Description: Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA. RefSeq Summary (NM_006725): This gene encodes a protein found on the outer membrane of T-lymphocytes as well as some other immune cells. The encoded protein contains three scavenger receptor cysteine-rich (SRCR) domains and a binding site for an activated leukocyte cell adhesion molecule. The gene product is important for continuation of T cell activation. This gene may be associated with susceptibility to multiple sclerosis (PMID: 19525953, 21849685). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]. Transcript (Including UTRs) Position: hg19 chr11:60,739,113-60,787,848 Size: 48,736 Total Exon Count: 13 Strand: + Coding Region Position: hg19 chr11:60,739,338-60,786,790 Size: 47,453 Coding Exon Count: 13
ID:CD6_HUMAN DESCRIPTION: RecName: Full=T-cell differentiation antigen CD6; AltName: Full=T12; AltName: Full=TP120; AltName: CD_antigen=CD6; Flags: Precursor; FUNCTION: Involved in cell adhesion. Binds to CD166. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. TISSUE SPECIFICITY: Expressed by thymocytes, mature T-cells, a subset of B-cells known as B-1 cells, and by some cells in the brain. PTM: After T-cell activation, becomes hyperphosphorylated on Ser and Thr residues and phosphorylated on Tyr residues. PTM: Contains intrachain disulfide bond(s). SIMILARITY: Contains 3 SRCR domains.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): CD6 CDC HuGE Published Literature: CD6 Positive Disease Associations: multiple sclerosis Related Studies:
multiple sclerosis De Jager ,et al. 2009, Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci, Nature genetics 2009 41- 7 : 776-82.
[PubMed 19525953]
Multiple Sclerosis Philip L De Jager et al. Nature genetics 2009, Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci., Nature genetics.
[PubMed 19525953]
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 P30203
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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.