DOCK2
entrez
1794
canonical
uniprot
Q92608
canonical
ensembl
ENSG00000134516
resolver
ensp
ENSP00000428841
resolver
ensp
ENSP00000429283
resolver
ensp
ENSP00000778585
resolver
ensp
ENSP00000793365
resolver
enst
ENST00000519628
resolver
genesymbol
DOCK2
resolver
genesymbol_syn
KIAA0209
resolver
hgnc
HGNC:2988
resolver
uniprot
H0YB76
resolver
uniprot
Q2M3I0
resolver
uniprot
Q5XG91
resolver
uniprot
Q96AK7
resolver
uniprot_entry
DOCK2_HUMAN
resolver
uniprot_entry
H0YB76_HUMAN
resolver
uniprot_entry
Q5XG91_HUMAN
resolver
uniprot_sec
Q2M3I0
resolver
uniprot_sec
Q96AK7
resolver
amino_acid_sequence
MAPWRKADKERHGVAIYNFQGSGAPQLSLQIGDVVRIQETCGDWYRGYLIKHKMLQGIFPKSFIHIKEVTVEKRRNTENIIPAEIPLAQEVTTTLWEWGSIWKQLYVASKKERFLQVQSMMYDLMEWRSQLLSGTLPKDELKELKQKVTSKIDYGNKILELDLIVRDEDGNILDPDNTSVISLFHAHEEATDKITERIKEEMSKDQPDYAMYSRISSSPTHSLYVFVRNFVCRIGEDAELFMSLYDPNKQTVISENYLVRWGSRGFPKEIEMLNNLKVVFTDLGNKDLNRDKIYLICQIVRVGKMDLKDTGAKKCTQGLRRPFGVAVMDITDIIKGKAESDEEKQHFIPFHPVTAENDFLHSLLGKVIASKGDSGGQGLWVTMKMLVGDIIQIRKDYPHLVDRTTVVARKLGFPEIIMPGDVRNDIYITLLQGDFDKYNKTTQRNVEVIMCVCAEDGKTLPNAICVGAGDKPMNEYRSVVYYQVKQPRWMETVKVAVPIEDMQRIHLRFMFRHRSSLESKDKGEKNFAMSYVKLMKEDGTTLHDGFHDLVVLKGDSKKMEDASAYLTLPSYRHHVENKGATLSRSSSSVGGLSVSSRDVFSISTLVCSTKLTQNVGLLGLLKWRMKPQLLQENLEKLKIVDGEEVVKFLQDTLDALFNIMMEHSQSDEYDILVFDALIYIIGLIADRKFQHFNTVLEAYIQQHFSATLAYKKLMTVLKTYLDTSSRGEQCEPILRTLKALEYVFKFIVRSRTLFSQLYEGKEQMEFEESMRRLFESINNLMKSQYKTTILLQVAALKYIPSVLHDVEMVFDAKLLSQLLYEFYTCIPPVKLQKQKVQSMNEIVQSNLFKKQECRDILLPVITKELKELLEQKDDMQHQVLERKYCVELLNSILEVLSYQDAAFTYHHIQEIMVQLLRTVNRTVITMGRDHILISHFVACMTAILNQMGDQHYSFYIETFQTSSELVDFLMETFIMFKDLIGKNVYPGDWMAMSMVQNRVFLRAINKFAETMNQKFLEHTNFEFQLWNNYFHLAVAFITQDSLQLEQFSHAKYNKILNKYGDMRRLIGFSIRDMWYKLGQNKICFIPGMVGPILEMTLIPEAELRKATIPIFFDMMLCEYQRSGDFKKFENEIILKLDHEVEGGRGDEQYMQLLESILMECAAEHPTIAKSVENFVNLVKGLLEKLLDYRGVMTDESKDNRMSCTVNLLNFYKDNNREEMYIRYLYKLRDLHLDCDNYTEAAYTLLLHTWLLKWSDEQCASQVMQTGQQHPQTHRQLKETLYETIIGYFDKGKMWEEAISLCKELAEQYEMEIFDYELLSQNLIQQAKFYESIMKILRPKPDYFAVGYYGQGFPSFLRNKVFIYRGKEYERREDFQMQLMTQFPNAEKMNTTSAPGDDVKNAPGQYIQCFTVQPVLDEHPRFKNKPVPDQIINFYKSNYVQRFHYSRPVRRGTVDPENEFASMWIERTSFVTAYKLPGILRWFEVVHMSQTTISPLENAIETMSTANEKILMMINQYQSDETLPINPLSMLLNGIVDPAVMGGFAKYEKAFFTEEYVRDHPEDQDKLTHLKDLIAWQIPFLGAGIKIHEKRVSDNLRPFHDRMEECFKNLKMKVEKEYGVREMPDFDDRRVGRPRSMLRSYRQMSIISLASMNSDCSTPSKPTSESFDLELASPKTPRVEQEEPISPGSTLPEVKLRRSKKRTKRSSVVFADEKAAAESDLKRLSRKHEFMSDTNLSEHAAIPLKASVLSQMSFASQSMPTIPALALSVAGIPGLDEANTSPRLSQTFLQLSDGDKKTLTRKKVNQFFKTMLASKSAEEGKQIPDSLSTDL
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 40 (IMD40) [MIM:616433]: A form of combined immunodeficiency characterized by lymphopenia, and defective T-cell, B-cell, and NK-cell responses. Patients suffer from severe invasive bacterial and viral infections in early childhood and may die without bone marrow transplantation. {ECO:0000269|PubMed:26083206}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Guanine nucleotide exchange factor (GEF) that activates monomeric GTPases by catalysing the release of bound GDP in exchange for free GTP (PubMed:32651375). Activates RAC1 and RAC2, but not CDC42 (PubMed:21613211, PubMed:32651375). Involved in cytoskeletal rearrangements required for lymphocyte migration in response of chemokines (PubMed:21613211). May also participate in IL2 transcriptional activation via the activation of RAC2 (PubMed:21613211). {ECO:0000269|PubMed:21613211, ECO:0000269|PubMed:32651375}.
uniprot
proteins
mass_dalton
211948
uniprot
proteins
mutagenesis
MUTAGEN 209..213; /note="YAMYS->EAMEE: Increases activity."; /evidence="ECO:0000269|PubMed:32651375
uniprot
proteins
protein_family
DOCK family
uniprot
proteins
pubmed
10559471
uniprot
proteins
pubmed
12176041
uniprot
proteins
pubmed
12393632
uniprot
proteins
pubmed
12432077
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
15144186
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19367720
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21613211
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26083206
uniprot
proteins
pubmed
32651375
uniprot
proteins
pubmed
9039502
uniprot
proteins
sequence_length
1830
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000269|PubMed:12393632}; Peripheral membrane protein {ECO:0000269|PubMed:12393632}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:12393632}. Note=Colocalizes with F-actin.
uniprot
proteins