Format

Send to:

Choose Destination

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

Gene ID: 23558, updated on 13-Mar-2020

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
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

Genomic context

See WBP2 in Genome Data Viewer
Location:
17q25.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (75845699..75856436, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73841780..73851501, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene unk zinc finger Neighboring gene Sharpr-MPRA regulatory region 1193 Neighboring gene unc-13 homolog D Neighboring gene tripartite motif containing 47 Neighboring gene tripartite motif containing 65

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC18269

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II proximal promoter sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
chromatin DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
estrogen receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription coactivator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
WW domain-binding protein 2

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    Q969T9
    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
    Q969T9
    UniProtKB/TrEMBL
    A0A024R8L1
    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
    Q969T9
    UniProtKB/TrEMBL
    A0A024R8L1
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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