TBL2
entrez
26608
canonical
uniprot
Q9Y4P3
canonical
ensembl
ENSG00000106638
resolver
ensp
ENSP00000307260
resolver
ensp
ENSP00000413979
resolver
enst
ENST00000305632
resolver
enst
ENST00000432538
resolver
genesymbol
TBL2
resolver
genesymbol_syn
WBSCR13
resolver
hgnc
HGNC:11586
resolver
uniprot
E9PF19
resolver
uniprot
Q9UQE2
resolver
uniprot_entry
E9PF19_HUMAN
resolver
uniprot_entry
TBL2_HUMAN
resolver
uniprot_sec
Q9UQE2
resolver
amino_acid_sequence
MELSQMSELMGLSVLLGLLALMATAAVARGWLRAGEERSGRPACQKANGFPPDKSSGSKKQKQYQRIRKEKPQQHNFTHRLLAAALKSHSGNISCMDFSSNGKYLATCADDRTIRIWSTKDFLQREHRSMRANVELDHATLVRFSPDCRAFIVWLANGDTLRVFKMTKREDGGYTFTATPEDFPKKHKAPVIDIGIANTGKFIMTASSDTTVLIWSLKGQVLSTINTNQMNNTHAAVSPCGRFVASCGFTPDVKVWEVCFGKKGEFQEVVRAFELKGHSAAVHSFAFSNDSRRMASVSKDGTWKLWDTDVEYKKKQDPYLLKTGRFEEAAGAAPCRLALSPNAQVLALASGSSIHLYNTRRGEKEECFERVHGECIANLSFDITGRFLASCGDRAVRLFHNTPGHRAMVEEMQGHLKRASNESTRQRLQQQLTQAQETLKSLGALKK
uniprot
proteins
disease_involvement
DISEASE: Note=TBL2 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. Haploinsufficiency of TBL2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
uniprot
proteins
mass_dalton
49798
uniprot
proteins
pubmed
10575226
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
9860302
uniprot
proteins
sequence_length
447
uniprot
proteins