CT45A6

Summary

CT45A6 (cancer/testis antigen family 45 member A6, HGNC:33271) is a protein-coding gene on chromosome Xq26.3, encoding Cancer/testis antigen family 45 member A6 (P0DMU7).

Located in nucleus.

Source: NCBI Gene 541465 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 4 total
• MANE Select transcript: NM_001017438

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33271
Approved symbol	CT45A6
Name	cancer/testis antigen family 45 member A6
Location	Xq26.3
Locus type	gene with protein product
Status	Approved
Aliases	CT45-6, CT45.6
Ensembl gene	ENSG00000278289
Ensembl biotype	protein_coding
OMIM	300797
Entrez	541465

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000612878, ENST00000620654

RefSeq mRNA: 1 — MANE Select: NM_001017438 NM_001017438

CCDS: CCDS35407

Canonical transcript exons

ENST00000620654 — 5 exons

Exon	Start	End
ENSE00003713939	135802511	135802787
ENSE00003720190	135796180	135796273
ENSE00003720629	135794685	135794955
ENSE00003723753	135798825	135798999
ENSE00003736639	135796655	135796903

Expression profiles

Bgee: expression breadth broad, 35 present calls, max score 91.11.

Top tissues by expression

121 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	91.11	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.13	gold quality
right testis	UBERON:0004534	63.18	gold quality
nucleus accumbens	UBERON:0001882	62.30	gold quality
testis	UBERON:0000473	57.62	gold quality
caudate nucleus	UBERON:0001873	57.62	gold quality
putamen	UBERON:0001874	55.75	gold quality
left testis	UBERON:0004533	54.63	gold quality
hypothalamus	UBERON:0001898	52.10	gold quality
adenohypophysis	UBERON:0002196	47.74	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	45.17	gold quality
pituitary gland	UBERON:0000007	43.39	gold quality
Ammon’s horn	UBERON:0001954	41.36	gold quality
amygdala	UBERON:0001876	39.93	gold quality
temporal lobe	UBERON:0001871	39.80	gold quality
superior frontal gyrus	UBERON:0002661	39.73	gold quality
brain	UBERON:0000955	39.43	gold quality
prefrontal cortex	UBERON:0000451	38.16	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
bone marrow cell	CL:0002092	36.16	gold quality
substantia nigra	UBERON:0002038	35.52	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	35.27	gold quality
frontal cortex	UBERON:0001870	34.77	gold quality
cerebral cortex	UBERON:0000956	33.32	gold quality
anterior cingulate cortex	UBERON:0009835	33.10	gold quality
muscle tissue	UBERON:0002385	32.45	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-6308	yes	217.11
E-HCAD-5	yes	151.27
E-ANND-3	no	0.06

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting CT45A6, 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-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-586	99.65	70.40	2051
HSA-MIR-5006-5P	98.79	66.92	1246
HSA-MIR-5572	98.55	65.84	970
HSA-MIR-6819-5P	97.96	66.59	1071
HSA-MIR-3151-3P	97.80	66.16	479
HSA-MIR-6737-5P	97.75	66.54	1044
HSA-MIR-6812-5P	97.56	65.39	1059
HSA-MIR-3674	97.01	68.86	1171
HSA-MIR-6747-5P	96.17	64.99	743

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ct45a	ENSMUSG00000064016
rattus_norvegicus	Ct45a9	ENSRNOG00000048059
drosophila_melanogaster	IntS6	FBGN0261383
caenorhabditis_elegans		WBGENE00000994

Paralogs (11): INTS6 (ENSG00000102786), INTS6L (ENSG00000165359), SAGE1 (ENSG00000181433), CT45A5 (ENSG00000228836), CT45A1 (ENSG00000268940), CT45A3 (ENSG00000269096), CT45A10 (ENSG00000269586), CT45A9 (ENSG00000270946), CT45A2 (ENSG00000271449), CT45A7 (ENSG00000273696), CT45A8 (ENSG00000278085)

Protein

Protein identifiers

Cancer/testis antigen family 45 member A6 — P0DMU7 (reviewed: P0DMU7)

Alternative names: Cancer/testis antigen 45-6, Cancer/testis antigen 45A6

All UniProt accessions (1): P0DMU7

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Testis specific. Expressed in cancer cell lines.

Similarity. Belongs to the CT45 family.

RefSeq proteins (1): NP_001017438* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029307	INT_SG_DDX_CT_C	Domain
IPR051113	Integrator_subunit6	Family

Pfam: PF15300

UniProt features (7 total): sequence conflict 3, region of interest 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DMU7-F1	70.23	0.23

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 3 (showing top): chrXq26, HE_LIM_SUN_FETAL_LUNG_C0_MYOFIBROBLAST_1_CELL, HE_LIM_SUN_FETAL_LUNG_C0_MYOFIBROBLAST_2_CELL

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

2 interactions, top by confidence:

A	B	Type	Score
CT45A6	AP3B1	psi-mi:“MI:0914”(association)	0.350

ESM2 similar proteins: A0FKI7, A2YX04, A5WUN7, A5WV69, A7J1T2, C5DZR8, E9Q555, F4J6F6, O43310, O48767, P0DMS1, P0DMU7, P0DMU8, P0DMU9, P0DMV0, P0DMV1, P0DMV2, Q0V9S3, Q12912, Q14693, Q1LXZ9, Q2NKQ1, Q2PFD7, Q3TEL6, Q502L1, Q5DJT8, Q5R7V3, Q5T8D3, Q5XG73, Q621Z7, Q640U0, Q641E3, Q6IRN6, Q6Z8M8, Q700C2, Q758T8, Q80Y56, Q811D2, Q8AV28, Q8BLN6

Diamond homologs: A6NJ88, P0DMU7, P0DMU8, P0DMU9, P0DMV0, P0DMV1, P0DMV2, Q2TAF4, Q5DJT8, Q5HYN5, Q5JSJ4, Q5U4W6, Q6PCM2, Q7SYD9, Q8BND4, Q8NHU0, Q9NXZ1, Q9UL03, Q54Z23, Q9W485

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	4
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

326 predictions. Top by Δscore:

Variant	Effect	Δscore
X:135796176:T:G	donor_loss	1.0000
X:135796177:G:A	donor_loss	1.0000
X:135796177:G:GG	donor_gain	1.0000
X:135796182:GCAAG:G	donor_gain	1.0000
X:135796188:G:GT	donor_gain	1.0000
X:135796216:G:GT	donor_gain	1.0000
X:135796272:G:GA	acceptor_gain	1.0000
X:135796272:GA:G	acceptor_gain	1.0000
X:135796272:GAA:G	acceptor_gain	1.0000
X:135796272:GAAT:G	acceptor_gain	1.0000
X:135796272:GAATA:G	acceptor_gain	1.0000
X:135796273:A:AG	acceptor_gain	1.0000
X:135796273:AG:A	acceptor_loss	1.0000
X:135796275:TCAGA:T	acceptor_loss	1.0000
X:135796276:TTCA:T	acceptor_loss	1.0000
X:135796278:T:G	acceptor_gain	1.0000
X:135796279:A:AG	acceptor_gain	1.0000
X:135796280:C:G	acceptor_gain	1.0000
X:135796281:A:AG	acceptor_gain	1.0000
X:135796282:A:AG	acceptor_gain	1.0000
X:135796651:T:G	donor_loss	1.0000
X:135796652:G:GG	donor_gain	1.0000
X:135796653:AG:A	donor_loss	1.0000
X:135796654:AA:A	donor_gain	1.0000
X:135796902:GA:G	acceptor_gain	1.0000
X:135794954:G:GT	acceptor_gain	0.9900
X:135794954:GAT:G	acceptor_gain	0.9900
X:135794954:GATG:G	acceptor_gain	0.9900
X:135794954:GATGT:G	acceptor_gain	0.9900
X:135794955:A:AG	acceptor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1160326636 (X:135798230 G>A), RS1162495330 (X:135797175 T>C), RS1164063770 (X:135797435 C>A), RS1167466060 (X:135797482 T>A), RS1167792028 (X:135803146 C>A,T), RS1170442447 (X:135803173 G>A), RS1171797734 (X:135797631 A>G), RS1174753406 (X:135797640 G>T), RS1182480199 (X:135797651 G>A), RS1184222867 (X:135798771 T>C), RS1188832379 (X:135797386 C>G,T), RS1191535195 (X:135803477 G>A), RS1192222600 (X:135797446 G>A), RS1192317667 (X:135797494 A>G), RS1192522630 (X:135797441 C>G,T)

Disease associations

OMIM: gene MIM:300797 | 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	increases methylation	1
Cadmium	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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