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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]
CD6 (CD6 Molecule) is a Protein Coding gene. Diseases associated with CD6 include Inflammatory Bowel Disease 16 and Finger Agnosia. Among its related pathways are Cell adhesion molecules (CAMs). Gene Ontology (GO) annotations related to this gene include scavenger receptor activity. An important paralog of this gene is DMBT1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001530 | lipopolysaccharide binding | IDA | 17601777 |
GO:0005044 | scavenger receptor activity | IEA | -- |
GO:0005515 | protein binding | IPI | 24584089 |
GO:0042802 | identical protein binding | IPI | 26146185 |
GO:0070891 | lipoteichoic acid binding | IMP | 17601777 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001772 | immunological synapse | IDA | 15294938 |
GO:0005576 | extracellular region | IEA | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0005887 | integral component of plasma membrane | TAS | 1919444 |
GO:0009897 | external side of plasma membrane | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cell adhesion molecules (CAMs) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001771 | immunological synapse formation | IMP | 15294938 |
GO:0002250 | adaptive immune response | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0002438 | acute inflammatory response to antigenic stimulus | IDA | 17601777 |
GO:0006897 | endocytosis | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15a | · | 15b | ^ | 16a | · | 16b | · | 16c | · | 16d | ^ | 17 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: |
ExUns: | 18a | · | 18b | ^ | 19a | · | 19b | · | 19c |
---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||
SP2: | |||||||||
SP3: | |||||||||
SP4: | - | - | |||||||
SP5: | - | - | |||||||
SP6: | - | - | |||||||
SP7: | |||||||||
SP8: | |||||||||
SP9: | |||||||||
SP10: | |||||||||
SP11: | |||||||||
SP12: | |||||||||
SP13: | |||||||||
SP14: | |||||||||
SP15: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | CD6 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | CD6 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | CD6 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Cd6 32 |
|
||
mouse (Mus musculus) |
Mammalia | Cd6 17 33 32 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | CD6 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | CD6 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
lizard (Anolis carolinensis) |
Reptilia | CD6 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100497305 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | CD6 (2 of 2) 33 |
|
OneToMany | |
CD6 (1 of 2) 33 |
|
OneToMany |
SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000084417 | -- | 60,999,750(+) | T/C | intron_variant | |
rs1000090924 | -- | 60,975,947(+) | C/A | intron_variant | |
rs1000231461 | -- | 60,977,613(+) | C/T | intron_variant | |
rs1000232495 | -- | 61,006,026(+) | C/T | intron_variant | |
rs1000254197 | -- | 60,970,499(+) | G/C | upstream_transcript_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1212n100 | CNV | gain | 25217958 |
esv1472305 | CNV | insertion | 17803354 |
esv2760588 | CNV | gain+loss | 21179565 |
esv3365476 | CNV | duplication | 20981092 |
esv3414510 | CNV | insertion | 20981092 |
nsv1040352 | CNV | loss | 25217958 |
nsv1140480 | CNV | tandem duplication | 24896259 |
nsv39214 | CNV | insertion | 16902084 |
nsv468580 | CNV | loss | 19166990 |
nsv555153 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
inflammatory bowel disease 16 |
|
|
finger agnosia |
|
|
dyscalculia |
|
|
supraglottis cancer |
|
|
multiple sclerosis |
|
|