acute lymphoblastic leukemia
  • b-all
rheumatoid arthritis
  • rheumatoid arthritis, progression of
- elite association - COSMIC cancer census association via MalaCards
Search BTLA in MalaCards View complete list of genes associated with diseases

Relevant External Links for BTLA

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

No data available for UniProtKB/Swiss-Prot and Genatlas for BTLA Gene

Publications for BTLA Gene

  1. BTLA is a lymphocyte inhibitory receptor with similarities to CTLA-4 and PD-1. (PMID: 12796776) Watanabe N. … Murphy K.M. (Nat. Immunol. 2003) 2 3 4 67
  2. Novel gene targets detected by genomic profiling in a consecutive series of 126 adults with acute lymphoblastic leukemia. (PMID: 25261097) Safavi S. … Paulsson K. (Haematologica 2015) 3
  3. CD200/BTLA deletions in pediatric precursor B-cell acute lymphoblastic leukemia treated according to the EORTC-CLG 58951 protocol. (PMID: 26137961) Ghazavi F. … De Moerloose B. (Haematologica 2015) 3
  4. Ectopic expression of B and T lymphocyte attenuator in gastric cancer: a potential independent prognostic factor in patients with gastric cancer. (PMID: 25334051) Feng X.Y. … Zhang X.S. (Mol Med Rep 2015) 3
  5. [The decline in lung function is associated with a decrease in the number of BTLAa8_ lymphocytes and regulatory T cells in patients with rheumatism]. (PMID: 24909289) Liu J. … Wang Y. (Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 2014) 3

Products for BTLA Gene

Sources for BTLA Gene

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