Human Gene CD6 (uc001nqq.3)
  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 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:60,739,113-60,787,848)mRNA (may differ from genome)Protein (668 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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.

-  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


-  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:
  1. 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]
  2. 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]

-  MalaCards Disease Associations
  MalaCards Gene Search: CD6
Diseases sorted by gene-association score: bronchus cancer (19), inflammatory bowel disease 16 (11), lower lip cancer (11), epidural neoplasm (10), tonsil cancer (9), finger agnosia (9), oropharynx cancer (8), supraglottis cancer (7), rectal disease (7), horner's syndrome (6), breast abscess (6), pharynx cancer (5), anus cancer (5), polyradiculopathy (5), hypopharynx cancer (5), transverse colon cancer (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 13.59 RPKM in Spleen
Total median expression: 55.48 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -64.90225-0.288 Picture PostScript Text
3' UTR -458.401058-0.433 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
IPR001190 - Srcr_rcpt
IPR017448 - Srcr_rcpt-rel

Pfam Domains:
PF00530 - Scavenger receptor cysteine-rich domain

SCOP Domains:
56487 - SRCR-like

ModBase Predicted Comparative 3D Structure on P30203
FrontTopSide
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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001530 lipopolysaccharide binding
GO:0005044 scavenger receptor activity
GO:0005515 protein binding
GO:0042802 identical protein binding
GO:0070891 lipoteichoic acid binding

Biological Process:
GO:0001771 immunological synapse formation
GO:0002250 adaptive immune response
GO:0002376 immune system process
GO:0002438 acute inflammatory response to antigenic stimulus
GO:0006898 receptor-mediated endocytosis
GO:0007155 cell adhesion
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules
GO:0031663 lipopolysaccharide-mediated signaling pathway
GO:0032496 response to lipopolysaccharide
GO:0042102 positive regulation of T cell proliferation
GO:0045087 innate immune response
GO:1900017 positive regulation of cytokine production involved in inflammatory response

Cellular Component:
GO:0001772 immunological synapse
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031226 intrinsic component of plasma membrane
GO:0042101 T cell receptor complex


-  Descriptions from all associated GenBank mRNAs
  LP895219 - Sequence 83 from Patent EP3253886.
AK312749 - Homo sapiens cDNA, FLJ93158.
AK128419 - Homo sapiens cDNA FLJ46562 fis, clone THYMU3040172, highly similar to T-cell differentiation antigen CD6 precursor.
BC078669 - Homo sapiens CD6 molecule, mRNA (cDNA clone MGC:88709 IMAGE:6302947), complete cds.
BC033755 - Homo sapiens CD6 molecule, mRNA (cDNA clone MGC:45196 IMAGE:5213263), complete cds.
X60992 - H.sapiens CD6 mRNA for T cell glycoprotein CD6.
AK292704 - Homo sapiens cDNA FLJ76332 complete cds, highly similar to Homo sapiens CD6 antigen (CD6), mRNA.
KJ896561 - Synthetic construct Homo sapiens clone ccsbBroadEn_05955 CD6 gene, encodes complete protein.
DQ786329 - Homo sapiens CD6deltaD3 (CD6) mRNA, partial cds, alternatively spliced.
DQ786330 - Homo sapiens CD6deltaD3Ex6 (CD6) mRNA, partial cds, alternatively spliced.
U66142 - Human CD6a mRNA, complete cds.
U66145 - Human CD6d mRNA, complete cds.
U66146 - Human CD6e mRNA, complete cds.
AK126159 - Homo sapiens cDNA FLJ44171 fis, clone THYMU2036058.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04514 - Cell adhesion molecules (CAMs)

-  Other Names for This Gene
  Alternate Gene Symbols: CD6_HUMAN, NM_006725, NP_006716, P30203, Q9UMF2, Q9Y4K7, Q9Y4K8, Q9Y4K9, Q9Y4L0
UCSC ID: uc001nqq.3
RefSeq Accession: NM_006725
Protein: P30203 (aka CD6_HUMAN)
CCDS: CCDS7999.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_006725.4
exon count: 13CDS single in 3' UTR: no RNA size: 3309
ORF size: 2007CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3090.50frame shift in genome: no % Coverage: 99.43
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.