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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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O75554 |
| Protein name |
WW domain-binding protein 4 (WBP-4) (Formin-binding protein 21) (WW domain-containing-binding protein 4) |
| Protein function |
Involved in pre-mRNA splicing as a component of the spliceosome (PubMed:19592703, PubMed:28781166, PubMed:9724750). May play a role in cross-intron bridging of U1 and U2 snRNPs in the mammalian A complex (PubMed:9724750). {ECO:0000269|PubMed:195 |
| PDB |
2DK1
, 2JXW
, 5O9Z
, 6AHD
, 7OS1
, 8H6K
, 8H6L
, 8Q7N
, 8QO9
, 8QPE
, 8QZS
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| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00397 |
WW |
165 → 194 |
WW domain |
Domain |
| PF00397 |
WW |
124 → 153 |
WW domain |
Domain |
| PF06220 |
zf-U1 |
8 → 44 |
U1 zinc finger |
Domain |
|
| Sequence |
|
| Sequence length |
376 |
| Interactions |
View interactions |
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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)
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|
|
| Phenotype Name |
Clinical Significance |
Source |
Reference |
Evidence Score |
| NEURODEVELOPMENTAL DISORDERS |
— |
Disgenet
|
— |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
|
| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Developmental Disabilities |
Developmental disability |
Pubtator |
37963460 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Inflammatory Bowel Diseases |
Inflammatory Bowel Disease |
BEFREE |
26511940 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Intellectual Disability |
Intellectual developmental disorder |
Pubtator |
37963460 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
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