U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

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

    Gene ID: 23558, updated on 10-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    Preferred Names
    WW domain-binding protein 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001330499.2NP_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:30131
      PH-GRAM_WBP2; WW binding protein 2 (WB2) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    2. NM_001348170.1NP_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:30131
      PH-GRAM_WBP2; WW binding protein 2 (WB2) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    3. NM_012478.4NP_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:30131
      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_047435712.1XP_047291668.1  WW domain-binding protein 2 isoform X1

      UniProtKB/TrEMBL
      A6NG10, B4DDJ2, Q7Z511
      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_054315634.1XP_054171609.1  WW domain-binding protein 2 isoform X1

      UniProtKB/TrEMBL
      A6NG10, B4DDJ2, Q7Z511