Gene Gene information from NCBI Gene database.
Entrez ID 51729
Gene name WW domain binding protein 11
Gene symbol WBP11
Synonyms (NCBI Gene)
BUG13CFAP90FAP90NPWBPPPP1R165SIPP1VCTERLVCTRLWBP-11
Chromosome 12
Chromosome location 12p12.3
Summary This gene encodes a nuclear protein, which colocalizes with mRNA splicing factors and intermediate filament-containing perinuclear networks. This protein has 95% amino acid sequence identity to the mouse Wbp11 protein. It contains two proline-rich regions
miRNA miRNA information provided by mirtarbase database.
170
miRTarBase ID miRNA Experiments Reference
MIRT025244 hsa-miR-34a-5p Proteomics 21566225
MIRT025244 hsa-miR-34a-5p Proteomics 21566225
MIRT027410 hsa-miR-98-5p Microarray 19088304
MIRT031437 hsa-miR-16-5p Proteomics 18668040
MIRT052331 hsa-let-7b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0003697 Function Single-stranded DNA binding TAS 10593949
GO:0003723 Function RNA binding HDA 22681889
GO:0005515 Function Protein binding IPI 16000308, 16189514, 16713569, 21988832, 22321011, 22365833, 24136289, 25416956, 27173435, 27314904, 28514442, 32296183, 33961781
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus TAS 10593949
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618083 16461 ENSG00000084463
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y2W2
Protein name WW domain-binding protein 11 (WBP-11) (Npw38-binding protein) (NpwBP) (SH3 domain-binding protein SNP70) (Splicing factor that interacts with PQBP-1 and PP1)
Protein function Activates pre-mRNA splicing. May inhibit PP1 phosphatase activity.
PDB 7ABF , 7ABG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09429 Wbp11 12 94 WW domain binding protein 11 Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highly expressed in the heart, pancreas, kidney skeletal muscle, placenta and brain (at protein level). Weakly expressed in liver and lung. {ECO:0000269|PubMed:11375989}.
Sequence
MGRRSTSSTKSGKFMNPTDQARKEARKRELKKNKKQRMMVRAAVLKMKDPKQIIRDMEKL
DEMEFNPVQQPQLNEKVLKDKRKKLRETFERILR
LYEKENPDIYKELRKLEVEYEQKRAQ
LSQYFDAVKNAQHVEVESIPLPDMPHAPSNILIQDIPLPGAQPPSILKKTSAYGPPTRAV
SILPLLGHGVPRLPPGRKPPGPPPGPPPPQVVQMYGRKVGFALDLPPRRRDEDMLYSPEL
AQRGHDDDVSSTSEDDGYPEDMDQDKHDDSTDDSDTDKSDGESDGDEFVHRDNGERDNNE
EKKSGLSVRFADMPGKSRKKKKNMKELTPLQAMMLRMAGQEIPEEGREVEEFSEDDDEDD
SDDSEAEKQSQKQHKEESHSDGTSTASSQQQAPPQSVPPSQIQAPPMPGPPPLGPPPAPP
LRPPGPPTGLPPGPPPGAPPFLRPPGMPGLRGPLPRLLPPGPPPGRPPGPPPGPPPGLPP
GPPPRGPPPRLPPPAPPGIPPPRPGMMRPPLVPPLGPAPPGLFPPAPLPNPGVLSAPPNL
IQRPKADDTSAATIEKKATATISAKPQITNPKAEITRFVPTALRVRRENKGATAAPQRKS
EDDSAVPLAKAAPKSGPSVPVSVQTKDDVYEAFMKEMEGLL
Sequence length 641
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spliceosome   mRNA Splicing - Major Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Vertebral, cardiac, tracheoesophageal, renal, and limb defects Likely pathogenic; Pathogenic rs2137238267, rs2498037109, rs2498067242, rs767139774, rs1949866551, rs1949868116, rs1949900423 RCV001754553
RCV003332931
RCV003388640
RCV003339526
RCV001312230
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
WBP11 spliceosomopathy Pathogenic; Likely pathogenic rs767139774, rs1949866551, rs1949868116, rs1949874442, rs1949900423 RCV001199832
RCV001199833
RCV001199834
RCV001199831
RCV001199830
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
WBP11-related disorder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Colorectal Neoplasms Colorectal neoplasm Pubtator 34309201 Associate
★☆☆☆☆
Found in Text Mining only
Congenital Abnormalities Congenital abnormalities Pubtator 40089178 Associate
★☆☆☆☆
Found in Text Mining only
Growth Disorders Growth disorder Pubtator 31874114 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of stomach Stomach Neoplasms BEFREE 30626935
★☆☆☆☆
Found in Text Mining only
Microcephaly Microcephaly Pubtator 31874114 Associate
★☆☆☆☆
Found in Text Mining only
Spondylocostal dysostosis autosomal recessive Spondylocostal dysostosis Pubtator 40089178 Associate
★☆☆☆☆
Found in Text Mining only
Stomach Carcinoma Stomach Carcinoma BEFREE 30626935
★☆☆☆☆
Found in Text Mining only
VACTERL association Vacterl association Pubtator 40089178 Associate
★☆☆☆☆
Found in Text Mining only