GTF2IRD2
entrez
84163
canonical
uniprot
Q86UP8
canonical
ensembl
ENSG00000174428
resolver
ensembl
ENSG00000196275
resolver
ensembl
ENSG00000289346
resolver
ensp
ENSP00000406723
resolver
ensp
ENSP00000481017
resolver
ensp
ENSP00000498563
resolver
ensp
ENSP00000577852
resolver
ensp
ENSP00000577854
resolver
ensp
ENSP00000577858
resolver
ensp
ENSP00000577859
resolver
ensp
ENSP00000636580
resolver
ensp
ENSP00000636584
resolver
enst
ENST00000651129
resolver
genesymbol
GTF2IRD2
resolver
genesymbol_syn
GTF2IRD2A
resolver
hgnc
HGNC:30775
resolver
uniprot
A0A0A0MSY2
resolver
uniprot
A0A494C0I1
resolver
uniprot
A8K5W6
resolver
uniprot
B3KUZ2
resolver
uniprot
Q69G40
resolver
uniprot
Q6EKI8
resolver
uniprot
Q6EKI9
resolver
uniprot
Q6NVW2
resolver
uniprot
Q6P7N8
resolver
uniprot
Q86WX4
resolver
uniprot
Q8ND85
resolver
uniprot
Q8NDE5
resolver
uniprot_entry
A0A494C0I1_HUMAN
resolver
uniprot_entry
GTD2A_HUMAN
resolver
uniprot_sec
A0A0A0MSY2
resolver
uniprot_sec
A8K5W6
resolver
uniprot_sec
B3KUZ2
resolver
uniprot_sec
Q69G40
resolver
uniprot_sec
Q6EKI8
resolver
uniprot_sec
Q6EKI9
resolver
uniprot_sec
Q6NVW2
resolver
uniprot_sec
Q6P7N8
resolver
uniprot_sec
Q86WX4
resolver
uniprot_sec
Q8ND85
resolver
uniprot_sec
Q8NDE5
resolver
amino_acid_sequence
MAQVAVSTLPVEEESSSETRMVVTFLVSALESMCKELAKSKAEVACIAVYETDVFVVGTERGCAFVNARTDFQKDFAKYCVAEGLCEVKPPCPVNGMQVHSGETEILRKAVEDYFCFCYGKALGTTVMVPVPYEKMLRDQSAVVVQGLPEGVAFQHPENYDLATLKWILENKAGISFIINRPFLGPESQLGGPGMVTDAERSIVSPSESCGPINVKTEPMEDSGISLKAEAVSVKKESEDPNYYQYNMQGSHPSSTSNEVIEMELPMEDSTPLVPSEEPNEDPEAEVKIEGNTNSSSVTNSAAGVEDLNIVQVTVPDNEKERLSSIEKIKQLREQVNDLFSRKFGEAIGVDFPVKVPYRKITFNPGCVVIDGMPPGVVFKAPGYLEISSMRRILEAAEFIKFTVIRPLPGLELSNVGKRKIDQEGRVFQEKWERAYFFVEVQNIPTCLICKQSMSVSKEYNLRRHYQTNHSKHYDQYMERMRDEKLHELKKGLRKYLLGSSDTECPEQKQVFANPSPTQKSPVQPVEDLAGNLWEKLREKIRSFVAYSIAIDEITDINNTTQLAIFIRGVDENFDVSEELLDTVPMTGTKSGNEIFSRVEKSLKNFCIDWSKLVSVASTGTPAMVDANNGLVTKLKSRVATFCKGAELKSICCIIHPESLCAQKLKMDHVMDVVVKSVNWICSRGLNHSEFTTLLYELDSQYGSLLYYTEIKWLSRGLVLKRFFESLEEIDSFMSSRGKPLPQLSSIDWIRDLAFLVDMTMHLNALNISLQGHSQIVTQMYDLIRAFLAKLCLWETHLTRNNLAHFPTLKLASRNESDGLNYIPKIAELQTEFQKRLSDFKLYESELTLFSSPFSTKIDSVHEELQMEVIDLQCNTVLKTKYDKVGIPEFYKYLWGSYPKYKHHCAKILSMFGSTYICEQLFSIMKLSKTKYCSQLKDSQWDSVLHIAT
uniprot
proteins
disease_involvement
DISEASE: Note=GTF2IRD2 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
107168
uniprot
proteins
protein_family
TFII-I family
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15100712
uniprot
proteins
pubmed
15243160
uniprot
proteins
pubmed
15388857
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16532385
uniprot
proteins
pubmed
17974005
uniprot
proteins
sequence_length
949
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins