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    WBP2 WW domain binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 23558, updated on 2-Nov-2024

    Summary

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    Official Symbol
    WBP2provided by HGNC
    Official Full Name
    WW domain binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:12738
    See related
    Ensembl:ENSG00000132471 MIM:606962; AllianceGenome:HGNC:12738
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WBP-2; GRAMD6; DFNB107
    Summary
    The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein that is a transcriptional coactivator of estrogen receptor alpha and progesterone receptor. Defects in this gene have been associated with hearing impairment. [provided by RefSeq, Jan 2017]
    Expression
    Ubiquitous expression in brain (RPKM 118.9), adrenal (RPKM 61.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See WBP2 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75845699..75856436, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76738850..76749587, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73841780..73852517, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73780981-73781559 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73781560-73782137 Neighboring gene unk zinc finger Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73810697-73811198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73811199-73811698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73812483-73812984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73812985-73813484 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73825830-73826818 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73826819-73827806 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73831316-73831816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73832318-73833318 Neighboring gene unc-13 homolog D Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73834667-73835166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73840002-73840706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8989 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:73852240-73853035 Neighboring gene Sharpr-MPRA regulatory region 12387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73861034-73861534 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73864718-73865644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73872205-73873120 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73873121-73874036 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73874037-73874952 Neighboring gene tripartite motif containing 47 Neighboring gene tripartite motif containing 65 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73892749-73893458

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. WBP2 promotes BTRC mRNA stability to drive migration and invasion in triple-negative breast cancer via NF-kappaB activation.
      Title: WBP2 promotes BTRC mRNA stability to drive migration and invasion in triple-negative breast cancer via NF-κB activation.
    2. WBP2 inhibits microRNA biogenesis via interaction with the microprocessor complex.
      Title: WBP2 inhibits microRNA biogenesis via interaction with the microprocessor complex.
    3. WBP2 negatively regulates the Hippo pathway by competitively binding to WWC3 with LATS1 to promote non-small cell lung cancer progression.
      Title: WBP2 negatively regulates the Hippo pathway by competitively binding to WWC3 with LATS1 to promote non-small cell lung cancer progression.
    4. WW domain-binding protein 2 overexpression prevents diet-induced liver steatosis and insulin resistance through AMPKbeta1.
      Title: WW domain-binding protein 2 overexpression prevents diet-induced liver steatosis and insulin resistance through AMPKβ1.
    5. WBP2 promotes gastric cancer cell migration via novel targeting of LATS2 kinase in the Hippo tumor suppressor pathway.
      Title: WBP2 promotes gastric cancer cell migration via novel targeting of LATS2 kinase in the Hippo tumor suppressor pathway.
    6. The emerging roles of WBP2 oncogene in human cancers.
      Title: The emerging roles of WBP2 oncogene in human cancers.
    7. WBP2 expression correlates with the response of HER2-positive breast cancer to trastuzumab-based neoadjuvant chemotherapy.
      Title: Elevated WBP2 Expression in HER2-positive Breast Cancers Correlates with Sensitivity to Trastuzumab-based Neoadjuvant Therapy: A Retrospective and Multicentric Study.
    8. Overexpression of WBP2 in glioma cells promoted cell proliferation and migration, and the number of S-phase cells.
      Title: WW domain-binding protein 2 acts as an oncogene by modulating the activity of the glycolytic enzyme ENO1 in glioma.
    9. WBP2 directly promoted P-glycoprotein expression through binding to ERalpha to increase the doxorubicin resistance of ERalpha-positive MCF-7 cells.
      Title: Interaction of WBP2 with ERα increases doxorubicin resistance of breast cancer cells by modulating MDR1 transcription.
    10. WBP2 promoted triple-negative breast cancer (TNBC) growth by integrating JNK with Wnt signaling, and its expression profoundly influenced the sensitivity of TNBC to JNK/TNIK inhibitors.
      Title: The transcriptional coactivator WBP2 primes triple-negative breast cancer cells for responses to Wnt signaling via the JNK/Jun kinase pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hearing loss, autosomal recessive 107
    MedGen: C4539964 OMIM: 617639 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC18269

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables chromatin DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chromatin DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables nuclear estrogen receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription coactivator activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to estrogen stimulus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in establishment of protein localization to chromatin IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of intracellular estrogen receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in progesterone receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to estrogen IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to progesterone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transcription initiation-coupled chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    WW domain-binding protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001330499.2 → NP_001317428.1  WW domain-binding protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK294082, BC010616
      Consensus CDS
      CCDS82206.1
      UniProtKB/TrEMBL
      Q7Z511
      Related
      ENSP00000415251.2, ENST00000433525.6
      Conserved Domains (1) summary
      cd13214
      Location:30 → 131
      PH-GRAM_WBP2; WW binding protein 2 (WB2) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

    2. NM_001348170.1 → NP_001335099.1  WW domain-binding protein 2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 both encode the same isoform (1).
      Source sequence(s)
      AC087289
      Consensus CDS
      CCDS11731.1
      UniProtKB/Swiss-Prot
      B4DFG2, O95638, Q969T9
      UniProtKB/TrEMBL
      Q7Z511
      Related
      ENSP00000467579.1, ENST00000591399.5
      Conserved Domains (1) summary
      cd13214
      Location:30 → 131
      PH-GRAM_WBP2; WW binding protein 2 (WB2) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

    3. NM_012478.4 → NP_036610.2  WW domain-binding protein 2 isoform 1

      See identical proteins and their annotated locations for NP_036610.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1 and 3 both encode the same isoform (1).
      Source sequence(s)
      BC010616, DA278794
      Consensus CDS
      CCDS11731.1
      UniProtKB/Swiss-Prot
      B4DFG2, O95638, Q969T9
      UniProtKB/TrEMBL
      Q7Z511
      Related
      ENSP00000254806.3, ENST00000254806.8
      Conserved Domains (1) summary
      cd13214
      Location:30 → 131
      PH-GRAM_WBP2; WW binding protein 2 (WB2) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      75845699..75856436 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435712.1 → XP_047291668.1  WW domain-binding protein 2 isoform X1

      UniProtKB/TrEMBL
      A6NG10, B4DDJ2
      Related
      ENSP00000467583.1, ENST00000585462.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      76738850..76749587 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315634.1 → XP_054171609.1  WW domain-binding protein 2 isoform X1

      UniProtKB/TrEMBL
      A6NG10, B4DDJ2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969T9.1 GenPept UniProtKB/Swiss-Prot:Q969T9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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