LCP2
entrez
3937
canonical
uniprot
Q13094
canonical
ensembl
ENSG00000043462
resolver
ensp
ENSP00000046794
resolver
enst
ENST00000046794
resolver
genesymbol
LCP2
resolver
hgnc
HGNC:6529
resolver
uniprot
A8KA25
resolver
uniprot
Q53XV4
resolver
uniprot_entry
LCP2_HUMAN
resolver
uniprot_sec
A8KA25
resolver
uniprot_sec
Q53XV4
resolver
amino_acid_sequence
MALRNVPFRSEVLGWDPDSLADYFKKLNYKDCEKAVKKYHIDGARFLNLTENDIQKFPKLRVPILSKLSQEINKNEERRSIFTRKPQVPRFPEETESHEEDNGGWSSFEEDDYESPNDDQDGEDDGDYESPNEEEEAPVEDDADYEPPPSNDEEALQNSILPAKPFPNSNSMYIDRPPSGKTPQQPPVPPQRPMAALPPPPAGRNHSPLPPPQTNHEEPSRSRNHKTAKLPAPSIDRSTKPPLDRSLAPFDREPFTLGKKPPFSDKPSIPAGRSLGEHLPKIQKPPLPPTTERHERSSPLPGKKPPVPKHGWGPDRRENDEDDVHQRPLPQPALLPMSSNTFPSRSTKPSPMNPLPSSHMPGAFSESNSSFPQSASLPPYFSQGPSNRPPIRAEGRNFPLPLPNKPRPPSPAEEENSLNEEWYVSYITRPEAEAALRKINQDGTFLVRDSSKKTTTNPYVLMVLYKDKVYNIQIRYQKESQVYLLGTGLRGKEDFLSVSDIIDYFRKMPLLLIDGKNRGSRYQCTLTHAAGYP
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 81 (IMD81) [MIM:619374]: An autosomal recessive disorder characterized by recurrent infections, including fungal infections, associated with T cell, neutrophil, and NK cell dysfunction. B cells may also show maturation abnormalities. Other features include autoimmune hemolytic anemia and abnormal platelet aggregation. {ECO:0000269|PubMed:33231617}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Adapter protein primarily involved in signaling pathways within T-cells, as well as other immune cells such as platelets, mast cells, and natural killer (NK) cells (PubMed:11313406, PubMed:33159816). Plays a crucial role for transducing signal from the T-cell receptor (TCR) after antigen recognition leading to T-cell activation. Mechanistically, once phosphorylated by the kinase ZAP70, mediates interactions with the guanine-nucleotide exchange factor VAV1, the adapter protein NCK and the kinase ITK (PubMed:8673706, PubMed:8702662). In turn, stimulates the activation of PKC-theta/PRKCQ and NF-kappa-B transcriptional activity in response to CD3 and CD28 costimulation (PubMed:11313406). Also plays an essential role in AGER-induced signaling pathways including p38 MAPK and ERK1/2 activation leading to cytokine release and pro-inflammatory responses (PubMed:33436632). {ECO:0000269|PubMed:11313406, ECO:0000269|PubMed:33436632, ECO:0000269|PubMed:8673706, ECO:0000269|PubMed:8702662}.
uniprot
proteins
mass_dalton
60188
uniprot
proteins
post_translational_modification
PTM: Phosphorylated after T-cell receptor activation by ZAP70, ITK and TXK, which leads to the up-regulation of Th1 preferred cytokine IL-2. SYK-dependent phosphorylation is required for recruitment of PI3K signaling components. {ECO:0000269|PubMed:15388330, ECO:0000269|PubMed:21725281}.
uniprot
proteins
pubmed
11301322
uniprot
proteins
pubmed
11313406
uniprot
proteins
pubmed
12084069
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15144186
uniprot
proteins
pubmed
15388330
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16914752
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
21725281
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24584089
uniprot
proteins
pubmed
27335501
uniprot
proteins
pubmed
33159816
uniprot
proteins
pubmed
33231617
uniprot
proteins
pubmed
33436632
uniprot
proteins
pubmed
7706237
uniprot
proteins
pubmed
8673706
uniprot
proteins
pubmed
8702662
uniprot
proteins
sequence_length
533
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
uniprot
proteins