PWWP3B

Summary

PWWP3B (PWWP domain containing 3B, HGNC:26583) is a protein-coding gene on chromosome Xq22.3, encoding PWWP domain-containing DNA repair factor 3B (Q5H9M0).

This gene encodes a protein which contains a mutated melanoma-associated antigen 1 domain. Proteins which contain mutated antigens are expressed at high levels on certain types of cancers. Multiple alternatively spliced variants, encoding the same protein, have been identified.

Source: NCBI Gene 139221 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 93 total
• MANE Select transcript: NM_001171020

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26583
Approved symbol	PWWP3B
Name	PWWP domain containing 3B
Location	Xq22.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ33516
Ensembl gene	ENSG00000157502
Ensembl biotype	protein_coding
Entrez	139221

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 25 protein_coding

ENST00000337685, ENST00000357175, ENST00000372552, ENST00000887737, ENST00000887738, ENST00000887739, ENST00000927380, ENST00000927381, ENST00000927382, ENST00000964772, ENST00000964773, ENST00000964774, ENST00000964775, ENST00000964776, ENST00000964777, ENST00000964778, ENST00000964779, ENST00000964780, ENST00000964781, ENST00000964782, ENST00000964783, ENST00000964784, ENST00000964785, ENST00000964786, ENST00000964787

RefSeq mRNA: 2 — MANE Select: NM_001171020 NM_001171020, NM_152423

CCDS: CCDS55469

Canonical transcript exons

ENST00000357175 — 4 exons

Exon	Start	End
ENSE00001032952	106203985	106204170
ENSE00001416656	106171012	106171139
ENSE00001418960	106168305	106168425
ENSE00001432493	106205219	106208956

Expression profiles

Bgee: expression breadth ubiquitous, 202 present calls, max score 96.46.

FANTOM5 (CAGE): breadth broad, TPM avg 1.3750 / max 114.8289, expressed in 372 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
197151	0.7290	194
197154	0.3294	184
197152	0.1912	101
197155	0.0823	37
197153	0.0430	18

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ovary	UBERON:0002119	96.46	gold quality
germinal epithelium of ovary	UBERON:0001304	95.94	gold quality
right ovary	UBERON:0002118	94.62	gold quality
ovary	UBERON:0000992	94.21	gold quality
decidua	UBERON:0002450	92.57	gold quality
deltoid	UBERON:0001476	91.18	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	91.08	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	90.47	gold quality
biceps brachii	UBERON:0001507	90.00	gold quality
vastus lateralis	UBERON:0001379	89.96	gold quality
quadriceps femoris	UBERON:0001377	89.53	gold quality
tibialis anterior	UBERON:0001385	89.42	gold quality
corpus epididymis	UBERON:0004359	87.19	gold quality
caput epididymis	UBERON:0004358	86.73	gold quality
left uterine tube	UBERON:0001303	86.27	gold quality
skeletal muscle tissue	UBERON:0001134	86.01	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.61	gold quality
right testis	UBERON:0004534	84.44	gold quality
stromal cell of endometrium	CL:0002255	84.10	gold quality
body of pancreas	UBERON:0001150	83.44	gold quality
testis	UBERON:0000473	83.42	gold quality
muscle tissue	UBERON:0002385	83.05	gold quality
pons	UBERON:0000988	82.60	gold quality
left testis	UBERON:0004533	82.56	gold quality
Brodmann (1909) area 46	UBERON:0006483	82.52	gold quality
endometrium	UBERON:0001295	82.27	gold quality
epithelial cell of pancreas	CL:0000083	82.24	silver quality
endocervix	UBERON:0000458	82.09	gold quality
myometrium	UBERON:0001296	81.23	gold quality
uterus	UBERON:0000995	81.05	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.18

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

106 targeting PWWP3B, 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-1277-5P	100.00	73.95	5056
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-374B-5P	99.90	69.98	2734

Literature-anchored findings (GeneRIF, showing 1)

• MUM1L1 as a Tumor Suppressor and Potential Biomarker in Ovarian Cancer: Evidence from Bioinformatics Analysis and Basic Experiments. (PMID:36856181)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkey-57k2.7	ENSDARG00000060395
mus_musculus	Pwwp3b	ENSMUSG00000042515
rattus_norvegicus	Pwwp3b	ENSRNOG00000030475

Paralogs (2): PWWP3A (ENSG00000160953), PWWP4 (ENSG00000278803)

Protein

Protein identifiers

PWWP domain-containing DNA repair factor 3B — Q5H9M0 (reviewed: Q5H9M0)

Alternative names: Mutated melanoma-associated antigen 1-like protein 1, PWWP domain-containing protein MUM1L1

All UniProt accessions (1): Q5H9M0

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the PWWP3A family.

RefSeq proteins (2): NP_001164491, NP_689636 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR035504	MUM1-like_PWWP	Domain
IPR040263	PWP3A_3B_4	Family
IPR048765	PWP3A_3B_4_N	Domain
IPR048795	PWP3A_3B_4_C	Domain

Pfam: PF20884, PF20886, PF20887

UniProt features (10 total): region of interest 2, compositionally biased region 2, sequence conflict 2, chain 1, domain 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5H9M0-F1	62.78	0.20

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 (1): 128

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 99 (showing top): AAGCAAT_MIR137, AREB6_01, CERVERA_SDHB_TARGETS_1_DN, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, WONG_ENDMETRIUM_CANCER_DN, LU_TUMOR_VASCULATURE_DN, VECCHI_GASTRIC_CANCER_EARLY_DN, TTCNRGNNNNTTC_HSF_Q6, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, ZHOU_INFLAMMATORY_RESPONSE_LIVE_UP, chrXq22, PASINI_SUZ12_TARGETS_DN, PEDERSEN_METASTASIS_BY_ERBB2_ISOFORM_4, PLASARI_TGFB1_TARGETS_10HR_DN

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): extracellular exosome (GO:0070062)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
extracellular vesicle	1

Protein interactions and networks

STRING

1811 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PWWP3B	RCBTB2	O95199	417
PWWP3B	PABIR2	Q7Z309	394
PWWP3B	TMEM255B	Q8WV15	375
PWWP3B	ZNF285	Q96NJ3	372
PWWP3B	VGLL3	A8MV65	370
PWWP3B	XAGE5	Q8WWM1	370
PWWP3B	PTH2R	P49190	359
PWWP3B	RADX	Q6NSI4	355
PWWP3B	VSTM4	Q8IW00	354
PWWP3B	PAGE2B	Q5JRK9	349
PWWP3B	HMGN3	Q15651	334
PWWP3B	SASH3	O75995	328
PWWP3B	SHROOM1	Q2M3G4	328
PWWP3B	DUSP21	Q9H596	325
PWWP3B	ZNF467	Q7Z7K2	324
PWWP3B	SERTM1	A2A2V5	324

IntAct

2 interactions, top by confidence:

A	B	Type	Score
PWWP3B	THRAP3	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (4): MUM1L1 (Protein-peptide), MUM1L1 (Affinity Capture-MS), THRAP3 (Proximity Label-MS), MUM1L1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0M3U1B0, A0A1L8EYB2, A0JMF7, A1L2Y1, A2ALV5, A9JRX0, B2GUZ2, D3ZSP7, F1QB81, O35892, O70608, O75113, P23497, P70347, Q0P5X5, Q13129, Q16533, Q2T9I9, Q3U1D0, Q5CZC0, Q5H9M0, Q5REF4, Q5RHB5, Q5SW75, Q5T4T6, Q5T5J6, Q5XG69, Q5ZLE9, Q60664, Q63HN8, Q7M6U3, Q7Z4H7, Q80VH0, Q8BVK9, Q8C263, Q8CCC3, Q8NA03, Q90WN7, Q92844, Q96QP1

Diamond homologs: A0A494C071, B1H224, Q08DK9, Q2TAK8, Q4VA55, Q5H9M0, Q6DID5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	78
Likely benign	7
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

821 predictions. Top by Δscore:

Variant	Effect	Δscore
X:106170991:ATT:A	acceptor_gain	1.0000
X:106170993:T:TA	acceptor_gain	1.0000
X:106170998:T:A	acceptor_gain	1.0000
X:106171011:GCC:G	acceptor_gain	1.0000
X:106203984:GCAT:G	acceptor_gain	1.0000
X:106203984:GCATA:G	acceptor_gain	1.0000
X:106204167:GTGG:G	donor_gain	1.0000
X:106170991:ATTG:A	acceptor_gain	0.9900
X:106170992:T:G	acceptor_gain	0.9900
X:106171006:T:TA	acceptor_gain	0.9900
X:106171010:A:AG	acceptor_gain	0.9900
X:106171011:G:GA	acceptor_gain	0.9900
X:106171011:GCCGA:G	acceptor_gain	0.9900
X:106171140:GTGA:G	donor_gain	0.9900
X:106203983:A:AG	acceptor_gain	0.9900
X:106203984:G:GA	acceptor_gain	0.9900
X:106203984:GC:G	acceptor_gain	0.9900
X:106203984:GCA:G	acceptor_gain	0.9900
X:106204166:AGTGG:A	donor_loss	0.9900
X:106204168:TGG:T	donor_gain	0.9900
X:106204168:TGGG:T	donor_loss	0.9900
X:106204169:GG:G	donor_gain	0.9900
X:106204169:GGG:G	donor_gain	0.9900
X:106204170:GG:G	donor_gain	0.9900
X:106204171:G:GG	donor_gain	0.9900
X:106205217:A:AG	acceptor_gain	0.9900
X:106205218:G:GA	acceptor_gain	0.9900
X:106205218:GT:G	acceptor_gain	0.9900
X:106168364:G:GT	donor_gain	0.9800
X:106170991:A:AG	acceptor_gain	0.9800

AlphaMissense

4605 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:106206619:T:A	V396D	0.999
X:106206621:T:A	W397R	0.999
X:106206621:T:C	W397R	0.999
X:106206648:T:A	W406R	0.999
X:106206648:T:C	W406R	0.999
X:106206654:G:C	A408P	0.999
X:106206760:T:C	L443S	0.999
X:106207362:G:C	A644P	0.999
X:106206623:G:C	W397C	0.998
X:106206623:G:T	W397C	0.998
X:106206650:G:C	W406C	0.998
X:106206650:G:T	W406C	0.998
X:106206651:C:T	P407S	0.998
X:106206652:C:A	P407Q	0.998
X:106206655:C:A	A408E	0.998
X:106206885:T:C	F485L	0.998
X:106206887:C:A	F485L	0.998
X:106206887:C:G	F485L	0.998
X:106207410:G:C	A660P	0.998
X:106207411:C:A	A660D	0.998
X:106206649:G:C	W406S	0.997
X:106206697:T:A	V422E	0.997
X:106206924:A:C	S498R	0.997
X:106206926:T:A	S498R	0.997
X:106206926:T:G	S498R	0.997
X:106207422:T:C	Y664H	0.997
X:106207422:T:G	Y664D	0.997
X:106207423:A:C	Y664S	0.997
X:106206622:G:C	W397S	0.996
X:106206652:C:G	P407R	0.996

dbSNP variants (sampled 300 via entrez): RS1000030856 (X:106180474 G>A,T), RS1000175525 (X:106181100 A>C), RS1000177418 (X:106204605 A>G), RS1000206669 (X:106180672 G>A,C), RS1000290549 (X:106189907 G>A), RS1000458742 (X:106186515 A>G), RS1000479689 (X:106169795 G>A), RS1000494552 (X:106199291 C>T), RS1000574105 (X:106195539 G>A), RS1000682540 (X:106208891 A>G), RS1000740008 (X:106168631 G>A), RS1000803882 (X:106189356 A>G), RS1000919374 (X:106179135 T>C,G), RS1001076257 (X:106172086 A>G), RS1001287265 (X:106170186 T>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008839_302	Height	2.000000e-10

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression, decreases methylation	6
methylmercuric chloride	decreases expression	3
trichostatin A	increases expression	2
Phenylmercuric Acetate	increases expression, affects cotreatment	2
Cyclosporine	decreases expression	2
pirinixic acid	affects binding, decreases expression, increases activity	1
afimoxifene	decreases expression, decreases reaction	1
ferrous chloride	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Vorinostat	increases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Estrogens	decreases expression, decreases reaction	1
Progesterone	increases expression	1
Tetrachlorodibenzodioxin	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Aflatoxin B1	increases methylation	1
Okadaic Acid	decreases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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