CD96
entrez
10225
canonical
uniprot
P40200
canonical
ensembl
ENSG00000153283
resolver
ensp
ENSP00000283285
resolver
ensp
ENSP00000342040
resolver
ensp
ENSP00000389801
resolver
ensp
ENSP00000417152
resolver
ensp
ENSP00000532514
resolver
enst
ENST00000438817
resolver
enst
ENST00000494798
resolver
enst
ENST00000862455
resolver
genesymbol
CD96
resolver
hgnc
HGNC:16892
resolver
uniprot
E9PEJ1
resolver
uniprot
F6RDM0
resolver
uniprot
Q5JPB3
resolver
uniprot
Q8WUE2
resolver
uniprot_entry
E9PEJ1_HUMAN
resolver
uniprot_entry
F6RDM0_HUMAN
resolver
uniprot_entry
Q8WUE2_HUMAN
resolver
uniprot_entry
TACT_HUMAN
resolver
uniprot_sec
Q5JPB3
resolver
amino_acid_sequence
MEKKWKYCAVYYIIQIHFVKGVWEKTVNTEENVYATLGSDVNLTCQTQTVGFFVQMQWSKVTNKIDLIAVYHPQYGFYCAYGRPCESLVTFTETPENGSKWTLHLRNMSCSVSGRYECMLVLYPEGIQTKIYNLLIQTHVTADEWNSNHTIEIEINQTLEIPCFQNSSSKISSEFTYAWSVENSSTDSWVLLSKGIKEDNGTQETLISQNHLISNSTLLKDRVKLGTDYRLHLSPVQIFDDGRKFSCHIRVGPNKILRSSTTVKVFAKPEIPVIVENNSTDVLVERRFTCLLKNVFPKANITWFIDGSFLHDEKEGIYITNEERKGKDGFLELKSVLTRVHSNKPAQSDNLTIWCMALSPVPGNKVWNISSEKITFLLGSEISSTDPPLSVTESTLDTQPSPASSVSPARYPATSSVTLVDVSALRPNTTPQPSNSSMTTRGFNYPWTSSGTDTKKSVSRIPSETYSSSPSGAGSTLHDNVFTSTARAFSEVPTTANGSTKTNHVHITGIVVNKPKDGMSWPVIVAALLFCCMILFGLGVRKWCQYQKEIMERPPPFKPPPPPIKYTCIQEPNESDLPYHEMETL
uniprot
proteins
disease_involvement
DISEASE: C syndrome (CSYN) [MIM:211750]: A syndrome characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. {ECO:0000269|PubMed:17847009}. Note=The disease is caused by variants affecting the gene represented in this entry. A chromosomal aberration involving CD96 has been found in a patient with C syndrome. Translocation t(3;18)(q13.13;q12.1). CD96 gene was located at the 3q13.13 breakpoint. Precise structural analysis around the breakpoint showed that the gene was disrupted by the translocation in exon 5, probably leading to premature termination or loss of expression of CD96 protein. No gene was detected at the chromosome 18 breakpoint.
uniprot
proteins
function
FUNCTION: May be involved in adhesive interactions of activated T and NK cells during the late phase of the immune response. Promotes NK cell-target adhesion by interacting with PVR present on target cells. May function at a time after T and NK cells have penetrated the endothelium using integrins and selectins, when they are actively engaging diseased cells and moving within areas of inflammation.
uniprot
proteins
mass_dalton
65634
uniprot
proteins
pubmed
1313846
uniprot
proteins
pubmed
15034010
uniprot
proteins
pubmed
17847009
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19349973
uniprot
proteins
sequence_length
585
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 520..540; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins