WBP4

WW domain-binding protein 4 is a protein that in humans is encoded by the WBP4 gene.^[5][6]

WBP4
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2DK1, 2JXW
Identifiers
Aliases	WBP4, FBP21, WW domain binding protein 4
External IDs	OMIM: 604981; MGI: 109568; HomoloGene: 38287; GeneCards: WBP4; OMA:WBP4 - orthologs
Gene location (Human) Chr. Chromosome 13 (human)[1] Band 13q14.11 Start 41,061,509 bp[1] End 41,084,006 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14|14 D3 Start 79,697,377 bp[2] End 79,718,960 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte secondary oocyte amniotic fluid tendon biceps brachii Achilles tendon Skeletal muscle tissue of biceps brachii muscle of thigh gastrocnemius muscle vastus lateralis muscle Top expressed in spermatocyte Paneth cell endothelial cell of lymphatic vessel genital tubercle primitive streak tail of embryo dentate gyrus of hippocampal formation granule cell epithelium of lens hair follicle substantia nigra More reference expression data BioGPS More reference expression data
Gene ontology Molecular function zinc ion binding proline-rich region binding protein binding metal ion binding nucleic acid binding Cellular component nuclear speck spliceosomal complex nucleoplasm nucleus U2-type precatalytic spliceosome Biological process mRNA cis splicing, via spliceosome mRNA processing RNA splicing mRNA splicing, via spliceosome Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 11193 22380 Ensembl ENSG00000120688 ENSMUSG00000022023 UniProt O75554 Q61048 RefSeq (mRNA) NM_007187 NM_018765 RefSeq (protein) NP_009118 NP_061235 Location (UCSC) Chr 13: 41.06 – 41.08 Mb Chr 14: 79.7 – 79.72 Mb PubMed search [3] [4]
Wikidata
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This gene encodes WW domain-containing binding protein 4. The WW domain represents a small and compact globular structure that interacts with proline-rich ligands. This encoded protein is a general spliceosomal protein that may play a role in cross-intron bridging of U1 and U2 snRNPs in the spliceosomal complex A.^[6]

Bi-allelic variants in WBP4 are responsible of spliceosomopathies leading to developmental disorders. Symptoms include hypotonia, global developmental delay, severe intellectual disability, brain, musculoskeletal, and gastrointestinal abnormalities.^[7] Note that mutations on RNU4-2 [ia] gene induce also spliceosomopathies leading to intellectual disability.^[8]