Description: Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) (LCP2), mRNA. RefSeq Summary (NM_005565): This gene encodes an adapter protein that acts as a substrate of the T cell antigen receptor (TCR)-activated protein tyrosine kinase pathway. The encoded protein associates with growth factor receptor bound protein 2, and is thought to play a role TCR-mediated intracellular signal transduction. A similar protein in mouse plays a role in normal T-cell development and activation. Mice lacking this gene show subcutaneous and intraperitoneal fetal hemorrhaging, dysfunctional platelets and impaired viability. [provided by RefSeq, Nov 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Transcript (Including UTRs) Position: hg19 chr5:169,675,088-169,724,822 Size: 49,735 Total Exon Count: 21 Strand: - Coding Region Position: hg19 chr5:169,675,701-169,724,615 Size: 48,915 Coding Exon Count: 21
ID:LCP2_HUMAN DESCRIPTION: RecName: Full=Lymphocyte cytosolic protein 2; AltName: Full=SH2 domain-containing leukocyte protein of 76 kDa; AltName: Full=SLP-76 tyrosine phosphoprotein; Short=SLP76; FUNCTION: Involved in T-cell antigen receptor mediated signaling. SUBUNIT: Interacts with SLA. Interacts with CBLB (By similarity). Interacts with the adapter proteins GRB2 and FYB. Interacts with SHB. Interacts with PRAM1. INTERACTION: Q8IVH8:MAP4K3; NbExp=5; IntAct=EBI-346946, EBI-1758170; Q99JP0:Map4k3 (xeno); NbExp=2; IntAct=EBI-346946, EBI-5324222; SUBCELLULAR LOCATION: Cytoplasm (Probable). TISSUE SPECIFICITY: Highly expressed in spleen, thymus and peripheral blood leukocytes. Highly expressed also in T-cell and monocytic cell lines, expressed at lower level in B-cell lines. Not detected in fibroblast or neuroblastoma cell lines. DOMAIN: The SH2 domain mediates interaction with SHB. PTM: Phosphorylated after T-cell receptor activation by ZAP70, ITK and TXK, which leads to the up-regulation of Th1 preferred cytokine IL-2. SYK-dependent phosphorylation is required for recruitment of PI3K signaling components. SIMILARITY: Contains 1 SAM (sterile alpha motif) domain. SIMILARITY: Contains 1 SH2 domain.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): LCP2 CDC HuGE Published Literature: LCP2 Positive Disease Associations: Exercise Test Related Studies:
Exercise Test Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903301]
In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
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.
ModBase Predicted Comparative 3D Structure on Q13094
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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.