CT47A12

Summary

CT47A12 (cancer/testis antigen family 47 member A12, HGNC:33292) is a protein-coding gene on chromosome Xq24, encoding Cancer/testis antigen 47A (Q5JQC4).

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33292
Approved symbol	CT47A12
Name	cancer/testis antigen family 47 member A12
Location	Xq24
Locus type	gene with protein product
Status	Approved
Aliases	CT47.12
Ensembl gene	ENSG00000226685
Ensembl biotype	protein_coding
Entrez	100507170

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000419982

RefSeq mRNA: 1 — MANE Select: None NM_001242922

CCDS: CCDS56607

Canonical transcript exons

ENST00000419982 — 2 exons

Exon	Start	End
ENSE00003727917	120931301	120932301
ENSE00003742290	120930250	120930413

Expression profiles

Bgee: expression breadth broad, 46 present calls, max score 82.87.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.87	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.21	silver quality
sural nerve	UBERON:0015488	68.57	gold quality
right testis	UBERON:0004534	53.07	gold quality
testis	UBERON:0000473	49.97	gold quality
left testis	UBERON:0004533	49.56	gold quality
ectocervix	UBERON:0012249	40.16	gold quality
lower esophagus mucosa	UBERON:0035834	40.08	gold quality
stromal cell of endometrium	CL:0002255	39.64	gold quality
uterine cervix	UBERON:0000002	37.53	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
endocervix	UBERON:0000458	36.67	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
urinary bladder	UBERON:0001255	35.64	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
right lobe of liver	UBERON:0001114	33.60	gold quality
monocyte	CL:0000576	33.40	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
liver	UBERON:0002107	32.90	silver quality
leukocyte	CL:0000738	32.87	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
right ovary	UBERON:0002118	31.50	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
left adrenal gland cortex	UBERON:0035825	30.30	silver quality
right uterine tube	UBERON:0001302	29.49	gold quality
prefrontal cortex	UBERON:0000451	29.21	gold quality
muscle of leg	UBERON:0001383	28.59	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting CT47A12, 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-5696	99.98	72.36	4487
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-190A-5P	99.54	71.45	933
HSA-MIR-190B-5P	99.54	71.40	925
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-653-3P	98.31	67.71	1542
HSA-MIR-6773-3P	98.17	65.51	1213
HSA-MIR-6839-5P	96.74	68.29	1088
HSA-MIR-378J	96.44	66.20	1020
HSA-MIR-6760-3P	96.35	68.31	1001

Cross-species orthologs

0 orthologs

Paralogs (13): CT47A10 (ENSG00000224089), CT47A6 (ENSG00000226023), CT47A9 (ENSG00000226600), CT47A11 (ENSG00000226929), CT47A7 (ENSG00000228517), CT47A8 (ENSG00000230347), CT47A4 (ENSG00000230594), CT47A3 (ENSG00000236126), CT47A1 (ENSG00000236371), CT47B1 (ENSG00000236446), CT47A5 (ENSG00000237957), CT47A2 (ENSG00000242362), CT47C1 (ENSG00000277535)

Protein

Protein identifiers

Cancer/testis antigen 47A — Q5JQC4 (reviewed: Q5JQC4)

Alternative names: Cancer/testis antigen 47

All UniProt accessions (1): Q5JQC4

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Strongly expressed in testis, low expression in placenta, and very low expression in brain.

RefSeq proteins (1): NP_001229851 (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028930	CT47	Family

Pfam: PF15623

UniProt features (14 total): compositionally biased region 9, region of interest 2, chain 1, sequence conflict 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5JQC4-F1	53.93	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 4 (showing top): chrXq24, MIR5696, MIR12123, MIR664A_3P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

350 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CT47A12	GPHRA	B7ZAQ6	952
CT47A12	TAF11L5	A0A1W2PP81	654
CT47A12	TAF11L4	A0A1W2PPE2	654
CT47A12	TAF11L3	A0A1W2PRV1	654
CT47A12	TAF11L2	A6NLC8	620
CT47A12	CTAG2	O75638	616
CT47A12	CT45A1	Q5HYN5	602
CT47A12	MAGEA1	P43355	584
CT47A12	A0A1W2PRN6	A0A1W2PRN6	544
CT47A12	CT55	Q8WUE5	522
CT47A12	PRR20A	P86496	522
CT47A12	A0A1W2PQG5	A0A1W2PQG5	520
CT47A12	SPANXA1	Q9NS26	507
CT47A12	CSAG2	Q9Y5P2	507
CT47A12	USP17L23	D6RBM5	506

IntAct

3 interactions, top by confidence:

A	B	Type	Score
CSAG2	CAMK2D	psi-mi:“MI:0914”(association)	0.350
NXT2	MYO1G	psi-mi:“MI:0914”(association)	0.350

BioGRID (15): CT47A3 (Positive Genetic), CT47A2 (Positive Genetic), CT47A6 (Positive Genetic), CT47A5 (Positive Genetic), CT47A1 (Positive Genetic), CT47A7 (Positive Genetic), CT47A11 (Positive Genetic), CT47A4 (Positive Genetic), CT47A10 (Positive Genetic), CT47A12 (Positive Genetic), CT47A9 (Positive Genetic), CT47A8 (Positive Genetic), CT47A6 (Negative Genetic), CT47A3 (Negative Genetic), CT47A1 (Affinity Capture-MS)

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: A0A0U1RQG5, P0C2W7, Q5JQC4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

341 predictions. Top by Δscore:

Variant	Effect	Δscore
X:120930411:CTT:C	acceptor_gain	0.9900
X:120930416:T:C	acceptor_gain	0.9800
X:120930416:T:TC	acceptor_gain	0.9800
X:120930771:T:TG	acceptor_gain	0.9700
X:120931318:T:TA	donor_gain	0.9700
X:120930415:T:C	acceptor_gain	0.9600
X:120930414:C:CC	acceptor_gain	0.9400
X:120930772:C:G	acceptor_gain	0.9400
X:120931299:AC:A	donor_gain	0.9300
X:120931300:CC:C	donor_gain	0.9300
X:120931300:CCCT:C	donor_gain	0.9200
X:120930409:GACTT:G	acceptor_gain	0.9100
X:120930445:C:CT	acceptor_gain	0.8900
X:120932235:TCC:T	acceptor_gain	0.8900
X:120930437:A:C	acceptor_gain	0.8600
X:120932176:T:TC	acceptor_gain	0.8600
X:120931295:CCTTA:C	donor_loss	0.8400
X:120931296:CTTAC:C	donor_loss	0.8400
X:120931297:TTACC:T	donor_loss	0.8400
X:120931298:TA:T	donor_loss	0.8400
X:120931300:C:CA	donor_loss	0.8400
X:120931299:A:AC	donor_gain	0.8200
X:120931300:C:CC	donor_gain	0.8200
X:120932237:C:T	acceptor_gain	0.8100
X:120930747:T:C	acceptor_gain	0.8000
X:120930415:T:TC	acceptor_gain	0.7900
X:120930556:T:A	donor_gain	0.7800
X:120930413:TC:T	acceptor_loss	0.7700
X:120930414:C:A	acceptor_loss	0.7700
X:120932236:CCT:C	acceptor_gain	0.7700

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 8 via entrez): RS111897421 (X:120933526 C>A), RS1556343053 (X:120877684 G>A), RS1556343057 (X:120931428 G>C), RS1556343062 (X:120932298 T>C), RS1556343071 (X:120934016 C>T), RS2521584314 (X:120876992 T>A), RS2521584370 (X:120878833 T>C), RS6649627 (X:120932601 G>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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