CTAG1B

Summary

CTAG1B (cancer/testis antigen 1B, HGNC:2491) is a protein-coding gene on chromosome Xq28, encoding Cancer/testis antigen 1 (P78358). In precision oncology, CTAG1B Expression confers sensitivity to Letetresgene Autoleucel in Myxoid Liposarcoma (CIViC Level B); 1 further curated variant–drug associations are listed below.

The protein encoded by this gene is an antigen that is overexpressed in many cancers but that is also expressed in normal testis. This gene is found in a duplicated region of the X-chromosome and therefore has a neighboring gene of identical sequence.

Source: NCBI Gene 1485 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 6 total — 3 pathogenic, 1 likely-pathogenic
• Druggable target: yes
• Precision-oncology evidence (CIViC): 2 curated variant–drug associations
• MANE Select transcript: NM_001327

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2491
Approved symbol	CTAG1B
Name	cancer/testis antigen 1B
Location	Xq28
Locus type	gene with protein product
Status	Approved
Aliases	NY-ESO-1, LAGE2B, LAGE2A, ESO1, CT6.1
Ensembl gene	ENSG00000184033
Ensembl biotype	protein_coding
OMIM	300156
Entrez	1485

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000328435, ENST00000359887

RefSeq mRNA: 1 — MANE Select: NM_001327 NM_001327

CCDS: CCDS14758

Canonical transcript exons

ENST00000328435 — 3 exons

Exon	Start	End
ENSE00001758669	154618139	154618273
ENSE00001800972	154617609	154617899
ENSE00001930282	154618950	154619282

Expression profiles

Bgee: expression breadth broad, 36 present calls, max score 88.61.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2913 / max 20.8486, expressed in 120 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
209887	0.2913	120

Top tissues by expression

89 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	88.61	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.62	gold quality
testis	UBERON:0000473	55.11	gold quality
left testis	UBERON:0004533	54.39	gold quality
right testis	UBERON:0004534	53.36	gold quality
stromal cell of endometrium	CL:0002255	51.38	silver quality
cortical plate	UBERON:0005343	40.62	silver quality
hindlimb stylopod muscle	UBERON:0004252	37.26	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ganglionic eminence	UBERON:0004023	37.14	gold quality
ectocervix	UBERON:0012249	36.98	silver quality
ventricular zone	UBERON:0003053	36.48	gold quality
sural nerve	UBERON:0015488	36.45	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
primary visual cortex	UBERON:0002436	35.83	silver quality
skeletal muscle tissue	UBERON:0001134	35.37	silver quality
thoracic mammary gland	UBERON:0005200	34.89	gold quality
left uterine tube	UBERON:0001303	34.86	silver quality
cerebellum	UBERON:0002037	34.61	silver quality
uterine cervix	UBERON:0000002	34.60	silver quality
right lung	UBERON:0002167	34.50	gold quality
cerebellar cortex	UBERON:0002129	34.48	silver quality
tibial artery	UBERON:0007610	34.48	gold quality
popliteal artery	UBERON:0002250	34.43	gold quality
bone marrow	UBERON:0002371	34.37	gold quality
cerebellar hemisphere	UBERON:0002245	34.27	silver quality
right uterine tube	UBERON:0001302	33.79	gold quality
Brodmann (1909) area 9	UBERON:0013540	33.29	silver quality
prefrontal cortex	UBERON:0000451	32.87	silver quality
endocervix	UBERON:0000458	32.36	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-9435	yes	611.10
E-CURD-53	no	126.92
E-ANND-3	no	0.04

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTCF, CTCFL, SP1

miRNA regulators (miRDB)

5 targeting CTAG1B, 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-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-6854-5P	96.77	65.96	848
HSA-MIR-1273C	95.96	65.86	66

Literature-anchored findings (GeneRIF, showing 40)

• NY-ESO-1 119-143 is a promiscuous major histocompatibility complex class II T-helper epitope recognized by Th1- and Th2-type tumor-reactive CD4+ T cells. (PMID:11782380)
• NY-ESO-1 is a marker that can be used to follow the early progression of testicular tumorigenesiswhen the tumors express a similar pattern to the cells of origin,although later tumors cease to express NY-ESO-1. (PMID:12065688)
• abilities of human monocyte-derived DCs and DCs derived in vitro from CD34-positive stem cells to present NY-ESO-1 epitopes to MHC class I-restricted cytotoxic T cells (PMID:12138174)
• strong MAGE-A4 expression and to a lesser degree NY-ESO-1 expression is characteristic of the vast majority of uterine carcinosarcomas and a major subset of papillary serous carcinomas (PMID:12209997)
• NY-ESO-1 gene is expressed highly in esophageal carcinoma (PMID:12452034)
• naturally occurring CD4+ T cell responses against NY-ESO-1 in cancer patients: correlation with antibody responses (PMID:12853579)
• NY-ESO-1 mRNA expression, specific antibodies and CD8 T cell responses in advanced prostate cancer. (PMID:12889868)
• NY-ESO-1 was highly expressed in dendritic cells with a bicistronic retroviral vector. (PMID:14503968)
• Data showed aberrant expression of NY-ESO-1 and LAGE-1 by IHC/RT-PCR in a significant proportion of epithelial ovarian cancer patients. (PMID:14522938)
• NY-ESO-1-specific CD4(+) and CD8(+) T cells were also able to recognize NY-ESO-1 expressing neuroblastoma cells. (PMID:14583496)
• Higher rate of NY-ESO-1 expression was noted in breast cancer with high histological grade and negative hormone receptor status (PMID:15026363)
• results demonstrate that the NY-ESO-1 expression was frequently present in primary NSCLC, especially advanced cases with lymph node metastasis (PMID:15069548)
• NY-ESO-1 induces tumor-specific humoral and cellular immune responses in hepatocellular carcinoma (PMID:15240519)
• Data show that recombinant NY-ESO-1 protein with ISCOMATRIX adjuvant induces broad integrated antibody and CD4(+) and CD8(+) T cell responses in humans. (PMID:15252201)
• The high expression frequency of NY-ESO-1 mRNA and protein indicates NY-ESO-1 as a feasible vaccine target in esophageal cancer. (PMID:15475443)
• NY-ESO-1 spontaneously induces HLA-DP4-restricted CD4+ Th1 and Th2 responses in a significant proportion of patients with epithelial ovarian cancer. (PMID:15521719)
• NY-ESO-1 is frequently expressed in multiple myeloma with cytogenetic abnormality (PMID:15671442)
• Present, by immunocytochemistry, in normal prostate, prostatic hypertrophy and prostate cancer. (PMID:16114059)
• Data indicate that reciprocal binding of CTCF and BORIS to the NY-ESO-1 promoter mediates epigenetic regulation of this CT gene in lung cancer cells. (PMID:16140944)
• HLA-peptide presentation is directly visualized for the first time, demonstrating that NY-ESO-1/LAGE-1-positive tumor cells present 10-50 NY-ESO-1/LAGE-1(157-165) epitopes per cell. (PMID:16751374)
• NY-ESO-1 directly engages the innate immune system through calreticulin present on dendritic cells, macrophages, and monocytes. (PMID:16951317)
• found strong antibody responses against CT antigens preferentially in patients who had received allogeneic stem cell transplantation (PMID:17023585)
• This is the first report of direct interaction between two CT antigens (MAGE-C1 and NY-ESO-1) and may be pertinent in the light of the frequently coordinated expression of these proteins (PMID:17137291)
• MAGE-A1 and NY-ESO-1 are associated with highly proliferating germ cells, whereas GAGE proteins have a more general function in germ cells unrelated to any specific developmental stage (PMID:17208940)
• usefulness of NY-ESO-1 as a tool for tumor vaccine therapy in eliciting NY-ESO-1-specific helper T-cell responses, especially in Japanese cancer patients. (PMID:17488334)
• NY-ESO-1 is more frequently expressed in metastatic than in primary malignant melanoma and its expression is associated with thicker primary lesions and a higher frequency of metastatic disease, indicative of a worse prognosis. (PMID:17625806)
• immunization with NY-ESO-1 peptides leads to strong tumor-reactive CD8+ T-cell responses (PMID:17640060)
• NY-ESO-1 overexpression increases as the malignancy grade of the astrocytic tumors increases. (PMID:18396787)
• Autoantibodies to NY-ESO-1 were associated with increased tumor-infiltrating CD8+, CD4+ and FoxP3+ cells in ovarian cancer patients (PMID:18923710)
• Its expression is significantly associated with prognostic factors in poor outcome of the non-small cell lung cancer. (PMID:18982744)
• valproic acid enhances induction of NY-ESO-1 in synergy with DNA-methyltransferase inhibitors (PMID:19030781)
• NY-ESO-1/immune complexes induce cross-presentation of HLA-A2-negative and HLA-Cw3-restricted epitopes via a proteasome-dependent pathway. (PMID:19155470)
• We evaluated the correlations among the expression levels of NY-ESO-1, LAGE-1 and SSX-1 and clinical parameters in hepatocellular carcinoma (PMID:19212631)
• Tumor-induced NY-ESO-1-specific CD8-positive T cells detectable ex vivo in patients with advanced NY-ESO-1-expressing melanoma up-regulate PD-1 expression in contrast to CD8-positive T cells directed against other tumor antigens. (PMID:19380770)
• The identification of a DR52b-restricted epitope from ESO that is immunodominant in the context of vaccine-elicited immune responses is instrumental for the immunologic monitoring of vaccination trials targeting this important tumor antigen. (PMID:19531622)
• Postvaccine T-cell clones are shown to recognize and lyse NY-ESO-1 expressing tumor cell lines in vitro. (PMID:19728336)
• MAGE-A3/6 and NY-ESO-1 were expressed in 50.0% (66/132) and 18.2% (24/132) of non-small-cell lung carcinomas, respectively. (PMID:19795170)
• High NY-ESO-1 expression is associated with oral squamous cell carcinoma. (PMID:20044626)
• ESO 9V peptide isoform is more efficient in inducing conjugate formation and cytolytic granule polarization than the ESO 9L isoform. (PMID:20053942)
• tumor antigen NY-ESO-1 has a role in the immune responses to tumor and self-antigens (PMID:20368442)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000116344
mus_musculus	Ctag2	ENSMUSG00000031181
mus_musculus	Ctag2l2	ENSMUSG00000079532
mus_musculus	Ctag2l1	ENSMUSG00000079536
rattus_norvegicus	Ctag2	ENSRNOG00000012560
rattus_norvegicus	Ctag2l1	ENSRNOG00000060839
rattus_norvegicus	Ctag2l2	ENSRNOG00000061511
rattus_norvegicus	Ctag2l2	ENSRNOG00000066963
drosophila_melanogaster	Tcs6	FBGN0260224

Paralogs (3): CTAG2 (ENSG00000126890), LAGE3 (ENSG00000196976), CTAG1A (ENSG00000268651)

Protein

Protein identifiers

Cancer/testis antigen 1 — P78358 (reviewed: P78358)

Alternative names: Autoimmunogenic cancer/testis antigen NY-ESO-1, Cancer/testis antigen 6.1, L antigen family member 2

All UniProt accessions (1): P78358

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm.

Tissue specificity. Expressed in testis and ovary and in a wide variety of cancers. Detected in uterine myometrium. Expressed from 18 weeks until birth in human fetal testis. In the adult testis, is strongly expressed in spermatogonia and in primary spermatocytes, but not in post-meiotic cells or in testicular somatic cells (at protein level).

Similarity. Belongs to the CTAG/PCC1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P78358-1	1	yes
P78358-2	2

RefSeq proteins (1): NP_001318* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR015419	CTAG/Pcc1	Family

Pfam: PF09341

UniProt features (7 total): compositionally biased region 2, chain 1, region of interest 1, splice variant 1, helix 1, turn 1

Structure

Experimental structures (PDB)

23 structures.

PDB	Method	Resolution (Å)
6AT5	X-RAY DIFFRACTION	1.5
3KLA	X-RAY DIFFRACTION	1.65
2BNQ	X-RAY DIFFRACTION	1.7
2P5E	X-RAY DIFFRACTION	1.89
2BNR	X-RAY DIFFRACTION	1.9
3GJF	X-RAY DIFFRACTION	1.9
6AVF	X-RAY DIFFRACTION	2.03
9MIN	X-RAY DIFFRACTION	2.05
2F53	X-RAY DIFFRACTION	2.1
1S9W	X-RAY DIFFRACTION	2.2
2P5W	X-RAY DIFFRACTION	2.2
2PYE	X-RAY DIFFRACTION	2.3
9DL1	X-RAY DIFFRACTION	2.3
6RPB	X-RAY DIFFRACTION	2.5
6RPA	X-RAY DIFFRACTION	2.56
6AVG	X-RAY DIFFRACTION	2.6
2F54	X-RAY DIFFRACTION	2.7
3HAE	X-RAY DIFFRACTION	2.9
9FE1	ELECTRON MICROSCOPY	3.1
6RP9	X-RAY DIFFRACTION	3.12
9HKQ	ELECTRON MICROSCOPY	3.3
9C3E	ELECTRON MICROSCOPY	3.5
9NNF	ELECTRON MICROSCOPY	3.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P78358-F1	67.38	0.15

Antibody-complex structures (SAbDab): 3 — 3GJF, 3HAE, 9HKQ

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 26 (showing top): GRUETZMANN_PANCREATIC_CANCER_DN, GOBP_TRNA_METABOLIC_PROCESS, MISSIAGLIA_REGULATED_BY_METHYLATION_UP, NAKAYAMA_SOFT_TISSUE_TUMORS_PCA2_DN, GOBP_TRNA_THREONYLCARBAMOYLADENOSINE_METABOLIC_PROCESS, MODULE_20, MODULE_104, NAKAYAMA_SOFT_TISSUE_TUMORS_PCA1_DN, LIANG_SILENCED_BY_METHYLATION_2, MODULE_7, MODULE_181, YAGI_AML_WITH_T_8_21_TRANSLOCATION, MODULE_49, chrXq28, MODULE_41

GO Biological Process (1): tRNA threonylcarbamoyladenosine metabolic process (GO:0070525)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
tRNA metabolic process	1
protein binding	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1006 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CTAG1B	MAGEA3	P43357	960
CTAG1B	MAGEA4	P43358	925
CTAG1B	MAGEA1	P43355	872
CTAG1B	TYR	P14679	861
CTAG1B	HLA-A	P01891	857
CTAG1B	PMEL	P40967	857
CTAG1B	LY75	O60449	853
CTAG1B	CAGE1	Q8TC20	840
CTAG1B	CCDC73	Q6ZRK6	829
CTAG1B	MAGEA2B	P43356	812
CTAG1B	CD4	P01730	787
CTAG1B	MAGEA6	P43360	786
CTAG1B	MAGEC1	O60732	767
CTAG1B	TPTE	P56180	732
CTAG1B	CD8A	P01732	728
CTAG1B	PRAME	P78395	728

IntAct

273 interactions, top by confidence:

A	B	Type	Score
CTAG1A	UBQLN1	psi-mi:“MI:0915”(physical association)	0.720
UBQLN1	CTAG1A	psi-mi:“MI:0915”(physical association)	0.720
CTAG1A	UBQLN1	psi-mi:“MI:0915”(physical association)	0.560
UBQLN1	CTAG1A	psi-mi:“MI:0915”(physical association)	0.560
CTAG1A	HMG20A	psi-mi:“MI:0915”(physical association)	0.560
CTAG1A	DDIT4L	psi-mi:“MI:0915”(physical association)	0.560
CTAG1A	BORCS8	psi-mi:“MI:0915”(physical association)	0.560
CTAG1A	CDKN2AIPNL	psi-mi:“MI:0915”(physical association)	0.560
CTAG1A	LONRF3	psi-mi:“MI:0915”(physical association)	0.560
CTAG1A	SIKE1	psi-mi:“MI:0915”(physical association)	0.560
FCHSD2	CTAG1A	psi-mi:“MI:0915”(physical association)	0.560
CTAG1A	NAB2	psi-mi:“MI:0915”(physical association)	0.560
CTAG1A	GNG13	psi-mi:“MI:0915”(physical association)	0.560
GATC	CTAG1A	psi-mi:“MI:0915”(physical association)	0.560
CTAG1A	SGTB	psi-mi:“MI:0915”(physical association)	0.560
CTAG1A	SMG9	psi-mi:“MI:0915”(physical association)	0.560
CTAG1A	LAMTOR1	psi-mi:“MI:0915”(physical association)	0.560
BAG6	CTAG1A	psi-mi:“MI:0915”(physical association)	0.560
CTAG1A	BEX1	psi-mi:“MI:0915”(physical association)	0.560
CTAG1A	UBE2V1	psi-mi:“MI:0915”(physical association)	0.560
ALOX15B	CTAG1A	psi-mi:“MI:0915”(physical association)	0.560
CTAG1A	SOHLH1	psi-mi:“MI:0915”(physical association)	0.560
CTAG1A	RTN4IP1	psi-mi:“MI:0915”(physical association)	0.560
GTF2I	CTAG1A	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (191): UBQLN1 (Two-hybrid), CTAG1B (Two-hybrid), CTAG1A (Two-hybrid), CTAG1B (Two-hybrid), CTAG1A (Two-hybrid), CTAG1B (Two-hybrid), CTAG1A (Two-hybrid), CTAG1B (Two-hybrid), CTAG1A (Two-hybrid), CTAG1B (Two-hybrid), CTAG1A (Two-hybrid), CTAG1B (Two-hybrid), CTAG1A (Two-hybrid), CTAG1B (Two-hybrid), CTAG1A (Two-hybrid)

ESM2 similar proteins: A0A0J9YX94, A0A0J9YXQ4, A0A0J9YY54, A0A494C1R9, A5D7L8, A6NDY0, A6NKD2, A7E321, E9PGG2, F6SZT2, O14771, O19110, O75807, O88852, P0CV98, P0CV99, P0CW00, P0CW01, P0CW24, P17564, P78358, Q01534, Q0P5N2, Q15735, Q2KI51, Q2M329, Q587J8, Q5DTT8, Q5R5G8, Q5R6R8, Q5SV97, Q60465, Q62881, Q69ZB3, Q6P752, Q86V59, Q8BSI6, Q8IWY8, Q8N3D4, Q8VD63

Diamond homologs: O75638, P78358, Q14657, Q9CR70, Q10220

SIGNOR signaling

0 interactions.

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	1
Uncertain significance	2
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
2685025	GRCh37/hg19 Xq28(chrX:153613883-153862775)x3	Pathogenic
564938	GRCh37/hg19 Xq28(chrX:153581543-153858492)x2	Pathogenic
658992	NC_000023.10:g.(?152954020)(154096327_?)del	Pathogenic
148217	GRCh38/hg38 Xq28(chrX:154604412-154935279)x3	Likely pathogenic

SpliceAI

411 predictions. Top by Δscore:

Variant	Effect	Δscore
X:154618949:CAA:C	donor_gain	0.9900
X:154619114:T:A	donor_gain	0.9900
X:154618116:C:A	donor_gain	0.9800
X:154619135:C:CA	donor_gain	0.9800
X:154619162:T:TA	donor_gain	0.9800
X:154619192:C:CA	donor_gain	0.9800
X:154617906:G:C	acceptor_gain	0.9700
X:154618951:A:AC	donor_gain	0.9700
X:154618952:C:CC	donor_gain	0.9700
X:154618955:A:AC	donor_gain	0.9700
X:154618955:AAG:A	donor_gain	0.9700
X:154617900:C:CC	acceptor_gain	0.9600
X:154617904:A:AC	acceptor_gain	0.9600
X:154618137:A:AC	donor_gain	0.9600
X:154618138:C:CC	donor_gain	0.9600
X:154617897:CGG:C	acceptor_gain	0.9500
X:154618133:A:C	donor_gain	0.9500
X:154618142:G:C	donor_gain	0.9500
X:154618956:A:C	donor_gain	0.9500
X:154617904:A:C	acceptor_gain	0.9300
X:154617906:G:GC	acceptor_gain	0.9300
X:154618127:T:TA	donor_gain	0.9300
X:154618121:T:TA	donor_gain	0.9200
X:154617896:TCGG:T	acceptor_gain	0.8900
X:154617897:CGGC:C	acceptor_gain	0.8900
X:154618141:A:AC	donor_gain	0.8900
X:154618141:AGT:A	donor_gain	0.8900
X:154618968:T:A	donor_gain	0.8900
X:154619086:G:T	donor_gain	0.8900
X:154619101:TGGC:T	donor_gain	0.8900

AlphaMissense

1125 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:154618255:G:C	F96L	0.987
X:154618255:G:T	F96L	0.987
X:154618257:A:G	F96L	0.987
X:154618139:A:G	I135T	0.959
X:154618139:A:T	I135N	0.956
X:154618239:C:G	A102P	0.956
X:154618171:C:A	K124N	0.954
X:154618171:C:G	K124N	0.954
X:154617894:A:G	L137P	0.950
X:154618256:A:G	F96S	0.950
X:154618166:A:G	F126S	0.949
X:154617889:C:G	A139P	0.946
X:154618256:A:C	F96C	0.944
X:154617858:A:T	I149N	0.936
X:154617897:C:G	R136P	0.934
X:154618165:G:C	F126L	0.934
X:154618165:G:T	F126L	0.934
X:154618167:A:G	F126L	0.934
X:154617858:A:G	I149T	0.931
X:154617794:A:C	F170L	0.929
X:154617794:A:T	F170L	0.929
X:154617796:A:G	F170L	0.929
X:154617837:A:T	L156H	0.928
X:154618139:A:C	I135S	0.926
X:154618145:A:G	L133P	0.925
X:154618229:G:T	A105D	0.925
X:154617870:A:G	L145P	0.923
X:154618257:A:T	F96I	0.922
X:154617806:A:C	F166L	0.919
X:154617806:A:T	F166L	0.919

dbSNP variants (sampled 300 via entrez): RS1156444251 (X:154617466 A>G), RS1158082870 (X:154621085 C>CAGATCA), RS1160637014 (X:154621075 C>T), RS1160695412 (X:154620982 A>G), RS1162580222 (X:154621176 G>T), RS1165350781 (X:154617489 C>T), RS1170380413 (X:154620771 G>A,C), RS1171832648 (X:154620961 G>A), RS1171955485 (X:154617587 G>A), RS1172466892 (X:154617334 T>G), RS1173106678 (X:154617201 T>C), RS1175123025 (X:154617351 A>G), RS1176443941 (X:154620999 G>A), RS1177560583 (X:154618916 TCAGAACAGAA>T,TCAGAA), RS1179016906 (X:154620860 G>A)

Disease associations

OMIM: gene MIM:300156 | disease phenotypes: MIM:134500, MIM:306700, MIM:300100

GenCC curated gene-disease

Mondo (2): hemophilia A (MONDO:0010602), adrenoleukodystrophy (MONDO:0018544)

Orphanet (2): Hemophilia A (Orphanet:98878), X-linked adrenoleukodystrophy (Orphanet:43)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D000326	Adrenoleukodystrophy	C10.228.140.163.100.084; C10.228.140.163.100.362.250; C10.228.140.695.625.250; C10.314.400.250; C10.597.606.360.455.124; C16.320.322.500.124; C16.320.400.525.124; C16.320.565.189.084; C16.320.565.189.362.250; C16.320.565.663.100; C18.452.132.100.084; C18.452.132.100.362.250; C18.452.648.189.084; C18.452.648.189.362.250; C18.452.648.663.100; C19.053.500.270
D006467	Hemophilia A	C15.378.100.100.500; C15.378.100.141.500; C15.378.463.500; C16.320.099.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4804257 (SINGLE PROTEIN)

Clinical evidence (CIViC)

Drug × variant × indication: 2 predictive associations from 2 curated evidence items.

Variant	Therapy	Indication	Effect	Level	CIViC
CTAG1B Expression	Letetresgene Autoleucel	Myxoid Liposarcoma	Sensitivity/Response	CIViC B	EID12573
CTAG1B Overexpression	Letetresgene Autoleucel	Multiple Myeloma	Sensitivity/Response	CIViC B	EID2940

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

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Decitabine	increases reaction, affects expression, decreases methylation, increases expression	3
Valproic Acid	decreases methylation, increases reaction, increases expression, increases methylation	2
CGP 52608	affects binding, increases reaction	1
3-hydroxy-4-prenyl-5-methoxystilbene-2-carboxylic acid	decreases expression	1
Aripiprazole	increases expression, affects cotreatment	1
Ozone	affects cotreatment, increases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_C3D8	A375 NY-ESO-1 Knockout	Cancer cell line	Female
CVCL_C3D9	A375 NY-ESO-1 Low	Cancer cell line	Female
CVCL_C3DA	A375 NY-ESO-1 High	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00002386	PHASE4	COMPLETED	Effect of Indinavir Plus Two Other Anti-HIV Drugs on Blood Clotting in HIV-Positive Males With Hemophilia
NCT00092976	PHASE4	COMPLETED	Study Evaluating ReFacto® in Hemophilia A Undergoing Major Surgery
NCT00151385	PHASE4	WITHDRAWN	Study Evaluating Inhibitor Specificity in Hemophilia A
NCT00168051	PHASE4	WITHDRAWN	Study Comparing Blood Levels of ReFacto and Advante in Hemophilia A
NCT00243386	PHASE4	COMPLETED	Prophylaxis Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A
NCT00284193	PHASE4	COMPLETED	Combination Therapy of Low Doses of rFVIIa and FEIBA for Severe Hemophilia A Patients With an Inhibitor to Factor VIII
NCT00289536	PHASE4	COMPLETED	Dose-Response Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A
NCT00357656	PHASE4	COMPLETED	Phase 3/4 Study of a Recombinant Protein-Free Factor VIII (rAHF-PFM): Comparison of Continuous Infusion Versus Intermittent Bolus Infusion in Hemophilia A Subjects Undergoing Major Orthopedic Surgery
NCT00586521	PHASE4	COMPLETED	BAY14-2222 Prophylaxis and Joint Function Improvement (Adults)
NCT00621673	PHASE4	TERMINATED	Assessment of the Risk of Inhibitor Formation in Previously Treated Patients With Severe Hemophilia A
NCT00632814	PHASE4	COMPLETED	Russian Kogenate Pediatric Study
NCT00638001	PHASE4	COMPLETED	Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy
NCT00666406	PHASE4	COMPLETED	Pharmacokinetic Comparison of Advate rAHF-PFM With Recombinate rAHF in Patients With Severe Hemophilia A
NCT00765726	PHASE4	TERMINATED	Study Evaluating The Safety Of Xyntha In Usual Care Settings
NCT00884390	PHASE4	TERMINATED	Study Evaluating Safety Of Patients Switching To ReFacto AF In Usual Care Settings
NCT00914459	PHASE4	COMPLETED	Study Evaluating Safety And Efficacy Of Moroctocog Alfa (AF-CC) In Previously Treated Hemophilia A Patients
NCT00916032	PHASE4	COMPLETED	Pharmacokinetic Study of ADVATE 3000 IU in Previously Treated Patients With Severe Hemophilia A
NCT00927667	PHASE4	COMPLETED	Joint Status in Subjects With Severe Hemophilia A in Relation to Different Treatment Regimens
NCT00950170	PHASE4	COMPLETED	Study of Safety And Efficacy Of ReFacto AF In Previously Untreated Hemophilia A Patients In The Usual Care Setting
NCT01064284	PHASE4	COMPLETED	Survey of Inhibitors in Plasma-Product Exposed Toddlers
NCT01748201	PHASE4	COMPLETED	Viscosupplementation in Patients With Hemophilic Arthropathy
NCT01810666	PHASE4	COMPLETED	Prophylaxis Versus on Demand Treatment for Children With Hemophilia A
NCT01811875	PHASE4	TERMINATED	Post-Marketing Safety Study Following Long-Term Prophylactic OptivateTreatment in Subjects With Severe Haemophilia A
NCT02170402	PHASE4	COMPLETED	China ADVATE PTP Study
NCT02314325	PHASE4	UNKNOWN	Subclinical Joint Bleeding in Irish Adults With Severe Haemophilia A on Personalised Prophylaxis Regimens
NCT02479087	PHASE4	UNKNOWN	Safety/Efficacy Study to Assess Whether FVIII/VWF Concentrate Can Induce Immune Tolerance in Haemophilia A Patients
NCT02492984	PHASE4	COMPLETED	PF-05208756, Moroctocog Alfa (AF-CC), Xyntha For Hemophilia A
NCT02697370	PHASE4	COMPLETED	Efficacy and Cost Effectiveness of Pharmacokinetic Dosing in Haemophilia A
NCT02727647	PHASE4	COMPLETED	Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients
NCT03103542	PHASE4	COMPLETED	Study of rFVIIIFc for Immune Tolerance Induction (ITI) in Haemophilia A Patients With Inhibitors Who Have Failed Previous ITI Therapies
NCT03204539	PHASE4	TERMINATED	INdividualized ITI Based on Fviii(ATE) Protection by VWF
NCT03361137	PHASE4	TERMINATED	Study of Emicizumab Prophylaxis in Participants With Hemophilia A With or Without Inhibitors Undergoing Minor Surgical Procedures
NCT03379974	PHASE4	COMPLETED	Exercise Versus DDAVP in Patients With Mild Hemophilia A
NCT03449342	PHASE4	COMPLETED	Research Study to Look at Side Effects During Regular Injection With Factor VIII Medicine Named Turoctocog Alfa for a 8 Weeks Period
NCT03915080	PHASE4	COMPLETED	Optimizing the Use of Prophylaxis in Patients With Severe Haemophilia A
NCT03947567	PHASE4	UNKNOWN	Safety and Efficacy of Long-term Treatment With SCT800 in Previously Treated Hemophilia A Patients.
NCT04085458	PHASE4	COMPLETED	Study to Gain More Information on How Safe and Effective Jivi Works in Patients With Severe Hemophilia A (Post-marketing Investigation)
NCT04396639	PHASE4	COMPLETED	Moroctocog Alfa (AF-CC) for Prophylaxis and Treatment of Bleeding Episodes in Previously Treated Hemophilia A Patients
NCT04565236	PHASE4	COMPLETED	A Post Approval Commitment Study to Gain More Information on How Safe and Effective KOVALTRY is in Chinese Children, Adolescents /Adults With Severe Hemophilia A
NCT04621916	PHASE4	UNKNOWN	Preventing Inhibitor Recurrence Indefinitely