GTF2IRD2B
entrez
389524
canonical
uniprot
Q6EKJ0
canonical
ensembl
ENSG00000174428
resolver
ensp
ENSP00000480524
resolver
ensp
ENSP00000481706
resolver
ensp
ENSP00000499147
resolver
genesymbol
GTF2IRD2B
resolver
hgnc
HGNC:33125
resolver
uniprot
B2RNE9
resolver
uniprot
Q69GU6
resolver
uniprot
Q8N979
resolver
uniprot
Q9H739
resolver
uniprot_entry
GTD2B_HUMAN
resolver
uniprot_sec
B2RNE9
resolver
uniprot_sec
Q69GU6
resolver
uniprot_sec
Q8N979
resolver
uniprot_sec
Q9H739
resolver
amino_acid_sequence
MAQVAVSTLPVEEESSSETRMVVTFLVSALESMCKELAKSKAEVACIAVYETDVFVVGTERGCAFVNARTDFQKDFAKYCVAEGLCEVKPPCPVNGMQVHSGETEILRKAVEDYFCFCYGKALGTTVMVPVPYEKMLRDQSAVVVQGLPEGVAFQHPENYDLATLKWILENKAGISFIINRPFLGPESQLGGPGMVTDAERSIVSPSESCGPINVKTEPMEDSGISLKAEAVSVKKESEDPNYYQYNMQGSHPSSTSNEVIEMELPMEDSTPLVPSEEPNEDPEAEVKIEGNTNSSSVTNSAAGVEDLNIVQVTVPDNEKERLSSIEKIKQLREQVNDLFSRKFGEAIGVDFPVKVPYRKITFNPGCVVIDGMPPGVVFKAPGYLEISSMRRILEAAEFIKFTVIRPLPGLELSNVGKRKIDQEGRVFQEKWERAYFFVEVQNIPTCLICKQSMSVSKEYNLRRHYQTNHSKHYDQYTERMRDEKLHELKKGLRKYLLGSSDTECPEQKQVFANPSPTQKSPVQPVEDLAGNLWEKLREKIRSFVAYSIAIDEITDINNTTQLAIFIRGVDENFDVSEELLDTVPMTGTKSGNEIFLRVEKSLKKFCINWSRLVSVASTGTPAMVDANNGLVTKLKSRVATFCKGAELKSICCIIHPESLCAQKLKMDHVMDVVVKSVNWICSRGLNHSEFTTLLYELDSQYGSLLYYTEIKWLSRGLVLKRFFESLEEIDSFMSSRGKPLPQLSSIDWIRDLAFLVDMTMHLNALNISLQGHSQIVTQMYDLIRAFLAKLCLWETHLTRNNLAHFPTLKLVSRNESDGLNYIPKIAELKTEFQKRLSDFKLYESELTLFSSPFSTKIDSVHEELQMEVIDLQCNTVLKTKYDKVGIPEFYKYLWGSYPKYKHHCAKILSMFGSTYICEQLFSIMKLSKTKYCSQLKDSQWDSVLHIAT
uniprot
proteins
disease_involvement
DISEASE: Note=GTF2IRD2B is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region (PubMed:16532385). {ECO:0000269|PubMed:16532385}.
uniprot
proteins
mass_dalton
107233
uniprot
proteins
protein_family
TFII-I family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15100712
uniprot
proteins
pubmed
15388857
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16532385
uniprot
proteins
sequence_length
949
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins