XAGE5

Summary

XAGE5 (X antigen family member 5, HGNC:30930) is a protein-coding gene on chromosome Xp11.22, encoding X antigen family member 5 (Q8WWM1).

This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens.

Source: NCBI Gene 170627 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 19 total
• MANE Select transcript: NM_001386970

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30930
Approved symbol	XAGE5
Name	X antigen family member 5
Location	Xp11.22
Locus type	gene with protein product
Status	Approved
Aliases	XAGE-5, CT12.5
Ensembl gene	ENSG00000171405
Ensembl biotype	protein_coding
OMIM	301063
Entrez	170627

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 1 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000375501, ENST00000375503, ENST00000445860

RefSeq mRNA: 2 — MANE Select: NM_001386970 NM_001386970, NM_130775

CCDS: CCDS14346

Canonical transcript exons

ENST00000375501 — 6 exons

Exon	Start	End
ENSE00001138732	52812559	52812638
ENSE00001606055	52813140	52813245
ENSE00003612443	52818191	52818301
ENSE00003688358	52815092	52815217
ENSE00003917174	52811287	52811412
ENSE00003919750	52811548	52811719

Expression profiles

Bgee: expression breadth broad, 20 present calls, max score 80.65.

Top tissues by expression

100 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	80.65	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.39	gold quality
testis	UBERON:0000473	61.91	gold quality
right testis	UBERON:0004534	61.72	gold quality
left testis	UBERON:0004533	61.68	gold quality
placenta	UBERON:0001987	42.36	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	36.44	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	33.02	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
right uterine tube	UBERON:0001302	31.24	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.58	gold quality
substantia nigra	UBERON:0002038	29.38	gold quality
liver	UBERON:0002107	28.90	gold quality
duodenum	UBERON:0002114	28.14	gold quality
superior frontal gyrus	UBERON:0002661	27.52	gold quality
tonsil	UBERON:0002372	27.05	gold quality
urinary bladder	UBERON:0001255	26.90	gold quality
skin of abdomen	UBERON:0001416	26.86	silver quality
blood	UBERON:0000178	26.67	silver quality
vermiform appendix	UBERON:0001154	26.42	gold quality
leukocyte	CL:0000738	26.27	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.95

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (22): PAGE1 (ENSG00000068985), PAGE4 (ENSG00000101951), XAGE2 (ENSG00000155622), PAGE5 (ENSG00000158639), XAGE3 (ENSG00000171402), 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), PAGE2B (ENSG00000238269), GAGE13 (ENSG00000274274), GAGE2E (ENSG00000275113)

Protein

Protein identifiers

X antigen family member 5 — Q8WWM1 (reviewed: Q8WWM1)

Alternative names: Cancer/testis antigen 12.5, G antigen family D member 5

All UniProt accessions (2): Q8WWM1, Q3SY49

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the GAGE family.

RefSeq proteins (2): NP_001373899, NP_570131 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008625	GAGE_fam	Family
IPR031320	GAGE	Domain

Pfam: PF05831

UniProt features (4 total): compositionally biased region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WWM1-F1	62.68	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 2 (showing top): ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, chrXp11

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

158 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
XAGE5	C10orf62	Q5T681	576
XAGE5	MAGEB10	Q96LZ2	570
XAGE5	CFAP141	Q5VU69	512
XAGE5	LIPI	Q6XZB0	502
XAGE5	OR5M3	Q8NGP4	477
XAGE5	PAGE5	Q96GU1	476
XAGE5	SPANXN4	Q5MJ08	448
XAGE5	ZNF285	Q96NJ3	447
XAGE5	ARMCX6	Q7L4S7	419
XAGE5	A6NGT6	A6NGT6	400
XAGE5	DUSP21	Q9H596	395
XAGE5	MAGEB2	O15479	393
XAGE5	VCX3B	Q9H321	391
XAGE5	ACRBP	Q8NEB7	375
XAGE5	PRSS50	Q9UI38	374

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0U1RQG5, A1L429, A6NDE8, A6NER3, A6NGK3, E1AZ71, O08664, O60829, O75459, O76087, P0C2W7, P0CL80, P0CL81, P0CL82, P0DSO3, P0DTW1, P52651, P62521, P86478, P86479, P86480, P86481, P86496, Q13066, Q13069, Q13070, Q17QW4, Q28181, Q2T9P9, Q32PA2, Q4V321, Q4V326, Q5JQC4, Q5U2Y8, Q62100, Q63803, Q64256, Q6NT46, Q6X7S9, Q7Z2X7

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

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	16
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

590 predictions. Top by Δscore:

Variant	Effect	Δscore
X:52815090:A:AG	acceptor_gain	1.0000
X:52815091:G:GG	acceptor_gain	1.0000
X:52815091:GT:G	acceptor_gain	1.0000
X:52815214:GGAG:G	donor_gain	1.0000
X:52815215:GAGG:G	donor_gain	1.0000
X:52815217:GGTA:G	donor_loss	1.0000
X:52815218:G:C	donor_loss	1.0000
X:52815219:T:G	donor_loss	1.0000
X:52812635:GCTT:G	donor_gain	0.9900
X:52812639:G:GG	donor_gain	0.9900
X:52813107:A:AG	acceptor_gain	0.9900
X:52813110:C:G	acceptor_gain	0.9900
X:52813234:C:G	donor_gain	0.9900
X:52813253:G:GT	donor_gain	0.9900
X:52813258:G:T	donor_gain	0.9900
X:52815086:TTTCA:T	acceptor_loss	0.9900
X:52815089:CA:C	acceptor_loss	0.9900
X:52815090:A:C	acceptor_loss	0.9900
X:52815090:AGT:A	acceptor_gain	0.9900
X:52815091:GTG:G	acceptor_gain	0.9900
X:52815091:GTGC:G	acceptor_gain	0.9900
X:52815091:GTGCC:G	acceptor_gain	0.9900
X:52815218:G:GG	donor_gain	0.9900
X:52818189:AGG:A	acceptor_gain	0.9900
X:52818190:GGG:G	acceptor_gain	0.9900
X:52813108:C:G	acceptor_gain	0.9800
X:52813109:A:AG	acceptor_gain	0.9800
X:52813112:C:G	acceptor_gain	0.9800
X:52813253:G:T	donor_gain	0.9800
X:52813259:A:T	donor_gain	0.9800

AlphaMissense

694 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:52812575:G:C	W3C	0.677
X:52812575:G:T	W3C	0.677
X:52815199:T:C	F96L	0.583
X:52815201:T:A	F96L	0.583
X:52815201:T:G	F96L	0.583
X:52812593:A:C	R9S	0.572
X:52812593:A:T	R9S	0.572

dbSNP variants (sampled 300 via entrez): RS1003005575 (X:52809551 T>C), RS1003358942 (X:52810080 C>T), RS1006755160 (X:52809428 A>G), RS1008271768 (X:52811037 G>C), RS1013066009 (X:52810665 G>T), RS1014056249 (X:52811973 G>C), RS1014192222 (X:52811736 G>A), RS1015518371 (X:52811431 G>A), RS1015884292 (X:52811665 C>A,G), RS1019301113 (X:52810809 C>T), RS1019332479 (X:52811048 T>C), RS1021854826 (X:52810155 G>A), RS1021887271 (X:52810667 G>A), RS1022863771 (X:52811765 G>A), RS1022894706 (X:52812009 A>G)

Disease associations

OMIM: gene MIM:301063 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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