WBP11 (WW domain binding protein 11)

2014-11-01  

Identity

HGNC
LOCATION
12p12.3
LOCUSID
ALIAS
BUG13,CFAP90,FAP90,NPWBP,PPP1R165,SIPP1,VCTERL,VCTRL,WBP-11
FUSION GENES

Other Information

Locus ID:

NCBI: 51729
MIM: 618083
HGNC: 16461
Ensembl: ENSG00000084463

Variants:

dbSNP: 51729
ClinVar: 51729
TCGA: ENSG00000084463
COSMIC: WBP11

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000084463ENST00000261167Q9Y2W2
ENSG00000084463ENST00000261167A0A024RAW9
ENSG00000084463ENST00000535328F5GXS9
ENSG00000084463ENST00000535638F5H5G4

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, Prp19/CDC5L complexKEGGhsa_M00353
Spliceosome, Prp19/CDC5L complexKEGGM00353
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
332763772020Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.11
332763772020Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.11
274565462016Changes in the folding landscape of the WW domain provide a molecular mechanism for an inherited genetic syndrome.7
274565462016Changes in the folding landscape of the WW domain provide a molecular mechanism for an inherited genetic syndrome.7
161624982005Nucleocytoplasmic shuttling of the splicing factor SIPP1.18
161624982005Nucleocytoplasmic shuttling of the splicing factor SIPP1.18

Citation

Dessen P

WBP11 (WW domain binding protein 11)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75683/wbp11-(ww-domain-binding-protein-11)