PAGE3

Summary

PAGE3 (PAGE family member 3, HGNC:4110) is a protein-coding gene on chromosome Xp11.21, encoding P antigen family member 3 (Q5JUK9).

This gene is a member of family of proteins that are expressed in a variety of tumors and in some fetal and reproductive tissues. Multiple alternatively spliced transcript variants have been observed.

Source: NCBI Gene 139793 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_001017931

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4110
Approved symbol	PAGE3
Name	PAGE family member 3
Location	Xp11.21
Locus type	gene with protein product
Status	Approved
Aliases	PAGE-3, CT16.6
Ensembl gene	ENSG00000204279
Ensembl biotype	protein_coding
OMIM	300739
Entrez	139793

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000374951, ENST00000519203

RefSeq mRNA: 3 — MANE Select: NM_001017931 NM_001017931, NM_001171252, NM_001303613

CCDS: CCDS35307

Canonical transcript exons

ENST00000374951 — 5 exons

Exon	Start	End
ENSE00001465234	55258415	55258528
ENSE00001465235	55260534	55260659
ENSE00001465236	55263251	55263359
ENSE00001465237	55263820	55263911
ENSE00001465238	55264546	55264916

Expression profiles

Bgee: expression breadth broad, 20 present calls, max score 94.80.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
quadriceps femoris	UBERON:0001377	94.80	gold quality
cerebellar vermis	UBERON:0004720	93.17	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.26	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.81	gold quality
thymus	UBERON:0002370	82.84	silver quality
right testis	UBERON:0004534	74.79	gold quality
left testis	UBERON:0004533	74.20	gold quality
testis	UBERON:0000473	73.93	gold quality
colonic epithelium	UBERON:0000397	56.45	silver quality
bone marrow cell	CL:0002092	51.33	silver quality
skeletal muscle tissue	UBERON:0001134	40.99	gold quality
muscle tissue	UBERON:0002385	36.68	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
liver	UBERON:0002107	30.87	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
urinary bladder	UBERON:0001255	28.24	gold quality
duodenum	UBERON:0002114	28.14	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	27.97	silver quality
monocyte	CL:0000576	27.72	gold quality
leukocyte	CL:0000738	27.71	gold quality
lymph node	UBERON:0000029	27.57	gold quality
uterine cervix	UBERON:0000002	27.55	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.11

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (22): PAGE1 (ENSG00000068985), PAGE4 (ENSG00000101951), XAGE2 (ENSG00000155622), PAGE5 (ENSG00000158639), XAGE3 (ENSG00000171402), XAGE5 (ENSG00000171405), GAGE2A (ENSG00000189064), XAGE1A (ENSG00000204379), XAGE1B (ENSG00000204382), GAGE1 (ENSG00000205777), GAGE12G (ENSG00000215269), GAGE10 (ENSG00000215274), GAGE12E (ENSG00000216649), GAGE12J (ENSG00000224659), GAGE12H (ENSG00000224902), GAGE12D (ENSG00000227488), PAGE2 (ENSG00000234068), GAGE12F (ENSG00000236362), GAGE12C (ENSG00000237671), PAGE2B (ENSG00000238269), GAGE13 (ENSG00000274274), GAGE2E (ENSG00000275113)

Protein

Protein identifiers

P antigen family member 3 — Q5JUK9 (reviewed: Q5JUK9)

Alternative names: G antigen family D member 1, Prostate-associated gene 3 protein

All UniProt accessions (1): Q5JUK9

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the GAGE family.

RefSeq proteins (3): NP_001017931, NP_001164723, NP_001290542 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008625	GAGE_fam	Family
IPR031320	GAGE	Domain

Pfam: PF05831

UniProt features (6 total): region of interest 2, sequence variant 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5JUK9-F1	64.27	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 3 (showing top): chrXp11, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GSE22342_CD11C_HIGH_VS_LOW_DECIDUAL_MACROPHAGES_DN

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

30 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PAGE3	C12orf54	Q6X4T0	662
PAGE3	VCX	Q9H320	507
PAGE3	MAGEB1	P43366	474
PAGE3	PAGE1	O75459	266
PAGE3	ESCO1	Q5FWF5	220
PAGE3	ESCO2	Q56NI9	220
PAGE3	CHD7	Q9P2D1	204
PAGE3	SERPINF2	P08697	202
PAGE3	LIN28B	Q6ZN17	199
PAGE3	PAGE4	O60829	192
PAGE3	PAICS	P22234	165
PAGE3	ADSL	P30566	165
PAGE3	DLGAP2	Q9P1A6	158
PAGE3	MEOX1	P50221	0
PAGE3	Q15513	Q15513	0

IntAct

19 interactions, top by confidence:

A	B	Type	Score
PAGE3	MEOX1	psi-mi:“MI:0915”(physical association)	0.560
FAM9B	PAGE3	psi-mi:“MI:0915”(physical association)	0.560
MEOX1	PAGE3	psi-mi:“MI:0915”(physical association)	0.560
PAGE3	FAM9B	psi-mi:“MI:0915”(physical association)	0.560
SGTA	PAGE3	psi-mi:“MI:0915”(physical association)	0.560
PAGE3	SGTB	psi-mi:“MI:0915”(physical association)	0.560
SPHAR	PAGE3	psi-mi:“MI:0915”(physical association)	0.560
PAGE3	SGTA	psi-mi:“MI:0915”(physical association)	0.000
PAGE3	SGTB	psi-mi:“MI:0915”(physical association)	0.000
PAGE3	SPHAR	psi-mi:“MI:0915”(physical association)	0.000
SGTA	PAGE3	psi-mi:“MI:0915”(physical association)	0.000

ESM2 similar proteins: A1L429, A6NDE8, A6NER3, A6NGK3, O41801, O55777, O60829, O75459, O76087, P03204, P04611, P06937, P0CL80, P0CL81, P0CL82, P0DSO3, P0DTW1, P18804, P22421, P86478, P86479, P86480, P86481, P86496, Q13066, Q13069, Q13070, Q2T9P9, Q3KST0, Q4V321, Q4V326, Q5JRK9, Q5JUK9, Q6AY45, Q6I7R5, Q6IPX3, Q6NT46, Q7Z2X7, Q8AIH8, Q8CCT4

Diamond homologs: A1L429, A6NDE8, A6NER3, A6NGK3, O75459, O76087, P0CL80, P0CL81, P0CL82, P0DSO3, P0DTW1, Q13066, Q13069, Q13070, Q4V321, Q4V326, Q5JUK9, Q6NT46, Q8WTP9, Q8WWM1, Q96GT9, Q9UEU5, Q5JRK9, Q7Z2X7, Q96GU1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

727 predictions. Top by Δscore:

Variant	Effect	Δscore
X:55260529:CTTA:C	donor_loss	1.0000
X:55260530:TTA:T	donor_loss	1.0000
X:55260531:TA:T	donor_loss	1.0000
X:55260532:A:AC	donor_gain	1.0000
X:55260532:AC:A	donor_gain	1.0000
X:55260532:ACCTG:A	donor_gain	1.0000
X:55260533:C:CT	donor_gain	1.0000
X:55260533:CC:C	donor_gain	1.0000
X:55260533:CCT:C	donor_gain	1.0000
X:55260533:CCTG:C	donor_gain	1.0000
X:55260533:CCTGC:C	donor_gain	1.0000
X:55260655:TAGCA:T	acceptor_gain	1.0000
X:55260657:GCA:G	acceptor_gain	1.0000
X:55260658:CA:C	acceptor_gain	1.0000
X:55260658:CAC:C	acceptor_gain	1.0000
X:55260660:C:CC	acceptor_gain	1.0000
X:55260661:T:C	acceptor_gain	1.0000
X:55260661:T:TC	acceptor_gain	1.0000
X:55263207:ACAC:A	donor_gain	1.0000
X:55263207:ACACC:A	donor_gain	1.0000
X:55263208:CACC:C	donor_gain	1.0000
X:55263208:CACCC:C	donor_gain	1.0000
X:55263212:C:CA	donor_gain	1.0000
X:55263233:T:TA	donor_gain	1.0000
X:55263246:TTCAC:T	donor_loss	1.0000
X:55263247:TCA:T	donor_loss	1.0000
X:55263248:CAC:C	donor_loss	1.0000
X:55263249:A:AT	donor_loss	1.0000
X:55263250:C:A	donor_loss	1.0000
X:55263268:C:CA	donor_gain	1.0000

AlphaMissense

724 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:55260571:A:C	F94L	0.828
X:55260571:A:T	F94L	0.828
X:55260573:A:G	F94L	0.828
X:55260545:A:G	I103T	0.776
X:55260616:C:A	K79N	0.699
X:55260616:C:G	K79N	0.699
X:55260638:A:G	L72P	0.690
X:55263255:G:C	F63L	0.687
X:55263255:G:T	F63L	0.687
X:55263257:A:G	F63L	0.687
X:55260638:A:T	L72H	0.627
X:55260629:A:G	L75P	0.600
X:55263898:A:C	S2R	0.600
X:55263898:A:T	S2R	0.600
X:55263900:T:G	S2R	0.600
X:55260650:A:T	L68Q	0.576

dbSNP variants (sampled 300 via entrez): RS1001866243 (X:55258168 C>G), RS1002530504 (X:55262621 A>T), RS1003576119 (X:55262885 A>C), RS1003942673 (X:55260004 T>C), RS1004607468 (X:55264301 C>T), RS1004838381 (X:55264573 C>A,T), RS1004885768 (X:55259762 AT>A,ATT), RS1005329007 (X:55259516 T>C), RS1005401099 (X:55259098 T>C), RS1005879413 (X:55265769 A>C), RS1006733652 (X:55263495 ATATACT>A), RS1006890058 (X:55266088 A>G), RS1007687233 (X:55263086 C>T), RS1009221549 (X:55259016 A>G), RS1009252937 (X:55266569 C>T)

Disease associations

OMIM: gene MIM:300739 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002396_25	Smoking initiation	8.000000e-08
GCST006661_51	Male-pattern baldness	5.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005670	smoking initiation

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
bisphenol S	increases methylation	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1

Clinical trials (associated diseases)

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