WBP2

Summary

WBP2 (WW domain binding protein 2, HGNC:12738) is a protein-coding gene on chromosome 17q25.1, encoding WW domain-binding protein 2 (Q969T9). Acts as a transcriptional coactivator of estrogen and progesterone receptors (ESR1 and PGR) upon hormone activation.

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.

Source: NCBI Gene 23558 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hearing loss, autosomal recessive 107 (Moderate, GenCC) — +1 more curated relationship
• GWAS associations: 4
• Clinical variants (ClinVar): 157 total — 1 likely-pathogenic
• Druggable target: yes
• MANE Select transcript: NM_012478

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12738
Approved symbol	WBP2
Name	WW domain binding protein 2
Location	17q25.1
Locus type	gene with protein product
Status	Approved
Aliases	WBP-2, GRAMD6
Ensembl gene	ENSG00000132471
Ensembl biotype	protein_coding
OMIM	606962
Entrez	23558

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 10 protein_coding, 6 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000254806, ENST00000416574, ENST00000433525, ENST00000585462, ENST00000586257, ENST00000587374, ENST00000587642, ENST00000588373, ENST00000589236, ENST00000589241, ENST00000589642, ENST00000589834, ENST00000590221, ENST00000590450, ENST00000591399, ENST00000591831, ENST00000592802, ENST00000593002, ENST00000626827

RefSeq mRNA: 3 — MANE Select: NM_012478 NM_001330499, NM_001348170, NM_012478

CCDS: CCDS11731, CCDS82206

Canonical transcript exons

ENST00000254806 — 8 exons

Exon	Start	End
ENSE00001117859	75845699	75846787
ENSE00003509833	75855239	75855335
ENSE00003521376	75847796	75847930
ENSE00003524016	75846908	75846984
ENSE00003638104	75849604	75849739
ENSE00003675316	75848570	75848662
ENSE00003680197	75851568	75851676
ENSE00003785704	75847487	75847609

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 99.43.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 145.4194 / max 1255.1986, expressed in 1824 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
168126	133.0310	1824
168122	2.8915	1295
168121	2.5685	1223
168116	2.3291	1193
168117	1.8877	1035
168114	1.0428	634
168123	0.7773	457
168115	0.6873	406
168120	0.1659	37
168118	0.0228	9

Top tissues by expression

300 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right frontal lobe	UBERON:0002810	99.43	gold quality
right hemisphere of cerebellum	UBERON:0014890	99.36	gold quality
cerebellar hemisphere	UBERON:0002245	99.27	gold quality
cerebellar cortex	UBERON:0002129	99.22	gold quality
prefrontal cortex	UBERON:0000451	99.17	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	99.14	gold quality
right adrenal gland	UBERON:0001233	99.09	gold quality
right adrenal gland cortex	UBERON:0035827	99.08	gold quality
left adrenal gland	UBERON:0001234	99.05	gold quality
left adrenal gland cortex	UBERON:0035825	99.03	gold quality
cingulate cortex	UBERON:0003027	98.92	gold quality
anterior cingulate cortex	UBERON:0009835	98.89	gold quality
right uterine tube	UBERON:0001302	98.76	gold quality
spinal cord	UBERON:0002240	98.68	gold quality
amygdala	UBERON:0001876	98.67	gold quality
nucleus accumbens	UBERON:0001882	98.58	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.58	gold quality
mucosa of stomach	UBERON:0001199	98.56	gold quality
adrenal cortex	UBERON:0001235	98.54	gold quality
hypothalamus	UBERON:0001898	98.52	gold quality
adenohypophysis	UBERON:0002196	98.50	gold quality
skin of leg	UBERON:0001511	98.42	gold quality
body of stomach	UBERON:0001161	98.39	gold quality
right lung	UBERON:0002167	98.39	gold quality
cerebellum	UBERON:0002037	98.37	gold quality
minor salivary gland	UBERON:0001830	98.34	gold quality
skin of abdomen	UBERON:0001416	98.32	gold quality
tibial nerve	UBERON:0001323	98.31	gold quality
adrenal gland	UBERON:0002369	98.31	gold quality
left ovary	UBERON:0002119	98.30	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-122	yes	20.41
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESR1

miRNA regulators (miRDB)

63 targeting WBP2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-149-3P	99.72	68.22	3963

Literature-anchored findings (GeneRIF, showing 18)

• WW domain binding protein-2, an E6-associated protein interacting protein, acts together with YAP as coactivators of estrogen and progesterone receptors. (PMID:16772533)
• Data show that direct interaction of Wbp2 with TAZ depends on the WW domain of TAZ. (PMID:20972459)
• The WW1 and WW2 domains of YAP2 recognize various PPXY motifs within WBP2 and WBP1 in a highly promiscuous and subtle manner. (PMID:21981024)
• data indicate that WBP-2 enhances ER transactivation function at certain genes by facilitating the recruitment and/or the stabilization of a histone modifier enzyme that favors a relaxed chromatin structure, permissive of transcription (PMID:23233354)
• The authors reported that the loss of Wbp2 expression leads to progressive high-frequency hearing loss in mouse, as well as in two deaf children, each carrying two different variants in the WBP2 gene. (PMID:26881968)
• WBP2/ITCH signaling functions to link the intricate Wnt and Hippo signaling networks in breast cancer. (PMID:27578003)
• Data indicate WW-binding protein 2 (WBP2) as an important co-factor of YY1 associated protein 1 (YAP) that enhances YAP/TEAD-mediated gene transcription. (PMID:28332498)
• the miR-206/WBP2 axis can modulate tamoxifen sensitivity via regulating G1/S progression in estrogen receptor + breast cancer (PMID:28391353)
• Overexpression of WBP2 in glioma cells promoted cell proliferation and migration, and the number of S-phase cells. (PMID:29497031)
• WBP2 directly promoted P-glycoprotein expression through binding to ERalpha to increase the doxorubicin resistance of ERalpha-positive MCF-7 cells. (PMID:29937544)
• 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. (PMID:30442712)
• WBP2 expression correlates with the response of HER2-positive breast cancer to trastuzumab-based neoadjuvant chemotherapy. (PMID:30593516)
• The emerging roles of WBP2 oncogene in human cancers. (PMID:32393834)
• WBP2 promotes gastric cancer cell migration via novel targeting of LATS2 kinase in the Hippo tumor suppressor pathway. (PMID:33475198)
• WW domain-binding protein 2 overexpression prevents diet-induced liver steatosis and insulin resistance through AMPKbeta1. (PMID:33658485)
• WBP2 negatively regulates the Hippo pathway by competitively binding to WWC3 with LATS1 to promote non-small cell lung cancer progression. (PMID:33837178)
• WBP2 inhibits microRNA biogenesis via interaction with the microprocessor complex. (PMID:34117091)
• WBP2 promotes BTRC mRNA stability to drive migration and invasion in triple-negative breast cancer via NF-kappaB activation. (PMID:34197030)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	wbp2	ENSDARG00000056605
mus_musculus	Wbp2	ENSMUSG00000034341
rattus_norvegicus	Wbp2	ENSRNOG00000007971
drosophila_melanogaster	Wbp2	FBGN0036318
caenorhabditis_elegans		WBGENE00008404
caenorhabditis_elegans		WBGENE00015955

Paralogs (1): WBP2NL (ENSG00000183066)

Protein

Protein identifiers

WW domain-binding protein 2 — Q969T9 (reviewed: Q969T9)

All UniProt accessions (9): Q969T9, A6NG10, K7EIJ0, K7EIK1, K7EIN1, K7EJ75, K7EMC9, K7ENL2, K7ESN4

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a transcriptional coactivator of estrogen and progesterone receptors (ESR1 and PGR) upon hormone activation. In presence of estrogen, binds to ESR1-responsive promoters. Synergizes with YAP1 to enhance PGR activity. Modulates expression of post-synaptic scaffolding proteins via regulation of ESR1, ESR2 and PGR.

Subunit / interactions. Binds to the WW domain of YAP1, WWP1 and WWP2. Interacts with NEDD4. Interacts with ESR1 and UBE3A.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Ubiquitous.

Post-translational modifications. Phosphorylated in repsonse to EGF as well as estrogen and progesterone hormones. Tyr-192 and Tyr-231 are phosphorylated by YES and SRC inducing nuclear translocation.

Disease relevance. Deafness, autosomal recessive, 107 (DFNB107) [MIM:617639] A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The PPxY motif 1 mediates interaction with NEDD4. The PPxY motif 2 is required for the coactivation function.

Isoforms (2)

UniProt ID	Names	Canonical?
Q969T9-1	1	yes
Q969T9-2	2

RefSeq proteins (3): NP_001317428, NP_001335099, NP_036610* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004182	GRAM	Domain
IPR044852	WBP2-like	Family

Pfam: PF02893

UniProt features (32 total): mutagenesis site 18, sequence variant 3, compositionally biased region 3, short sequence motif 2, modified residue 2, chain 1, domain 1, splice variant 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q969T9-F1	72.55	0.42

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 192, 231

Mutagenesis-validated functional residues (18):

Position	Phenotype
25	no effect on phosphorylation induced by egf.
51	no effect on phosphorylation induced by egf.
55	no effect on phosphorylation induced by egf.
75	no effect on phosphorylation induced by egf.
143	no effect on phosphorylation induced by egf.
145	no effect on phosphorylation induced by egf.
153	no effect on phosphorylation induced by egf.
164	no effect on phosphorylation induced by egf.
170	no effect on phosphorylation induced by egf.
172	no effect on phosphorylation induced by egf.
180	no effect on phosphorylation induced by egf.
192	strongly decreases phosphorylation induced by egf. abolishes phosphorylation in response to egf, estrogen and progestero
200	no effect on phosphorylation induced by egf.
231	strongly decreases phosphorylation induced by egf. abolishes phosphorylation in response to egf, estrogen and progestero
232	no effect on phosphorylation induced by egf.
248–252	loss of coactivator activity in presence of estrogen.
252	no effect on phosphorylation induced by egf.
253	no effect on phosphorylation induced by egf.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 218 (showing top): GCM_MAP4K4, MORF_RAB5A, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_CHROMOSOME, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_STEROID_HORMONE_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_INTRACELLULAR_STEROID_HORMONE_RECEPTOR_SIGNALING_PATHWAY, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, USF_C, MORF_SKP1A, GOBP_HORMONE_MEDIATED_SIGNALING_PATHWAY, GOBP_REGULATION_OF_INTRACELLULAR_ESTROGEN_RECEPTOR_SIGNALING_PATHWAY, MYOD_01, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, GOBP_RESPONSE_TO_KETONE

GO Biological Process (9): response to progesterone (GO:0032570), positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148), response to estrogen (GO:0043627), transcription initiation-coupled chromatin remodeling (GO:0045815), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), progesterone receptor signaling pathway (GO:0050847), establishment of protein localization to chromatin (GO:0071169), cellular response to estrogen stimulus (GO:0071391)

GO Molecular Function (5): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), transcription coactivator activity (GO:0003713), nuclear estrogen receptor binding (GO:0030331), chromatin DNA binding (GO:0031490), protein binding (GO:0005515)

GO Cellular Component (5): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
positive regulation of DNA-templated transcription	2
response to steroid hormone	1
response to ketone	1
estrogen receptor signaling pathway	1
positive regulation of intracellular steroid hormone receptor signaling pathway	1
regulation of intracellular estrogen receptor signaling pathway	1
response to hormone	1
transcription initiation at RNA polymerase II promoter	1
positive regulation of gene expression, epigenetic	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
nuclear receptor-mediated steroid hormone signaling pathway	1
establishment of protein localization to chromosome	1
cellular response to hormone stimulus	1
response to estrogen	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
cis-regulatory region sequence-specific DNA binding	1
transcription coregulator activity	1
nuclear receptor binding	1
DNA binding	1
chromatin binding	1
binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

1026 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
WBP2	WBP1	Q96G27	952
WBP2	YAP1	P46937	839
WBP2	PAX8	Q06710	704
WBP2	WWOX	Q9NZC7	696
WBP2	NEDD4L	Q96PU5	639
WBP2	AMOT	Q4VCS5	594
WBP2	WWTR1	Q9GZV5	589
WBP2	TRIM47	Q96LD4	581
WBP2	MRPL38	Q96DV4	581
WBP2	TEAD1	P28347	581
WBP2	PLCZ1	Q86YW0	574
WBP2	WWP2	O00308	549
WBP2	TRIM65	Q6PJ69	528
WBP2	TP53BP2	Q13625	521
WBP2	PTPN14	Q15678	517

IntAct

76 interactions, top by confidence:

A	B	Type	Score
YAP1	MPDZ	psi-mi:“MI:0914”(association)	0.780
YAP1	WBP2	psi-mi:“MI:0407”(direct interaction)	0.760
WBP2	YAP1	psi-mi:“MI:0407”(direct interaction)	0.760
VASP	CEP43	psi-mi:“MI:0914”(association)	0.740
BAG3	WBP2	psi-mi:“MI:0915”(physical association)	0.670
WBP2	WWTR1	psi-mi:“MI:0915”(physical association)	0.610
WBP2	WWTR1	psi-mi:“MI:0407”(direct interaction)	0.610
WBP2	WWTR1	psi-mi:“MI:0403”(colocalization)	0.610
MAGEA4	WBP2	psi-mi:“MI:0915”(physical association)	0.560
WBP2	MAGEA4	psi-mi:“MI:0915”(physical association)	0.560
HOMER3	WBP2	psi-mi:“MI:0915”(physical association)	0.560
EPN2	WBP2	psi-mi:“MI:0915”(physical association)	0.560
UBE2E3	WBP2	psi-mi:“MI:0915”(physical association)	0.560
LGALS8	WBP2	psi-mi:“MI:0915”(physical association)	0.560
WBP2	HOMER3	psi-mi:“MI:0915”(physical association)	0.560
WBP2	CCT7	psi-mi:“MI:0915”(physical association)	0.560
WBP2	SMAD5	psi-mi:“MI:0915”(physical association)	0.560
YAP1	CCDC85C	psi-mi:“MI:0914”(association)	0.530
CCDC127	CETN3	psi-mi:“MI:0914”(association)	0.530
ILVBL	SLC33A1	psi-mi:“MI:0914”(association)	0.530
WBP2	RAB34	psi-mi:“MI:0915”(physical association)	0.400
WBP2	DYNC1LI1	psi-mi:“MI:0915”(physical association)	0.400
WWOX	WBP2	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (144): WBP2 (Two-hybrid), WBP2 (Biochemical Activity), WBP2 (Affinity Capture-MS), WBP2 (Reconstituted Complex), MAGEA4 (Two-hybrid), WBP2 (Affinity Capture-MS), WBP2 (Affinity Capture-MS), WBP2 (Affinity Capture-MS), WBP2 (Affinity Capture-MS), WBP2 (Biochemical Activity), WBP2 (Reconstituted Complex), WBP2 (Affinity Capture-MS), WBP2 (Biochemical Activity), WBP2 (Affinity Capture-MS), CTNNB1 (Affinity Capture-Western)

ESM2 similar proteins: A0A8M1NHK4, A3KFF6, A6H8J1, O49429, O80678, O80910, P12348, P55265, P94017, P97765, Q08B53, Q13434, Q32SG5, Q3T1I4, Q3TJZ6, Q3UMQ8, Q3UPH1, Q4R3M1, Q5F3N9, Q5FWT1, Q5R679, Q5XJA3, Q5Z8L1, Q66H68, Q6ICG8, Q6P870, Q7G6K7, Q7ZYB4, Q8AVN9, Q8LA32, Q8R478, Q8R4X3, Q93YP4, Q94JZ8, Q969T9, Q96M27, Q9C5P0, Q9C6S1, Q9D529, Q9FF15

Diamond homologs: A3KFF6, P97765, Q4R3M1, Q6ICG8, Q8R478, Q969T9, Q9D529, O14032

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
SRC	“up-regulates activity”	WBP2	phosphorylation
YES1	“up-regulates activity”	WBP2	phosphorylation
YAP/TAZ	“up-regulates activity”	WBP2	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

157 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	74
Likely benign	44
Benign	16

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1210338	NM_012478.4(WBP2):c.161C>G (p.Pro54Arg)	Likely pathogenic

SpliceAI

982 predictions. Top by Δscore:

Variant	Effect	Δscore
17:75846783:TGGCT:T	acceptor_gain	1.0000
17:75846786:CT:C	acceptor_gain	1.0000
17:75846787:TC:T	acceptor_loss	1.0000
17:75846788:C:CC	acceptor_gain	1.0000
17:75846788:CTAA:C	acceptor_loss	1.0000
17:75846902:TCTCA:T	donor_loss	1.0000
17:75846903:CTCA:C	donor_loss	1.0000
17:75846904:TCA:T	donor_loss	1.0000
17:75846905:CA:C	donor_loss	1.0000
17:75846907:C:CT	donor_loss	1.0000
17:75846982:CGG:C	acceptor_gain	1.0000
17:75846985:C:CC	acceptor_gain	1.0000
17:75847483:TCAC:T	donor_loss	1.0000
17:75847484:CAC:C	donor_loss	1.0000
17:75847485:A:AT	donor_loss	1.0000
17:75847486:C:T	donor_loss	1.0000
17:75847608:CT:C	acceptor_gain	1.0000
17:75847610:C:CC	acceptor_gain	1.0000
17:75847615:C:CT	acceptor_gain	1.0000
17:75847616:G:T	acceptor_gain	1.0000
17:75847617:G:C	acceptor_gain	1.0000
17:75847791:CTCA:C	donor_loss	1.0000
17:75847792:TCA:T	donor_loss	1.0000
17:75847793:CAC:C	donor_loss	1.0000
17:75847842:T:A	donor_gain	1.0000
17:75847931:C:CC	acceptor_gain	1.0000
17:75847937:G:GC	acceptor_gain	1.0000
17:75848543:AGCC:A	donor_gain	1.0000
17:75848566:ATAC:A	donor_loss	1.0000
17:75848567:TACCT:T	donor_loss	1.0000

AlphaMissense

1707 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:75848599:C:T	G123E	1.000
17:75848625:G:C	F114L	1.000
17:75848625:G:T	F114L	1.000
17:75848626:A:G	F114S	1.000
17:75848627:A:G	F114L	1.000
17:75848657:A:G	W104R	1.000
17:75848657:A:T	W104R	1.000
17:75849638:G:C	N90K	1.000
17:75849638:G:T	N90K	1.000
17:75849656:C:A	Q84H	1.000
17:75849656:C:G	Q84H	1.000
17:75851569:C:G	R56P	1.000
17:75851581:A:G	L52P	1.000
17:75851594:C:G	G48R	1.000
17:75848578:G:T	A130E	0.999
17:75848600:C:G	G123R	0.999
17:75848600:C:T	G123R	0.999
17:75848611:G:T	A119D	0.999
17:75848617:C:T	G117E	0.999
17:75848655:C:A	W104C	0.999
17:75848655:C:G	W104C	0.999
17:75849627:C:T	G94E	0.999
17:75849628:C:G	G94R	0.999
17:75849628:C:T	G94R	0.999
17:75849633:A:T	I92N	0.999
17:75849648:A:G	F87S	0.999
17:75849651:A:T	V86E	0.999
17:75849655:G:A	P85S	0.999
17:75849702:G:A	S69F	0.999
17:75849703:A:G	S69P	0.999

dbSNP variants (sampled 300 via entrez): RS1000062560 (17:75854005 A>G), RS1000356414 (17:75849348 A>G), RS1000797249 (17:75847969 C>T), RS1001003767 (17:75858355 G>A), RS1001200365 (17:75855101 G>C), RS1001631501 (17:75848575 G>A), RS1001699433 (17:75852410 C>T), RS1001847309 (17:75847731 G>T), RS1003078913 (17:75858090 C>A,T), RS1003353080 (17:75851442 G>A), RS1003429391 (17:75852309 A>G), RS1003761151 (17:75855475 T>A,C), RS1003812148 (17:75855693 G>C), RS1004043486 (17:75847274 C>T), RS1004151656 (17:75851034 CT>C)

Disease associations

OMIM: gene MIM:606962 | disease phenotypes: MIM:617639

GenCC curated gene-disease

Disease	Classification	Inheritance
hearing loss, autosomal recessive 107	Moderate	Autosomal recessive
hearing loss, autosomal recessive	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
hearing loss, autosomal recessive	Limited	AR

Mondo (2): hearing loss, autosomal recessive 107 (MONDO:0033199), hearing loss, autosomal recessive (MONDO:0019588)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST010101_18	White matter hyperintensities	5.000000e-36
GCST010988_67	Adult body size	5.000000e-08
GCST90002402_417	Platelet count	2.000000e-10
GCST90002403_370	Red blood cell count	6.000000e-10

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0005665	white matter hyperintensity measurement
EFO:0004309	platelet count
EFO:0004305	erythrocyte count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C564609	Deafness, Autosomal Recessive (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725057 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

38 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	affects response to substance, increases expression	3
Tobacco Smoke Pollution	affects expression, increases expression	3
Cyclosporine	increases expression	3
bisphenol A	affects expression, increases expression	2
sodium arsenite	increases abundance, increases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
cobaltous chloride	increases expression	1
chloropicrin	increases expression	1
K 7174	increases expression	1
nutlin 3	affects cotreatment, increases secretion	1
bisphenol B	increases expression	1
abrine	increases expression	1
bisphenol S	increases expression	1
jinfukang	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
Temozolomide	decreases expression	1
Arsenic	increases abundance, increases expression	1
Aspirin	decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	decreases expression, increases abundance	1
Cisplatin	affects cotreatment, increases expression	1
Dactinomycin	affects cotreatment, increases secretion	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Ivermectin	decreases expression	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5697368	Binding	Inhibition of WBP2 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2L9	Abcam HeLa WBP2 KO	Cancer cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.