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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 Rheumatoid Arthritis. Among its related pathways are Innate Immune System and CD28 co-stimulation.

UniProtKB/Swiss-Prot for BTLA Gene

  • Lymphocyte inhibitory receptor which inhibits lymphocytes during immune response.

Gene Wiki entry for BTLA Gene

Additional gene information for BTLA Gene

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

Genomics for BTLA Gene

GeneHancer (GH) Regulatory Elements for BTLA Gene

Promoters and enhancers for BTLA 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
GH03J112494 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 664.1 +1.6 1569 6.3 PKNOX1 RB1 JUN IRF4 RELA POLR2A EED ETV6 BCLAF1 IKZF2 BTLA SLC35A5 CD200 MIR567 C3orf52 LOC105374041
GH03J112534 Promoter/Enhancer 0.7 EPDnew dbSUPER 650.3 -34.6 -34605 0.1 BTLA CD200 MIR567 C3orf52 ENSG00000279349 ATG3 SLC35A5
GH03J112357 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.7 +137.9 137941 8.9 JUN BMI1 BATF RELA GATA3 POLR2A ATF7 IKZF2 RUNX3 STAT1 SLC9C1 GC03M112363 CD200 BTLA MIR567 C3orf52 ENSG00000239482 ENSG00000261488 ATG3
GH03J112462 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.3 +35.0 34988 3.9 HDGF PKNOX1 SMAD1 RB1 BATF ATF7 ETV6 BCLAF1 IKZF2 RUNX3 BTLA CD200 MIR567 C3orf52 SLC35A5 LOC105374041
GH03J112389 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +108.6 108644 3.4 SOX13 SRF PKNOX1 NANOG JUN SP1 JUND POLR2A POU5F1 RUNX3 CD200 BTLA MIR567 C3orf52 LOC105374041 GC03M112363
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BTLA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BTLA gene promoter:

Genomic Locations for BTLA Gene

Genomic Locations for BTLA Gene
chr3:112,463,966-112,499,702
(GRCh38/hg38)
Size:
35,737 bases
Orientation:
Minus strand
chr3:112,182,813-112,218,408
(GRCh37/hg19)

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

Post-translational modifications for BTLA Gene

  • Phosphorylated on Tyr residues by TNFRSF14 and by antigen receptors cross-linking, both inducing association with PTPN6 and PTPN11.
  • N-glycosylated.
  • Glycosylation at posLast=110110, Asn94, and Asn75
  • Modification sites at PhosphoSitePlus

Other Protein References for BTLA Gene

No data available for DME Specific Peptides for BTLA Gene

Domains & Families for BTLA Gene

Gene Families for BTLA Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for BTLA Gene

Graphical View of Domain Structure for InterPro Entry

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

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

Function for BTLA Gene

Molecular function for BTLA Gene

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

Phenotypes From GWAS Catalog 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

miRNA for BTLA Gene

miRTarBase miRNAs that target BTLA

Clone 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
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 BTLA gene
Compartment Confidence
plasma membrane 5
extracellular 2
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for BTLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with BTLA: view

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

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0031295 T cell costimulation TAS --
genes like me logo Genes that share ontologies with BTLA: view

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

(16) Selected AceView cDNA sequences:
(9) Additional mRNA sequences :
(4) REFSEQ mRNAs :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BTLA Gene

B and T lymphocyte associated:
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for BTLA Gene

NURSA nuclear receptor signaling pathways regulating expression of BTLA Gene:

BTLA

SOURCE GeneReport for Unigene cluster for BTLA Gene:

Hs.445162

Evidence on tissue expression from TISSUES for BTLA Gene

  • Blood(4.5)
  • Lymph node(2.4)
  • Spleen(2.2)
genes like me logo Genes that share expression patterns with BTLA: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 33
  • 99.77 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BTLA 34 33
  • 78.13 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BTLA 34 33
  • 75.41 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Btla 16 34 33
  • 70.74 (n)
rat
(Rattus norvegicus)
Mammalia Btla 33
  • 69.66 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BTLA 34
  • 32 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BTLA 34
  • 33 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101732729 33
  • 51.25 (n)
zebrafish
(Danio rerio)
Actinopterygii BTLA 34
  • 17 (a)
OneToOne
Species where no ortholog for BTLA 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BTLA: view image

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 Variation AA Info Type
rs1000192452 -- 112,472,472(-) G/A intron_variant
rs1000249016 -- 112,480,298(-) C/A intron_variant
rs1000268975 -- 112,467,274(-) G/A intron_variant
rs1000278714 -- 112,479,985(-) G/T intron_variant
rs1000428401 -- 112,501,216(-) A/T upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv4840n100 CNV gain 25217958
esv3333682 CNV insertion 20981092
esv3597411 CNV gain 21293372
nsv1005323 CNV gain 25217958
nsv3950 CNV insertion 18451855
nsv591293 CNV loss 21841781
nsv591294 CNV gain 21841781
nsv591300 CNV gain 21841781
nsv953246 CNV duplication 24416366

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)

Additional Variant Information for BTLA Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for BTLA Gene

MalaCards: The human disease database

(2) MalaCards diseases for BTLA Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
xanthogranulomatous cholecystitis
  • cx
rheumatoid arthritis
  • ra
- elite association - COSMIC cancer census association via MalaCards
Search BTLA in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BTLA

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 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 KM (Nature immunology 2003) 2 3 4 58
  2. Large-scale candidate gene analysis of spontaneous clearance of hepatitis C virus. (PMID: 20331378) Mosbruger TL … Thio CL (The Journal of infectious diseases 2010) 3 44 58
  3. PD1 as a common candidate susceptibility gene of subacute sclerosing panencephalitis. (PMID: 20066438) Ishizaki Y … Hara T (Human genetics 2010) 3 44 58
  4. Association of BTLA gene polymorphisms with the risk of malignant breast cancer in Chinese women of Heilongjiang Province. (PMID: 19585237) Fu Z … Li D (Breast cancer research and treatment 2010) 3 44 58
  5. Association study between B- and T-lymphocyte attenuator gene and type 1 diabetes mellitus or systemic lupus erythematosus in the Japanese population. (PMID: 19207938) Inuo M … Hara T (International journal of immunogenetics 2009) 3 44 58

Products for BTLA Gene

Sources for BTLA Gene

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