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CD6 CD6 molecule [ Homo sapiens (human) ]

Gene ID: 923, updated on 23-Sep-2014
Official Symbol
CD6provided by HGNC
Official Full Name
CD6 moleculeprovided by HGNC
Primary source
HGNC:HGNC:1691
See related
Ensembl:ENSG00000013725; HPRD:01724; MIM:186720; Vega:OTTHUMG00000167823
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TP120
Summary
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]
Location:
11q13
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 11 NC_000011.10 (60971641..61020377)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (60739113..60787849)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene transmembrane protein 109 Neighboring gene transmembrane protein 132A Neighboring gene solute carrier family 15 (oligopeptide transporter), member 3 Neighboring gene transfer RNA-Ala (TGC) 10-1 Neighboring gene CD5 molecule Neighboring gene vacuolar protein sorting 37 homolog C (S. cerevisiae)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
NHGRI GWA Catalog
Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data.
NHGRI GWA Catalog
  • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
    Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
  • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
    Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ44171

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
 
scavenger receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
receptor-mediated endocytosis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
T-cell differentiation antigen CD6
Names
T-cell differentiation antigen CD6
T12
CD6 antigen

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001254750.1NP_001241679.1  T-cell differentiation antigen CD6 isoform 2 precursor

    See proteins identical to NP_001241679.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 3' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AI657093, AP003721, U66145
    Consensus CDS
    CCDS58138.1
    UniProtKB/Swiss-Prot
    P30203
    Conserved Domains (2) summary
    smart00202
    Location:161260
    SR; Scavenger receptor Cys-rich
    pfam00530
    Location:48156
    SRCR; Scavenger receptor cysteine-rich domain
  2. NM_001254751.1NP_001241680.1  T-cell differentiation antigen CD6 isoform 3 precursor

    See proteins identical to NP_001241680.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The resulting protein (isoform 3) is shorter compared to isoform 1.
    Source sequence(s)
    AI657093, AP003721, U66146
    Consensus CDS
    CCDS58137.1
    UniProtKB/Swiss-Prot
    P30203
    Conserved Domains (2) summary
    smart00202
    Location:161260
    SR; Scavenger receptor Cys-rich
    pfam00530
    Location:48156
    SRCR; Scavenger receptor cysteine-rich domain
  3. NM_006725.4NP_006716.3  T-cell differentiation antigen CD6 isoform 1 precursor

    See proteins identical to NP_006716.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    BC033755, BC078669, DB155411
    Consensus CDS
    CCDS7999.1
    UniProtKB/Swiss-Prot
    P30203
    UniProtKB/TrEMBL
    Q6AZ88
    UniProtKB/TrEMBL
    Q8N4Q7
    Related
    ENSP00000323280, OTTHUMP00000236965, ENST00000313421, OTTHUMT00000396449
    Conserved Domains (2) summary
    smart00202
    Location:161260
    SR; Scavenger receptor Cys-rich
    pfam00530
    Location:48156
    SRCR; Scavenger receptor cysteine-rich domain

RNA

  1. NR_045638.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in an internal exon and lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI657093, AP003721, DB155411, X60992

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 

    Range
    60971641..61020377
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718739.1XP_006718802.1  

    Conserved Domains (2) summary
    smart00202
    Location:161260
    SR; Scavenger receptor Cys-rich
    pfam00530
    Location:48156
    SRCR; Scavenger receptor cysteine-rich domain
  2. XM_006718740.1XP_006718803.1  

    Conserved Domains (2) summary
    smart00202
    Location:161260
    SR; Scavenger receptor Cys-rich
    pfam00530
    Location:48156
    SRCR; Scavenger receptor cysteine-rich domain
  3. XM_006718738.1XP_006718801.1  

    UniProtKB/Swiss-Prot
    P30203
    Conserved Domains (2) summary
    smart00202
    Location:161260
    SR; Scavenger receptor Cys-rich
    pfam00530
    Location:48156
    SRCR; Scavenger receptor cysteine-rich domain
  4. XM_006718741.1XP_006718804.1  

    See proteins identical to XP_006718804.1

    UniProtKB/Swiss-Prot
    P30203
    Conserved Domains (2) summary
    smart00202
    Location:161260
    SR; Scavenger receptor Cys-rich
    pfam00530
    Location:48156
    SRCR; Scavenger receptor cysteine-rich domain

Alternate HuRef

Genomic

  1. AC_000143.1 

    Range
    57085244..57134039
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 

    Range
    60605326..60654240
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)