IRF2BP2
entrez
359948
canonical
uniprot
Q7Z5L9
canonical
ensembl
ENSG00000168264
resolver
ensp
ENSP00000355568
resolver
ensp
ENSP00000355569
resolver
genesymbol
IRF2BP2
resolver
hgnc
HGNC:21729
resolver
uniprot
B1AM35
resolver
uniprot
B1AM36
resolver
uniprot
Q6P083
resolver
uniprot
Q7Z5L8
resolver
uniprot
Q8N351
resolver
uniprot
Q8WUH8
resolver
uniprot_entry
I2BP2_HUMAN
resolver
uniprot_sec
B1AM35
resolver
uniprot_sec
B1AM36
resolver
uniprot_sec
Q6P083
resolver
uniprot_sec
Q7Z5L8
resolver
uniprot_sec
Q8N351
resolver
uniprot_sec
Q8WUH8
resolver
amino_acid_sequence
MAAAVAVAAASRRQSCYLCDLPRMPWAMIWDFTEPVCRGCVNYEGADRVEFVIETARQLKRAHGCFPEGRSPPGAAASAAAKPPPLSAKDILLQQQQQLGHGGPEAAPRAPQALERYPLAAAAERPPRLGSDFGSSRPAASLAQPPTPQPPPVNGILVPNGFSKLEEPPELNRQSPNPRRGHAVPPTLVPLMNGSATPLPTALGLGGRAAASLAAVSGTAAASLGSAQPTDLGAHKRPASVSSSAAVEHEQREAAAKEKQPPPPAHRGPADSLSTAAGAAELSAEGAGKSRGSGEQDWVNRPKTVRDTLLALHQHGHSGPFESKFKKEPALTAGRLLGFEANGANGSKAVARTARKRKPSPEPEGEVGPPKINGEAQPWLSTSTEGLKIPMTPTSSFVSPPPPTASPHSNRTTPPEAAQNGQSPMAALILVADNAGGSHASKDANQVHSTTRRNSNSPPSPSSMNQRRLGPREVGGQGAGNTGGLEPVHPASLPDSSLATSAPLCCTLCHERLEDTHFVQCPSVPSHKFCFPCSRQSIKQQGASGEVYCPSGEKCPLVGSNVPWAFMQGEIATILAGDVKVKKERDS
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency, common variable, 14 (CVID14) [MIM:617765]: A primary immunodeficiency resulting in recurrent sinopulmonary infections since early childhood, and characterized by hypogammaglobulinemia with undetectable IgG and IgA, poor response to vaccination, and decreased levels of switched memory B cells. CVID14 inheritance is autosomal dominant. {ECO:0000269|PubMed:27016798}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a transcriptional corepressor in a IRF2-dependent manner; this repression is not mediated by histone deacetylase activities (PubMed:12799427). Represses the NFAT1-dependent transactivation of NFAT-responsive promoters (PubMed:21576369). Acts as a coactivator of VEGFA expression in cardiac and skeletal muscles (PubMed:20702774). Plays a role in immature B-cell differentiation (PubMed:27016798). {ECO:0000269|PubMed:12799427, ECO:0000269|PubMed:20702774, ECO:0000269|PubMed:21576369, ECO:0000269|PubMed:27016798}.
uniprot
proteins
mass_dalton
61025
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Ser-360 is required for nuclear targeting. {ECO:0000269|PubMed:21887377}.
uniprot
proteins
protein_family
IRF2BP family
uniprot
proteins
pubmed
12799427
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17924679
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20702774
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21576369
uniprot
proteins
pubmed
21887377
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
27016798
uniprot
proteins
pubmed
28112733
uniprot
proteins
sequence_length
587
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
uniprot
proteins