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The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein. The protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the immune response. It may also function in antigen presentation. Alternative splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
CD96 (CD96 Molecule) is a Protein Coding gene. Diseases associated with CD96 include C Syndrome and Leukemia, Acute Myeloid. Among its related pathways are Hematopoietic Stem Cells and Lineage-specific Markers and Innate Immune System.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IDA | 17847009 |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 1313846 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002534 | cytokine production involved in inflammatory response | IEA | -- |
GO:0002728 | negative regulation of natural killer cell cytokine production | IEA | -- |
GO:0006954 | inflammatory response | IBA | 21873635 |
GO:0006955 | immune response | TAS | 1313846 |
GO:0007155 | cell adhesion | TAS | 1313846 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||
SP2: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CD96 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CD96 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CD96 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cd96 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Cd96 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CD96 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CD96 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CD96 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709665 | Likely Benign: not provided | 111,598,123(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
734812 | Likely Benign: not provided | 111,638,080(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
739334 | Likely Benign: not provided | 111,638,128(+) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
739554 | Likely Benign: not provided | 111,647,649(+) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
747257 | Likely Benign: not provided | 111,638,143(+) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2577n106 | OTHER | inversion | 24896259 |
esv3305667 | CNV | mobile element insertion | 20981092 |
esv3366991 | CNV | duplication | 20981092 |
esv3374376 | CNV | insertion | 20981092 |
esv3392024 | CNV | insertion | 20981092 |
nsv1124873 | CNV | duplication | 24896259 |
nsv3946 | CNV | deletion | 18451855 |
nsv433354 | CNV | loss | 18776910 |
nsv460821 | CNV | gain | 19166990 |
nsv591275 | CNV | gain | 21841781 |
nsv965196 | CNV | duplication | 23825009 |
nsv997756 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
c syndrome |
|
|
leukemia, acute myeloid |
|
|