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

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

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.
WBP2 inhibits microRNA biogenesis via interaction with the microprocessor complex.
Title: WBP2 inhibits microRNA biogenesis via interaction with the microprocessor complex.
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.
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.
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.
The emerging roles of WBP2 oncogene in human cancers.
Title: The emerging roles of WBP2 oncogene in human cancers.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

WBP2_9370 (e-PCR)
- UniSTS:468791

G42954 (e-PCR)
- UniSTS:94841

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)

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
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
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