CT47B1

Summary

CT47B1 (cancer/testis antigen family 47 member B1, HGNC:33293) is a protein-coding gene on chromosome Xq24, encoding Cancer/testis antigen family 47 member B1 (P0C2W7).

At a glance

• Clinical variants (ClinVar): 111 total
• MANE Select transcript: NM_001145718

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33293
Approved symbol	CT47B1
Name	cancer/testis antigen family 47 member B1
Location	Xq24
Locus type	gene with protein product
Status	Approved
Aliases	CT47.13
Ensembl gene	ENSG00000236446
Ensembl biotype	protein_coding
OMIM	300790
Entrez	643311

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000371311

RefSeq mRNA: 1 — MANE Select: NM_001145718 NM_001145718

CCDS: CCDS48161

Canonical transcript exons

ENST00000371311 — 3 exons

Exon	Start	End
ENSE00001454921	120874896	120875866
ENSE00001637225	120873865	120874020
ENSE00001709036	120872607	120872740

Expression profiles

Bgee: expression breadth tissue_specific, 7 present calls, max score 86.21.

Top tissues by expression

133 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	86.21	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.62	gold quality
right testis	UBERON:0004534	72.78	gold quality
left testis	UBERON:0004533	70.86	gold quality
testis	UBERON:0000473	70.66	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
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
liver	UBERON:0002107	29.86	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
duodenum	UBERON:0002114	28.14	gold quality
urinary bladder	UBERON:0001255	28.04	gold quality
lymph node	UBERON:0000029	27.57	gold quality
leukocyte	CL:0000738	27.54	gold quality
monocyte	CL:0000576	27.53	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.93	gold quality
blood	UBERON:0000178	26.46	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
uterine cervix	UBERON:0000002	25.84	gold quality
placenta	UBERON:0001987	25.81	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.34

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting CT47B1, 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-570-3P	99.96	72.41	4910
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-4782-5P	98.35	69.33	1474
HSA-MIR-5706	98.35	69.33	1463
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), CT47A12 (ENSG00000226685), CT47A11 (ENSG00000226929), CT47A7 (ENSG00000228517), CT47A8 (ENSG00000230347), CT47A4 (ENSG00000230594), CT47A3 (ENSG00000236126), CT47A1 (ENSG00000236371), CT47A5 (ENSG00000237957), CT47A2 (ENSG00000242362), CT47C1 (ENSG00000277535)

Protein

Protein identifiers

Cancer/testis antigen family 47 member B1 — P0C2W7 (reviewed: P0C2W7)

Alternative names: Cancer/testis antigen 47.13

All UniProt accessions (1): P0C2W7

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the CT47 family.

RefSeq proteins (1): NP_001139190* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028930	CT47	Family

Pfam: PF15623

UniProt features (13 total): compositionally biased region 8, region of interest 2, chain 1, sequence variant 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0C2W7-F1	52.03	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 3 (showing top): chrXq24, MIR12123, MIR6839_5P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

36 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CT47B1	GPHRA	B7ZAQ6	766
CT47B1	CCNQ	Q8N1B3	571
CT47B1	BRAT1	Q6PJG6	514
CT47B1	TXLNG	Q9NUQ3	507
CT47B1	UTP14A	Q9BVJ6	474
CT47B1	SLFNL1	Q499Z3	471
CT47B1	OR8K3	Q8NH51	400
CT47B1	KRTAP4-5	Q9BYR2	394
CT47B1	ALMS1	Q8TCU4	370
CT47B1	ANXA11	P50995	369
CT47B1	MFRP	Q9BY79	307
CT47B1	ZNF236	Q9UL36	300
CT47B1	PNCK	Q6P2M8	279
CT47B1	GPLD1	P80108	215
CT47B1	FAT2	Q9NYQ8	205

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: A0A0U1RQG5, P0C2W7, Q5JQC4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	101
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

379 predictions. Top by Δscore:

Variant	Effect	Δscore
X:120874894:AC:A	donor_gain	1.0000
X:120874895:CC:C	donor_gain	1.0000
X:120874913:T:TA	donor_gain	1.0000
X:120874018:CTT:C	acceptor_gain	0.9900
X:120874021:C:CC	acceptor_gain	0.9900
X:120874022:T:C	acceptor_gain	0.9900
X:120874023:T:C	acceptor_gain	0.9900
X:120874023:T:TC	acceptor_gain	0.9900
X:120874890:CCTTA:C	donor_loss	0.9900
X:120874891:CTTAC:C	donor_loss	0.9900
X:120874892:TTACC:T	donor_loss	0.9900
X:120874893:TAC:T	donor_loss	0.9900
X:120874894:A:AC	donor_gain	0.9900
X:120874894:ACC:A	donor_gain	0.9900
X:120874894:ACCC:A	donor_loss	0.9900
X:120874895:C:CT	donor_gain	0.9900
X:120874895:CCC:C	donor_gain	0.9900
X:120874895:CCCT:C	donor_gain	0.9900
X:120872737:GCATC:G	acceptor_loss	0.9800
X:120872739:ATC:A	acceptor_loss	0.9800
X:120872741:CTG:C	acceptor_loss	0.9800
X:120872742:T:A	acceptor_loss	0.9800
X:120874016:GACTT:G	acceptor_gain	0.9800
X:120874894:ACCCT:A	donor_gain	0.9800
X:120874895:CCCTC:C	donor_gain	0.9800
X:120874928:T:TA	donor_gain	0.9800
X:120874052:C:CT	acceptor_gain	0.9700
X:120874910:G:GA	donor_gain	0.9700
X:120874044:A:C	acceptor_gain	0.9600
X:120874019:TT:T	acceptor_gain	0.9500

AlphaMissense

1938 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:120875249:A:G	I141T	0.887
X:120875279:A:G	L131P	0.881
X:120875305:G:C	F122L	0.870
X:120875305:G:T	F122L	0.870
X:120875307:A:G	F122L	0.870
X:120873992:C:A	W268C	0.839
X:120873992:C:G	W268C	0.839
X:120875255:T:A	D139V	0.820
X:120875257:G:C	N138K	0.817
X:120875257:G:T	N138K	0.817
X:120875288:A:T	V128D	0.808
X:120875249:A:C	I141S	0.805
X:120875258:T:A	N138I	0.795
X:120875328:A:C	Y115D	0.788
X:120875276:A:G	L132P	0.786
X:120875614:G:C	S19R	0.780
X:120875614:G:T	S19R	0.780
X:120875616:T:G	S19R	0.780
X:120873994:A:G	W268R	0.772
X:120873994:A:T	W268R	0.772
X:120875666:G:C	S2C	0.763
X:120875291:A:G	L127P	0.746
X:120875666:G:A	S2F	0.743
X:120875249:A:T	I141N	0.741
X:120875267:A:G	L135P	0.734
X:120875251:G:C	H140Q	0.729
X:120875251:G:T	H140Q	0.729
X:120875666:G:T	S2Y	0.728
X:120875102:A:G	I190T	0.726
X:120875276:A:T	L132H	0.710

dbSNP variants (sampled 300 via entrez): RS1000436269 (X:120874922 G>A), RS1000739377 (X:120956505 G>C), RS1006254228 (X:120874466 T>C), RS1006623215 (X:120875170 G>C), RS1006697106 (X:120874226 G>A), RS1010202154 (X:120875634 C>A,T), RS1011857454 (X:120872141 A>C), RS1016386781 (X:120874241 CT>C,CTT), RS1019582688 (X:120872595 C>T), RS1020314781 (X:120875636 C>A,G), RS1023252034 (X:120874600 C>A,G,T), RS1028972047 (X:120874061 A>C), RS1029002985 (X:120872805 A>G), RS1029304617 (X:120875145 C>A,T), RS1030996049 (X:120872269 G>C)

Disease associations

OMIM: gene MIM:300790 | 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
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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