PAGE2B

Summary

PAGE2B (PAGE family member 2B, HGNC:31805) is a protein-coding gene on chromosome Xp11.21, encoding Putative G antigen family E member 3 (Q5JRK9).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 22 total — 1 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_001015038

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31805
Approved symbol	PAGE2B
Name	PAGE family member 2B
Location	Xp11.21
Locus type	gene with protein product
Status	Approved
Aliases	CT16.5
Ensembl gene	ENSG00000238269
Ensembl biotype	protein_coding
Entrez	389860

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000374971, ENST00000374974, ENST00000879400

RefSeq mRNA: 1 — MANE Select: NM_001015038 NM_001015038

CCDS: CCDS35304

Canonical transcript exons

ENST00000374971 — 5 exons

Exon	Start	End
ENSE00001614752	55076034	55076125
ENSE00001615427	55077399	55077524
ENSE00001657034	55076569	55076677
ENSE00001799352	55075030	55075114
ENSE00001919701	55078782	55078909

Expression profiles

Bgee: expression breadth ubiquitous, 122 present calls, max score 95.62.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3790 / max 254.5753, expressed in 23 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
196453	0.2836	21
196454	0.0955	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	95.62	gold quality
right testis	UBERON:0004534	94.68	gold quality
testis	UBERON:0000473	93.87	gold quality
left testis	UBERON:0004533	93.74	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.89	gold quality
blood	UBERON:0000178	71.13	gold quality
monocyte	CL:0000576	68.55	gold quality
leukocyte	CL:0000738	66.21	gold quality
granulocyte	CL:0000094	59.14	gold quality
bone marrow	UBERON:0002371	58.79	gold quality
lower esophagus mucosa	UBERON:0035834	57.62	gold quality
right uterine tube	UBERON:0001302	56.08	gold quality
spleen	UBERON:0002106	54.86	gold quality
right lung	UBERON:0002167	50.81	gold quality
small intestine Peyer’s patch	UBERON:0003454	50.35	gold quality
skin of abdomen	UBERON:0001416	49.15	gold quality
apex of heart	UBERON:0002098	49.05	gold quality
right lobe of liver	UBERON:0001114	48.88	gold quality
descending thoracic aorta	UBERON:0002345	48.44	gold quality
zone of skin	UBERON:0000014	47.75	gold quality
mucosa of transverse colon	UBERON:0004991	47.52	gold quality
small intestine	UBERON:0002108	47.51	gold quality
skin of leg	UBERON:0001511	46.97	gold quality
left ovary	UBERON:0002119	46.83	gold quality
bone marrow cell	CL:0002092	46.45	silver quality
ovary	UBERON:0000992	46.16	gold quality
popliteal artery	UBERON:0002250	46.16	gold quality
tibial artery	UBERON:0007610	46.13	gold quality
right ovary	UBERON:0002118	46.01	gold quality
substantia nigra	UBERON:0002038	44.88	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	758.23
E-ANND-3	no	1.13

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting PAGE2B, 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-5582-3P	99.86	72.48	4221
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-6507-5P	99.36	70.46	2524
HSA-MIR-520A-5P	99.35	66.72	1632
HSA-MIR-525-5P	99.35	66.85	1615
HSA-MIR-488-5P	99.28	68.12	821
HSA-MIR-4477A	98.83	69.75	2952

Cross-species orthologs

0 orthologs

Paralogs (22): PAGE1 (ENSG00000068985), PAGE4 (ENSG00000101951), XAGE2 (ENSG00000155622), PAGE5 (ENSG00000158639), XAGE3 (ENSG00000171402), XAGE5 (ENSG00000171405), GAGE2A (ENSG00000189064), PAGE3 (ENSG00000204279), XAGE1A (ENSG00000204379), XAGE1B (ENSG00000204382), GAGE1 (ENSG00000205777), GAGE12G (ENSG00000215269), GAGE10 (ENSG00000215274), GAGE12E (ENSG00000216649), GAGE12J (ENSG00000224659), GAGE12H (ENSG00000224902), GAGE12D (ENSG00000227488), PAGE2 (ENSG00000234068), GAGE12F (ENSG00000236362), GAGE12C (ENSG00000237671), GAGE13 (ENSG00000274274), GAGE2E (ENSG00000275113)

Protein

Protein identifiers

Putative G antigen family E member 3 — Q5JRK9 (reviewed: Q5JRK9)

Alternative names: Prostate-associated gene 2B protein

All UniProt accessions (2): Q5JRK9, Q5JRL0

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the GAGE family.

RefSeq proteins (1): NP_001015038* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008625	GAGE_fam	Family
IPR031320	GAGE	Domain

Pfam: PF05831

UniProt features (4 total): chain 1, region of interest 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5JRK9-F1	62.21	0.00

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): 97

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 6 (showing top): chrXp11, MIR5582_3P, MIR4477A, MIR3180_5P, HAY_BONE_MARROW_ERYTHROBLAST, SU_HO_CONV_CENT_CHONDROSARCOMA_LEUKOCYTE_C3_SKELETAL_PROGENITOR_LIKE_CELL

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

202 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PAGE2B	VCF2	Q5XKR9	543
PAGE2B	CPXCR1	Q8N123	485
PAGE2B	MAGEB10	Q96LZ2	478
PAGE2B	MAGEB2	O15479	477
PAGE2B	AIDA	Q96BJ3	447
PAGE2B	PABIR2	Q7Z309	434
PAGE2B	MTRNR2L10	P0CJ77	419
PAGE2B	SPANXA1	Q9NS26	400
PAGE2B	DCAF4L1	Q3SXM0	397
PAGE2B	CT45A3	P0DMU6	395
PAGE2B	PAGE1	O75459	392
PAGE2B	ITIH6	Q6UXX5	380
PAGE2B	GAGE4	P0DSO3	377
PAGE2B	DUSP21	Q9H596	371
PAGE2B	SPANXD	Q9BXN6	371

IntAct

4 interactions, top by confidence:

A	B	Type	Score
PAGE2B	CRMP1	psi-mi:“MI:0915”(physical association)	0.400
SFSWAP	U2SURP	psi-mi:“MI:0914”(association)	0.350
CACNA2D3	GPAA1	psi-mi:“MI:0914”(association)	0.350

BioGRID (5): PAGE2B (Synthetic Lethality), PAGE2B (Affinity Capture-MS), CRMP1 (Affinity Capture-MS), PAGE2B (Affinity Capture-MS), PAGE2B (Affinity Capture-MS)

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: O75459, Q5JRK9, Q5JUK9, Q7Z2X7, Q8WTP9, Q8WWM1, Q96GT9, Q96GU1, A6NGK3, A1L429, A6NDE8, A6NER3, O76087, P0CL80, P0CL81, P0CL82, P0DSO3, P0DTW1, Q13066, Q13069, Q13070, Q4V321, Q4V326, Q6NT46, Q9UEU5, Q9HD64

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	13
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
3377333	NM_000032.5(ALAS2):c.-15-2187T>C	Pathogenic
2500873	NM_000032.5(ALAS2):c.-15-2188A>G	Likely pathogenic

SpliceAI

715 predictions. Top by Δscore:

Variant	Effect	Δscore
X:55076032:A:AG	acceptor_gain	1.0000
X:55076033:G:GG	acceptor_gain	1.0000
X:55076122:GATT:G	donor_gain	1.0000
X:55076126:G:GG	donor_gain	1.0000
X:55076565:TTAG:T	acceptor_loss	1.0000
X:55076673:TCAAG:T	donor_loss	1.0000
X:55076675:AAG:A	donor_loss	1.0000
X:55076676:AGGTG:A	donor_loss	1.0000
X:55076677:GG:G	donor_loss	1.0000
X:55076678:G:GA	donor_loss	1.0000
X:55076679:T:A	donor_loss	1.0000
X:55076684:G:GT	donor_gain	1.0000
X:55076685:G:T	donor_gain	1.0000
X:55076686:A:T	donor_gain	1.0000
X:55076711:G:GA	donor_gain	1.0000
X:55077394:TTAA:T	acceptor_loss	1.0000
X:55077396:A:AG	acceptor_gain	1.0000
X:55077396:AAG:A	acceptor_gain	1.0000
X:55077396:AAGG:A	acceptor_gain	1.0000
X:55077397:A:AG	acceptor_gain	1.0000
X:55077397:A:AT	acceptor_loss	1.0000
X:55077397:AG:A	acceptor_gain	1.0000
X:55077397:AGG:A	acceptor_gain	1.0000
X:55077398:G:A	acceptor_gain	1.0000
X:55077398:G:GG	acceptor_gain	1.0000
X:55077398:GGG:G	acceptor_gain	1.0000
X:55077478:G:GT	donor_gain	1.0000
X:55077479:G:T	donor_gain	1.0000
X:55077518:G:GT	donor_gain	1.0000
X:55077520:AGCAG:A	donor_loss	1.0000

AlphaMissense

726 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:55076045:A:C	S2R	0.722
X:55076047:T:A	S2R	0.722
X:55076047:T:G	S2R	0.722
X:55076046:G:T	S2I	0.642

dbSNP variants (sampled 300 via entrez): RS1000027015 (X:55076466 A>G,T), RS1000089300 (X:55066566 T>TA), RS1000156857 (X:55062984 T>G), RS1000251873 (X:55066992 G>A), RS1000260422 (X:55033009 T>C), RS1000397393 (X:55063977 T>A), RS1000452185 (X:55071394 T>C), RS1000757188 (X:55046800 T>C), RS1000846062 (X:55044597 C>G), RS1000889611 (X:55044792 A>G), RS1001024121 (X:55035344 G>A,C), RS1001092401 (X:55035638 A>G), RS1001146981 (X:55046249 G>T), RS1001207718 (X:55045212 C>G), RS1001365586 (X:55067553 C>T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:300751

GenCC curated gene-disease

Mondo (1): X-linked sideroblastic anemia 1 (MONDO:0020721)

Orphanet (1): X-linked sideroblastic anemia (Orphanet:75563)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST003983_18	Male-pattern baldness	8.000000e-13

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C536761	X-linked sideroblastic anemia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
propionaldehyde	increases expression	1
butyraldehyde	increases expression	1
bisphenol S	decreases methylation	1
Decitabine	increases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Silicon Dioxide	decreases expression	1
Valproic Acid	increases methylation	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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