WBP11 (WW domain binding protein 11)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 51729
• Gene name: WW domain binding protein 11
• Gene symbol: WBP11
• Synonyms (NCBI Gene): BUG13, CFAP90, FAP90, NPWBP, PPP1R165, SIPP1, VCTERL, VCTRL, WBP-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 Show/Hide all (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
MIRT051869	hsa-let-7c-5p	CLASH	23622248
MIRT037321	hsa-miR-877-5p	CLASH	23622248
MIRT571577	hsa-miR-496	PAR-CLIP	20371350
MIRT571576	hsa-miR-4496	PAR-CLIP	20371350
MIRT571575	hsa-miR-4722-3p	PAR-CLIP	20371350
MIRT571574	hsa-miR-6727-3p	PAR-CLIP	20371350
MIRT571573	hsa-miR-6747-3p	PAR-CLIP	20371350
MIRT571572	hsa-miR-643	PAR-CLIP	20371350
MIRT571571	hsa-miR-4312	PAR-CLIP	20371350
MIRT571569	hsa-miR-5093	PAR-CLIP	20371350
MIRT571570	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT574383	hsa-miR-1260a	PAR-CLIP	20371350
MIRT574382	hsa-miR-1260b	PAR-CLIP	20371350
MIRT574381	hsa-miR-3156-3p	PAR-CLIP	20371350
MIRT571577	hsa-miR-496	PAR-CLIP	20371350
MIRT571576	hsa-miR-4496	PAR-CLIP	20371350
MIRT571575	hsa-miR-4722-3p	PAR-CLIP	20371350
MIRT571574	hsa-miR-6727-3p	PAR-CLIP	20371350
MIRT571573	hsa-miR-6747-3p	PAR-CLIP	20371350
MIRT571572	hsa-miR-643	PAR-CLIP	20371350
MIRT571571	hsa-miR-4312	PAR-CLIP	20371350
MIRT571569	hsa-miR-5093	PAR-CLIP	20371350
MIRT571570	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT571577	hsa-miR-496	PAR-CLIP	20371350
MIRT571576	hsa-miR-4496	PAR-CLIP	20371350
MIRT571575	hsa-miR-4722-3p	PAR-CLIP	20371350
MIRT571574	hsa-miR-6727-3p	PAR-CLIP	20371350
MIRT571573	hsa-miR-6747-3p	PAR-CLIP	20371350
MIRT571572	hsa-miR-643	PAR-CLIP	20371350
MIRT571571	hsa-miR-4312	PAR-CLIP	20371350
MIRT571569	hsa-miR-5093	PAR-CLIP	20371350
MIRT571570	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT574383	hsa-miR-1260a	PAR-CLIP	20371350
MIRT574382	hsa-miR-1260b	PAR-CLIP	20371350
MIRT574381	hsa-miR-3156-3p	PAR-CLIP	20371350
MIRT571577	hsa-miR-496	PAR-CLIP	20371350
MIRT571576	hsa-miR-4496	PAR-CLIP	20371350
MIRT571575	hsa-miR-4722-3p	PAR-CLIP	20371350
MIRT571574	hsa-miR-6727-3p	PAR-CLIP	20371350
MIRT571573	hsa-miR-6747-3p	PAR-CLIP	20371350
MIRT571572	hsa-miR-643	PAR-CLIP	20371350
MIRT571571	hsa-miR-4312	PAR-CLIP	20371350
MIRT571569	hsa-miR-5093	PAR-CLIP	20371350
MIRT571570	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT1489071	hsa-miR-10a	CLIP-seq
MIRT1489072	hsa-miR-10b	CLIP-seq
MIRT1489073	hsa-miR-1255a	CLIP-seq
MIRT1489074	hsa-miR-1255b	CLIP-seq
MIRT1489075	hsa-miR-1260	CLIP-seq
MIRT1489076	hsa-miR-1299	CLIP-seq
MIRT1489077	hsa-miR-31	CLIP-seq
MIRT1489078	hsa-miR-3153	CLIP-seq
MIRT1489079	hsa-miR-3545-3p	CLIP-seq
MIRT1489080	hsa-miR-3671	CLIP-seq
MIRT1489081	hsa-miR-3944-5p	CLIP-seq
MIRT1489082	hsa-miR-452	CLIP-seq
MIRT1489083	hsa-miR-4539	CLIP-seq
MIRT1489084	hsa-miR-455-5p	CLIP-seq
MIRT1489085	hsa-miR-4660	CLIP-seq
MIRT1489086	hsa-miR-4668-5p	CLIP-seq
MIRT1489087	hsa-miR-4676-3p	CLIP-seq
MIRT1489088	hsa-miR-4697-3p	CLIP-seq
MIRT1489089	hsa-miR-4732-3p	CLIP-seq
MIRT1489090	hsa-miR-4766-5p	CLIP-seq
MIRT1489091	hsa-miR-4775	CLIP-seq
MIRT1489092	hsa-miR-4778-5p	CLIP-seq
MIRT1489093	hsa-miR-4782-5p	CLIP-seq
MIRT1489094	hsa-miR-502-5p	CLIP-seq
MIRT1489095	hsa-miR-516b	CLIP-seq
MIRT1489096	hsa-miR-548an	CLIP-seq
MIRT1489097	hsa-miR-548g	CLIP-seq
MIRT1489098	hsa-miR-561	CLIP-seq
MIRT1489099	hsa-miR-590-3p	CLIP-seq
MIRT1489100	hsa-miR-646	CLIP-seq
MIRT1489101	hsa-miR-671-5p	CLIP-seq
MIRT2147354	hsa-miR-15a	CLIP-seq
MIRT2147355	hsa-miR-15b	CLIP-seq
MIRT2147356	hsa-miR-16	CLIP-seq
MIRT2147357	hsa-miR-195	CLIP-seq
MIRT2147358	hsa-miR-3128	CLIP-seq
MIRT2147359	hsa-miR-323-5p	CLIP-seq
MIRT2147360	hsa-miR-3647-3p	CLIP-seq
MIRT2147361	hsa-miR-3925-3p	CLIP-seq
MIRT1489081	hsa-miR-3944-5p	CLIP-seq
MIRT2147362	hsa-miR-3977	CLIP-seq
MIRT2147363	hsa-miR-424	CLIP-seq
MIRT2147364	hsa-miR-4271	CLIP-seq
MIRT1489082	hsa-miR-452	CLIP-seq
MIRT2147365	hsa-miR-4524	CLIP-seq
MIRT1489084	hsa-miR-455-5p	CLIP-seq
MIRT2147366	hsa-miR-4642	CLIP-seq
MIRT1489087	hsa-miR-4676-3p	CLIP-seq
MIRT2147367	hsa-miR-4720-5p	CLIP-seq
MIRT2147368	hsa-miR-4725-3p	CLIP-seq
MIRT2147369	hsa-miR-4764-5p	CLIP-seq
MIRT2147370	hsa-miR-4779	CLIP-seq
MIRT2147371	hsa-miR-4799-3p	CLIP-seq
MIRT2147372	hsa-miR-488	CLIP-seq
MIRT2147373	hsa-miR-497	CLIP-seq
MIRT2147374	hsa-miR-503	CLIP-seq
MIRT2147375	hsa-miR-515-5p	CLIP-seq
MIRT2147376	hsa-miR-522	CLIP-seq
MIRT1489099	hsa-miR-590-3p	CLIP-seq
MIRT1489100	hsa-miR-646	CLIP-seq
MIRT2147377	hsa-miR-765	CLIP-seq
MIRT2147378	hsa-miR-766	CLIP-seq
MIRT2147379	hsa-miR-876-3p	CLIP-seq
MIRT1489075	hsa-miR-1260	CLIP-seq
MIRT2147354	hsa-miR-15a	CLIP-seq
MIRT2147355	hsa-miR-15b	CLIP-seq
MIRT2147356	hsa-miR-16	CLIP-seq
MIRT2147357	hsa-miR-195	CLIP-seq
MIRT2367769	hsa-miR-3133	CLIP-seq
MIRT2367770	hsa-miR-3611	CLIP-seq
MIRT1489081	hsa-miR-3944-5p	CLIP-seq
MIRT2147362	hsa-miR-3977	CLIP-seq
MIRT2147363	hsa-miR-424	CLIP-seq
MIRT2147364	hsa-miR-4271	CLIP-seq
MIRT2367771	hsa-miR-4511	CLIP-seq
MIRT2147365	hsa-miR-4524	CLIP-seq
MIRT1489084	hsa-miR-455-5p	CLIP-seq
MIRT2147368	hsa-miR-4725-3p	CLIP-seq
MIRT2147369	hsa-miR-4764-5p	CLIP-seq
MIRT1489092	hsa-miR-4778-5p	CLIP-seq
MIRT2147370	hsa-miR-4779	CLIP-seq
MIRT2147373	hsa-miR-497	CLIP-seq
MIRT2147374	hsa-miR-503	CLIP-seq
MIRT1489100	hsa-miR-646	CLIP-seq
MIRT2147377	hsa-miR-765	CLIP-seq
MIRT1489085	hsa-miR-4660	CLIP-seq
MIRT1489100	hsa-miR-646	CLIP-seq
MIRT1489101	hsa-miR-671-5p	CLIP-seq
MIRT2661309	hsa-miR-1208	CLIP-seq
MIRT2661310	hsa-miR-136	CLIP-seq
MIRT2147358	hsa-miR-3128	CLIP-seq
MIRT2661311	hsa-miR-320a	CLIP-seq
MIRT2661312	hsa-miR-320b	CLIP-seq
MIRT2661313	hsa-miR-320c	CLIP-seq
MIRT2661314	hsa-miR-320d	CLIP-seq
MIRT2367770	hsa-miR-3611	CLIP-seq
MIRT2661315	hsa-miR-4252	CLIP-seq
MIRT2661316	hsa-miR-4429	CLIP-seq
MIRT2661317	hsa-miR-4640-5p	CLIP-seq
MIRT2147366	hsa-miR-4642	CLIP-seq
MIRT1489085	hsa-miR-4660	CLIP-seq
MIRT2147367	hsa-miR-4720-5p	CLIP-seq
MIRT2661318	hsa-miR-4726-5p	CLIP-seq
MIRT2147371	hsa-miR-4799-3p	CLIP-seq
MIRT2147375	hsa-miR-515-5p	CLIP-seq
MIRT1489100	hsa-miR-646	CLIP-seq
MIRT1489101	hsa-miR-671-5p	CLIP-seq
MIRT2661309	hsa-miR-1208	CLIP-seq
MIRT2661310	hsa-miR-136	CLIP-seq
MIRT2147358	hsa-miR-3128	CLIP-seq
MIRT2367770	hsa-miR-3611	CLIP-seq
MIRT2661315	hsa-miR-4252	CLIP-seq
MIRT2661317	hsa-miR-4640-5p	CLIP-seq
MIRT2147366	hsa-miR-4642	CLIP-seq
MIRT1489085	hsa-miR-4660	CLIP-seq
MIRT2147367	hsa-miR-4720-5p	CLIP-seq
MIRT2661318	hsa-miR-4726-5p	CLIP-seq
MIRT2147371	hsa-miR-4799-3p	CLIP-seq
MIRT2147375	hsa-miR-515-5p	CLIP-seq
MIRT1489100	hsa-miR-646	CLIP-seq
MIRT1489101	hsa-miR-671-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (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
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006364	Process	RRNA processing	IEA
GO:0006396	Process	RNA processing	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0050699	Function	WW domain binding	IPI	19592703

Other IDs

• MIM: 618083
• HGNC: 16461
• e!Ensembl: ENSG00000084463

Protein

• UniProt ID: 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
  DEMEFNPVQQPQLNEKVLKDKRKKLRETFERILRLYEKENPDIYKELRKLEVEYEQKRAQ
  LSQYFDAVKNAQHVEVESIPLPDMPHAPSNILIQDIPLPGAQPPSILKKTSAYGPPTRAV
  SILPLLGHGVPRLPPGRKPPGPPPGPPPPQVVQMYGRKVGFALDLPPRRRDEDMLYSPEL
  AQRGHDDDVSSTSEDDGYPEDMDQDKHDDSTDDSDTDKSDGESDGDEFVHRDNGERDNNE
  EKKSGLSVRFADMPGKSRKKKKNMKELTPLQAMMLRMAGQEIPEEGREVEEFSEDDDEDD
  SDDSEAEKQSQKQHKEESHSDGTSTASSQQQAPPQSVPPSQIQAPPMPGPPPLGPPPAPP
  LRPPGPPTGLPPGPPPGAPPFLRPPGMPGLRGPLPRLLPPGPPPGRPPGPPPGPPPGLPP
  GPPPRGPPPRLPPPAPPGIPPPRPGMMRPPLVPPLGPAPPGLFPPAPLPNPGVLSAPPNL
  IQRPKADDTSAATIEKKATATISAKPQITNPKAEITRFVPTALRVRRENKGATAAPQRKS
  EDDSAVPLAKAAPKSGPSVPVSVQTKDDVYEAFMKEMEGLL

• Sequence length: 641

Pathways

KEGG Pathway:

Spliceosome

Reactome Pathway:

mRNA Splicing - Major Pathway

Associated diseases

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
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 RCV001312231 RCV001312232	★★★★★ 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
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
WBP11-related disorder	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (8)
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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PQBP1 2 shared pathwaysSpliceosome, mRNA Splicing - Major Pathway Related via 2 shared pathways including Spliceosome, mRNA Splicing - Major Pathway. SMNDC1 2 shared pathwaysSpliceosome, mRNA Splicing - Major Pathway Related via 2 shared pathways including Spliceosome, mRNA Splicing - Major Pathway. BCAS2 2 shared pathwaysSpliceosome, mRNA Splicing - Major Pathway Related via 2 shared pathways including Spliceosome, mRNA Splicing - Major Pathway. SF3A1 2 shared pathwaysSpliceosome, mRNA Splicing - Major Pathway Related via 2 shared pathways including Spliceosome, mRNA Splicing - Major Pathway. PPIH 2 shared pathwaysSpliceosome, mRNA Splicing - Major Pathway Related via 2 shared pathways including Spliceosome, mRNA Splicing - Major Pathway.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PQBP1	0	[]	2	["Spliceosome","mRNA Splicing - Major Pathway"]	0	[]
SMNDC1	0	[]	2	["Spliceosome","mRNA Splicing - Major Pathway"]	0	[]
BCAS2	0	[]	2	["Spliceosome","mRNA Splicing - Major Pathway"]	0	[]
SF3A1	0	[]	2	["Spliceosome","mRNA Splicing - Major Pathway"]	0	[]
PPIH	0	[]	2	["Spliceosome","mRNA Splicing - Major Pathway"]	0	[]

Diseases Linked via Similar Genes

Autism Linked via 2 of 5 related genesPQBP1, BCAS2 Atrial septal defect Linked via 1 of 5 related genesPQBP1 Growth disorder Linked via 1 of 5 related genesPQBP1 Congenital heart septal defect Linked via 1 of 5 related genesPQBP1 Intellectual developmental disorder Linked via 1 of 5 related genesPQBP1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Autism	2	["PQBP1","BCAS2"]
Atrial septal defect	1	["PQBP1"]
Growth disorder	1	["PQBP1"]
Congenital heart septal defect	1	["PQBP1"]
Intellectual developmental disorder	1	["PQBP1"]