Aliases for TRBV12-4 Gene

Aliases for TRBV12-4 Gene

  • T Cell Receptor Beta Variable 12-4 2 3 4 5
  • TCRBV8S2A1T 2 3
  • TCRBV12S4 2 3
  • TRBV124 2 3
  • V_segment Translation Product 3
  • TRBV12-4 5

External Ids for TRBV12-4 Gene

Previous GeneCards Identifiers for TRBV12-4 Gene

  • GC07U990199
  • GC07P141636
  • GC07P141715
  • GC07P141716
  • GC07P141759
  • GC07P141952
  • GC07Pg41644
  • GC07P142755
  • GC07P142970
  • GC07P144301
  • GC07P144434
  • GC07P144651
  • GC07P144891
  • GC07P143122
  • GC07P143335
  • GC07P143472
  • GC07P143613
  • GC07P143770
  • GC07P143890
  • GC07P144029
  • GC07P144158

Summaries for TRBV12-4 Gene

GeneCards Summary for TRBV12-4 Gene

TRBV12-4 (T Cell Receptor Beta Variable 12-4) is a Protein Coding gene. An important paralog of this gene is TRBV12-3.

UniProtKB/Swiss-Prot Summary for TRBV12-4 Gene

  • V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).

Additional gene information for TRBV12-4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRBV12-4 Gene

Genomics for TRBV12-4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TRBV12-4 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
GH07J142563 Promoter 0.3 EPDnew 600.7 0.0 -12 0.1 TRBV12-4 TRBV12-3 lnc-PRSS2-6 TRB
GH07J142564 Promoter 0.3 Ensembl 600.7 +0.5 461 0.4 TRBV12-4 TRBV12-5 lnc-PRSS2-6 TRB
GH07J142562 Promoter 0.3 Ensembl 0.7 -2.2 -2239 0.2 TRBV12-3 TRBV12-4 lnc-PRSS2-6 TRB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRBV12-4 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for TRBV12-4 Gene

Genomic Locations for TRBV12-4 Gene
chr7:142,563,740-142,564,245
(GRCh38/hg38)
Size:
506 bases
Orientation:
Plus strand

Genomic View for TRBV12-4 Gene

Genes around TRBV12-4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRBV12-4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRBV12-4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRBV12-4 Gene

Proteins for TRBV12-4 Gene

  • Protein details for TRBV12-4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A0A0B4J2E0-TVBL4_HUMAN
    Recommended name:
    T cell receptor beta variable 12-4
    Protein Accession:
    A0A0B4J2E0

    Protein attributes for TRBV12-4 Gene

    Size:
    115 amino acids
    Molecular mass:
    12982 Da
    Quaternary structure:
    • Alpha-beta TR is a heterodimer composed of an alpha and beta chain; disulfide-linked. The alpha-beta TR is associated with the transmembrane signaling CD3 coreceptor proteins to form the TR-CD3 (TcR or TCR). The assembly of alpha-beta TR heterodimers with CD3 occurs in the endoplasmic reticulum where a single alpha-beta TR heterodimer associates with one CD3D-CD3E heterodimer, one CD3G-CD3E heterodimer and one CD247 homodimer forming a stable octomeric structure. CD3D-CD3E and CD3G-CD3E heterodimers preferentially associate with TR alpha and TR beta chains, respectively. The association of the CD247 homodimer is the last step of TcR assembly in the endoplasmic reticulum and is required for transport to the cell surface.

    Three dimensional structures from OCA and Proteopedia for TRBV12-4 Gene

neXtProt entry for TRBV12-4 Gene

Post-translational modifications for TRBV12-4 Gene

Other Protein References for TRBV12-4 Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for TRBV12-4 Gene

Domains & Families for TRBV12-4 Gene

Gene Families for TRBV12-4 Gene

Protein Domains for TRBV12-4 Gene

Suggested Antigen Peptide Sequences for TRBV12-4 Gene

GenScript: Design optimal peptide antigens:
  • V_segment translation product (A0A5A8_HUMAN)
genes like me logo Genes that share domains with TRBV12-4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TRBV12-4 Gene

Function for TRBV12-4 Gene

Molecular function for TRBV12-4 Gene

UniProtKB/Swiss-Prot Function:
V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585).

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TRBV12-4 Gene

Localization for TRBV12-4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRBV12-4 Gene

Cell membrane.

Gene Ontology (GO) - Cellular Components for TRBV12-4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0042101 T cell receptor complex IEA --
genes like me logo Genes that share ontologies with TRBV12-4: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for TRBV12-4 Gene

Pathways & Interactions for TRBV12-4 Gene

PathCards logo

SuperPathways for TRBV12-4 Gene

No Data Available

Interacting Proteins for TRBV12-4 Gene

Gene Ontology (GO) - Biological Process for TRBV12-4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0007166 cell surface receptor signaling pathway IBA 21873635
genes like me logo Genes that share ontologies with TRBV12-4: view

No data available for Pathways by source and SIGNOR curated interactions for TRBV12-4 Gene

Drugs & Compounds for TRBV12-4 Gene

No Compound Related Data Available

Transcripts for TRBV12-4 Gene

mRNA/cDNA for TRBV12-4 Gene

1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for TRBV12-4 Gene

No ASD Table

Relevant External Links for TRBV12-4 Gene

GeneLoc Exon Structure for
TRBV12-4

Expression for TRBV12-4 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TRBV12-4 Gene

Orthologs for TRBV12-4 Gene

Evolution for TRBV12-4 Gene

ENSEMBL:
Gene Tree for TRBV12-4 (if available)
TreeFam:
Gene Tree for TRBV12-4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRBV12-4: view image

No data available for Orthologs for TRBV12-4 Gene

Paralogs for TRBV12-4 Gene

Variants for TRBV12-4 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TRBV12-4 Gene

TVBL4_HUMAN-A0A0B4J2E0
There are several alleles. The sequence shown is that of IMGT alleleTRBV12-4*01.

Additional Variant Information for TRBV12-4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRBV12-4

No data available for Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for TRBV12-4 Gene

Disorders for TRBV12-4 Gene

No disorders were found for TRBV12-4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for TRBV12-4 Gene

Publications for TRBV12-4 Gene

  1. The complete 685-kilobase DNA sequence of the human beta T cell receptor locus. (PMID: 8650574) Rowen L … Hood L (Science (New York, N.Y.) 1996) 2 3
  2. A "hotspot" for autoimmune T cells in type 1 diabetes. (PMID: 27183386) Stadinski BD … Huseby ES (The Journal of clinical investigation 2016) 4
  3. Hotspot autoimmune T cell receptor binding underlies pathogen and insulin peptide cross-reactivity. (PMID: 27183389) Cole DK … Sewell AK (The Journal of clinical investigation 2016) 4
  4. T cell antigen receptor recognition of antigen-presenting molecules. (PMID: 25493333) Rossjohn J … McCluskey J (Annual review of immunology 2015) 4
  5. Immunoglobulin and T Cell Receptor Genes: IMGT(®) and the Birth and Rise of Immunoinformatics. (PMID: 24600447) Lefranc MP (Frontiers in immunology 2014) 4

Products for TRBV12-4 Gene

Sources for TRBV12-4 Gene