Human Gene BTLA (ENST00000334529.10_12) from GENCODE V47lift37
  Description: B and T lymphocyte associated, transcript variant 1 (from RefSeq NM_181780.4)
Gencode Transcript: ENST00000334529.10_12
Gencode Gene: ENSG00000186265.11_15
Transcript (Including UTRs)
   Position: hg19 chr3:112,182,813-112,218,319 Size: 35,507 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr3:112,184,955-112,218,205 Size: 33,251 Coding Exon Count: 5 

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Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:112,182,813-112,218,319)mRNA (may differ from genome)Protein (289 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BTLA_HUMAN
DESCRIPTION: RecName: Full=B- and T-lymphocyte attenuator; AltName: Full=B- and T-lymphocyte-associated protein; AltName: CD_antigen=CD272; Flags: Precursor;
FUNCTION: Lymphocyte inhibitory receptor which inhibits lymphocytes during immune response.
SUBUNIT: Interacts with tyrosine phosphatases PTPN6/SHP-1 and PTPN11/SHP-2. Interacts with TNFRSF14/HVEM.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential).
PTM: Phosphorylated on Tyr residues by TNFRSF14 and by antigen receptors cross-linking, both inducing association with PTPN6 and PTPN11.
PTM: N-glycosylated.
SIMILARITY: Contains 1 Ig-like V-type (immunoglobulin-like) domain.
SEQUENCE CAUTION: Sequence=BAD18396.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

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


-  MalaCards Disease Associations
  MalaCards Gene Search: BTLA
Diseases sorted by gene-association score: xanthogranulomatous cholecystitis (8)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.13 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 33.09 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -23.00114-0.202 Picture PostScript Text
3' UTR -482.002142-0.225 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR003599 - Ig_sub

Pfam Domains:
PF00047 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2AW2 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q7Z6A9
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0002250 adaptive immune response
GO:0002376 immune system process
GO:0031295 T cell costimulation

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AK131204 - Homo sapiens cDNA FLJ16065 fis, clone TRACH2003605.
AK292692 - Homo sapiens cDNA FLJ75957 complete cds, highly similar to Homo sapiens B and T lymphocyte associated (BTLA), mRNA.
BC107092 - Homo sapiens B and T lymphocyte associated, mRNA (cDNA clone IMAGE:40015591), partial cds.
AJ717664 - Homo sapiens mRNA for B and T lymphocyte attenuator (BTLA gene).
AY293286 - Homo sapiens B and T lymphocyte attenuator (BTLA) mRNA, complete cds.
AY599411 - Homo sapiens B and T lymphocyte attenuator mRNA, complete cds; alternatively spliced.
AY606805 - Homo sapiens B and T lymphocyte attenuator mRNA, complete cds, alternatively spliced.
BC107091 - Homo sapiens B and T lymphocyte associated, mRNA (cDNA clone MGC:129743 IMAGE:40015588), complete cds.
DQ198368 - Homo sapiens B and T lymphocyte attenuator variant mRNA, complete cds, alternatively spliced.
KJ900287 - Synthetic construct Homo sapiens clone ccsbBroadEn_09681 BTLA gene, encodes complete protein.
AB590954 - Synthetic construct DNA, clone: pFN21AE1782, Homo sapiens BTLA gene for B and T lymphocyte associated, without stop codon, in Flexi system.
JD498945 - Sequence 479969 from Patent EP1572962.
JD111386 - Sequence 92410 from Patent EP1572962.
JD439921 - Sequence 420945 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q7Z6A9 (Reactome details) participates in the following event(s):

R-HSA-389523 BTLA interacts with HVEM
R-HSA-389919 Grb2 binds pBTLA
R-HSA-389941 SHP-1 and SHP-2 bind pBTLA
R-HSA-388841 Costimulation by the CD28 family
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: BTLA , BTLA_HUMAN, ENST00000334529.1, ENST00000334529.2, ENST00000334529.3, ENST00000334529.4, ENST00000334529.5, ENST00000334529.6, ENST00000334529.7, ENST00000334529.8, ENST00000334529.9, NM_181780, Q3B831, Q3HS85, Q6ZNH9, Q7Z6A9, uc317tzp.1, uc317tzp.2
UCSC ID: ENST00000334529.10_12
RefSeq Accession: NM_181780.4
Protein: Q7Z6A9 (aka BTLA_HUMAN)

-  Gene Model Information
  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.