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    BTLA B and T lymphocyte associated [ Homo sapiens (human) ]

    Gene ID: 151888, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BTLAprovided by HGNC
    Official Full Name
    B and T lymphocyte associatedprovided by HGNC
    Primary source
    HGNC:HGNC:21087
    See related
    Ensembl:ENSG00000186265 MIM:607925; AllianceGenome:HGNC:21087
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BTLA1; CD272
    Summary
    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]
    Expression
    Biased expression in lymph node (RPKM 5.9), appendix (RPKM 3.2) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BTLA in Genome Data Viewer
    Location:
    3q13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (112463966..112499624, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (115185008..115220789, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (112182813..112218319, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374042 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:112051670-112052627 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:112052628-112053584 Neighboring gene NANOG hESC enhancer GRCh37_chr3:112054081-112054840 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:112073606-112074235 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20238 Neighboring gene CD200 molecule Neighboring gene uncharacterized LOC105374041 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:112109833-112110448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20239 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:112118629-112119141 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:112119142-112119653 Neighboring gene uncharacterized LOC124909408 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:112119654-112120166 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:112125128-112125650 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:112132473-112132973 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:112135621-112136474 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:112136475-112137328 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:112137329-112138182 Neighboring gene 3q13.2-q13.31 proximal HERV-H recombination region Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:112141599-112142451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20240 Neighboring gene NANOG hESC enhancer GRCh37_chr3:112184939-112185454 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:112192511-112193011 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:112240775-112241275 Neighboring gene olfactory receptor family 7 subfamily E member 100 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20245 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:112279571-112280380 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:112280381-112281190 Neighboring gene autophagy related 3 Neighboring gene solute carrier family 35 member A5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Expression and clinical significance of B and T lymphocyte attenuator on CD4(+) and CD8(+) T cells from patients with pulmonary tuberculosis. Shen X, et al. Indian J Pathol Microbiol, 2019 Apr-Jun. PMID 30971546
    2. Association of BTLA rs1982809 polymorphism with lung cancer risk in Tunisian population. Khadhraoui C, et al. Int J Immunogenet, 2020 Dec. PMID 32757486
    3. Expression and function of the B and T lymphocyte attenuator (BTLA/CD272) on human T cells. Otsuki N, et al. Biochem Biophys Res Commun, 2006 Jun 16. PMID 16643847
    4. The co-receptor BTLA negatively regulates human Vγ9Vδ2 T-cell proliferation: a potential way of immune escape for lymphoma cells. Gertner-Dardenne J, et al. Blood, 2013 Aug 8. PMID 23692853
    5. Association of a BTLA gene polymorphism with the risk of rheumatoid arthritis. Lin SC, et al. J Biomed Sci, 2006 Nov. PMID 17024343

    See all (94) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The BTLA-HVEM axis restricts CAR T cell efficacy in cancer.
      Title: The BTLA-HVEM axis restricts CAR T cell efficacy in cancer.
    2. The Immune Checkpoint BTLA in Oral Cancer: Expression Analysis and Its Correlation to Other Immune Modulators.
      Title: The Immune Checkpoint BTLA in Oral Cancer: Expression Analysis and Its Correlation to Other Immune Modulators.
    3. BTLA contributes to acute-on-chronic liver failure infection and mortality through CD4[+] T-cell exhaustion.
      Title: BTLA contributes to acute-on-chronic liver failure infection and mortality through CD4(+) T-cell exhaustion.
    4. B- and T-lymphocyte attenuator could be a new player in accelerated atherosclerosis associated with chronic kidney disease.
      Title: B- and T-lymphocyte attenuator could be a new player in accelerated atherosclerosis associated with chronic kidney disease.
    5. BTLA dysregulation correlates with poor outcome and diminished T cell-mediated antitumor responses in chronic lymphocytic leukemia.
      Title: BTLA dysregulation correlates with poor outcome and diminished T cell-mediated antitumor responses in chronic lymphocytic leukemia.
    6. The association of BTLA gene polymorphisms with non-small lung cancer risk in smokers and never-smokers.
      Title: The association of BTLA gene polymorphisms with non-small lung cancer risk in smokers and never-smokers.
    7. Tumor Cell-Intrinsic BTLA Receptor Inhibits the Proliferation of Tumor Cells via ERK1/2.
      Title: Tumor Cell-Intrinsic BTLA Receptor Inhibits the Proliferation of Tumor Cells via ERK1/2.
    8. BTLA inhibition has a dominant role in the cis-complex of BTLA and HVEM.
      Title: BTLA inhibition has a dominant role in the cis-complex of BTLA and HVEM.
    9. Early detection of soluble CD27, BTLA, and TIM-3 predicts the development of nosocomial infection in pediatric burn patients.
      Title: Early detection of soluble CD27, BTLA, and TIM-3 predicts the development of nosocomial infection in pediatric burn patients.
    10. The correlation of BTLA rs1982809 polymorphism with cancer susceptibility: A meta-analysis of 8634 participators.
      Title: The correlation of BTLA rs1982809 polymorphism with cancer susceptibility: A meta-analysis of 8634 participators.
    Submit: New GeneRIF Correction See all GeneRIFs (80)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates the expression of B and T lymphocyte associated protein (BTLA) in human B cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ16065, MGC129743

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in immune response-regulating cell surface receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    B- and T-lymphocyte attenuator
    Names
    B- and T-lymphocyte-associated protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001085357.2 → NP_001078826.1  B- and T-lymphocyte attenuator isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AA828425, AC092894, AK131204, BC107091, BE832323, CD702861
      Consensus CDS
      CCDS43130.1
      UniProtKB/Swiss-Prot
      Q7Z6A9
      Related
      ENSP00000373178.4, ENST00000383680.5
      Conserved Domains (2) summary
      smart00410
      Location:43 → 133
      IG_like; Immunoglobulin like
      cl11960
      Location:43 → 134
      Ig; Immunoglobulin domain

    2. NM_181780.4 → NP_861445.4  B- and T-lymphocyte attenuator isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC092894
      Consensus CDS
      CCDS33819.1
      UniProtKB/Swiss-Prot
      Q3B831, Q3HS85, Q6ZNH9, Q7Z6A9
      Related
      ENSP00000333919.5, ENST00000334529.10
      Conserved Domains (1) summary
      smart00410
      Location:43 → 133
      IG_like; Immunoglobulin like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      112463966..112499624 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447496.1 → XP_047303452.1  B- and T-lymphocyte attenuator isoform X3

    2. XM_017005748.3 → XP_016861237.1  B- and T-lymphocyte attenuator isoform X2

      UniProtKB/Swiss-Prot
      Q3B831, Q3HS85, Q6ZNH9, Q7Z6A9
      Conserved Domains (1) summary
      smart00410
      Location:43 → 133
      IG_like; Immunoglobulin like

    3. XM_011512447.4 → XP_011510749.1  B- and T-lymphocyte attenuator isoform X1

      See identical proteins and their annotated locations for XP_011510749.1

      Conserved Domains (2) summary
      smart00410
      Location:43 → 133
      IG_like; Immunoglobulin like
      cl11960
      Location:43 → 134
      Ig; Immunoglobulin domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      115185008..115220789 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345352.1 → XP_054201327.1  B- and T-lymphocyte attenuator isoform X1

    2. XM_054345354.1 → XP_054201329.1  B- and T-lymphocyte attenuator isoform X3

    3. XM_054345353.1 → XP_054201328.1  B- and T-lymphocyte attenuator isoform X2

      UniProtKB/TrEMBL
      Q400G7

    4. XM_054345351.1 → XP_054201326.1  B- and T-lymphocyte attenuator isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z6A9.3 GenPept UniProtKB/Swiss-Prot:Q7Z6A9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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