MAGEC2

Summary

MAGEC2 (MAGE family member C2, HGNC:13574) is a protein-coding gene on chromosome Xq27.2, encoding Melanoma-associated antigen C2 (Q9UBF1). Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases.

This gene is a member of the MAGEC gene family. It is not expressed in normal tissues, except for testis, and is expressed in tumors of various histological types. This gene and the other MAGEC genes are clustered on chromosome Xq26-q27.

Source: NCBI Gene 51438 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 43 total
• MANE Select transcript: NM_016249

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13574
Approved symbol	MAGEC2
Name	MAGE family member C2
Location	Xq27.2
Locus type	gene with protein product
Status	Approved
Aliases	CT10, MAGE-C2, HCA587
Ensembl gene	ENSG00000046774
Ensembl biotype	protein_coding
OMIM	300468
Entrez	51438

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000247452

RefSeq mRNA: 1 — MANE Select: NM_016249 NM_016249

CCDS: CCDS14678

Canonical transcript exons

ENST00000247452 — 3 exons

Exon	Start	End
ENSE00000869404	142202342	142204053
ENSE00001093704	142205103	142205290
ENSE00001729495	142204362	142204455

Expression profiles

Bgee: expression breadth broad, 28 present calls, max score 91.14.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.1375 / max 147.8939, expressed in 156 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
200750	1.9740	154
200749	0.1635	104

Top tissues by expression

274 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	91.14	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.99	gold quality
right testis	UBERON:0004534	85.57	gold quality
left testis	UBERON:0004533	83.70	gold quality
testis	UBERON:0000473	83.16	gold quality
tibialis anterior	UBERON:0001385	56.93	silver quality
adult organism	UBERON:0007023	56.50	silver quality
male germ cell	CL:0000015	51.41	gold quality
mucosa of urinary bladder	UBERON:0001259	50.83	gold quality
sperm	CL:0000019	50.68	gold quality
pancreatic ductal cell	CL:0002079	50.00	silver quality
Brodmann (1909) area 46	UBERON:0006483	49.98	gold quality
quadriceps femoris	UBERON:0001377	49.49	gold quality
epithelial cell of pancreas	CL:0000083	49.46	gold quality
deltoid	UBERON:0001476	49.46	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
hair follicle	UBERON:0002073	49.18	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
choroid plexus epithelium	UBERON:0003911	48.89	gold quality
myocardium	UBERON:0002349	48.87	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
CA1 field of hippocampus	UBERON:0003881	48.50	gold quality
vastus lateralis	UBERON:0001379	48.25	gold quality
left ventricle myocardium	UBERON:0006566	48.24	gold quality
orbitofrontal cortex	UBERON:0004167	48.20	gold quality
thymus	UBERON:0002370	48.07	gold quality
upper arm skin	UBERON:0004263	48.06	gold quality
cervix epithelium	UBERON:0004801	48.04	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-134144	yes	28.19
E-ANND-3	no	1.64

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

28 targeting MAGEC2, 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-5011-5P	100.00	83.46	5820
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-1276	99.36	68.18	1642
HSA-MIR-488-5P	99.28	68.12	821
HSA-MIR-8077	99.17	66.67	862
HSA-MIR-4999-3P	99.11	65.55	424
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-6830-5P	99.01	68.73	1884
HSA-MIR-10A-5P	98.89	69.85	712
HSA-MIR-10B-5P	98.89	69.86	711
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-676-5P	98.49	68.87	1492
HSA-MIR-4684-5P	98.29	67.99	1650

Literature-anchored findings (GeneRIF, showing 31)

• HCA 587 may be a valuable target antigen for diagnosis and vaccination of hepatocelular carcinoma patients. (PMID:12920247)
• identified 2 antigens encoded by gene MAGE-C2 which are recognized by several melanoma-specific cytolytic T lymphocyte clones isolated from a melanoma patient; both antigens are presented by HLA-A2 (PMID:14999777)
• CT10 expression was more frequently found in squamous cell carcinoma than in adenocarcinoma. (PMID:15061963)
• because of the expression pattern of gene MAGE-C2, this new antigen is strictly tumor-specific (PMID:17096150)
• the MAGE-A3 and MAGE-C2 gene promoter regions are de-methylated in the presence of activated KIT but become methylated on inhibition of KIT, consistent with the downregulation of mRNA and protein (PMID:17495964)
• MAGE-C2/CT-10 is expressed in hepatocellular carcinoma (PMID:18942708)
• a content of >/=50% MAGE-C1/CT7 expressing myeloma cells in a sample was associated with reduced overall survival (p=0.013). (PMID:20621094)
• p43-57 is the first HCA587-derived major histocompatibility complex class II-restricted epitope to fulfil all prerequisites for use as a peptide vaccine in patients with HCA587-expressing tumors (PMID:21595801)
• Results suggest that the expression of MAGE-C1/CT7 and MAGE-C2/CT10 in primary melanoma is a potent predictor of sentinel lymph node metastasis. (PMID:21738656)
• MAGE-C2/CT10 expression in prostate cancer correlates with the degree of malignancy and indicates a higher risk for biochemical recurrence after radical prostatectomy. (PMID:21754986)
• MAGEC2 is a sensitive and novel marker for seminoma. (PMID:21780320)
• Expression of MAGE I proteins, MAGE-A3 or MAGE-C2, relieved repression of a reporter gene by ZNF382 and MAGE I expression relieved KAP1 mediated ID1 repression. (PMID:21876767)
• Cytotoxic T cell clones directed against MAGE-C2 peptides recognize EB81-melanoma tumor cells treated with interferon (IotaFN)-gamma. (PMID:22925930)
• MAGE-C2 promotes growth and tumorigenicity of melanoma cells, phosphorylation of KAP1, and DNA damage repair. (PMID:23096706)
• the present study confirmed MAGE-C1/CT7 and MAGE-C2/CT7 expression in monoclonal gammopathies (PMID:23180015)
• Our results indicate that MAGEC2 has a role in breast cancer metastasis through inducing epithelial-mesenchymal transition (PMID:24687377)
• In gastrointestinal stromal tumors, 5/51 (10%) patients expressed MAGE-C2. High-grade GIST are more likely to express MAGE-C2. MAGE-C2 also significantly correlates with mitotic rate and tumor size. (PMID:24713551)
• MAGE-C1 and MAGE-C2 are expressed in myeloma, but the chromosome aberrations do not always correlate with expression (PMID:24820892)
• overexpression of HCA587 resulted in a significant enhancement of LMP1-induced IL-6 production. These data indicate that HCA587 is a new negative regulator of BS69 (PMID:24866244)
• expression of CT7 and CT10 throughout the different subtypes of mucosal melanoma and tumor development. (PMID:26161400)
• MAGE-C1 and MAGE-C2 expressions were positively associated with high tumor grade and reduced recurrence-free survival in breast cancer. (PMID:26321295)
• Data show that melanoma antigen, family C, 2 protein (MAGE-C2) binds with RING-box protein 1 (Rbx1) and Cullin 1, and regulates cyclin E stability in melanoma cells. (PMID:26540345)
• The expressions of MAGE-C2 mRNA and MAGE-C2 protein were closely associated with stage, metastasis of lung cancer. (PMID:26903162)
• our study provides a suitable cell model for exploring the biological functions of MAGEC2 in malignant cells, and sheds light on the molecular pathway by which MAGEC2 promotes tumor development. (PMID:27636589)
• our findings revealed a previously unrecognized regulation of STAT3 activation in tumor cells by cancer/testis antigen MAGEC2, and provided a molecular mechanism for the oncogenic activity of MAGEC2 in cancer cells. (PMID:27775077)
• High MAGE-C2 expression was found in 38.18% of triple negative breast cancer tissues and in 9.09% of adjacent tissues. High MAGE-C2 expression in TNBC patients was closely associated with tumor node metastasis and shorter survival time. (PMID:27843173)
• HCA587/MAGEC2 directly binds TAF9 via its CR domain, suggesting that HCA587/MAGEC2 may involve in TAF9 binding with DNA to regulate certain genes transcription. (PMID:29257297)
• Results show that endogenous MAGEC2 interacts with TRIM28 in melanoma cells and that its expression depends on the existence of TRIM28 protein in many types of neoplasm. (PMID:30309319)
• CT10 and PRAME are expressed in a subset of HGUC and CTA and MHC I expression correlate with a number of important immune parameters (PMID:31485721)
• MageC2 protein is upregulated by oncogenic activation of MAPK pathway and causes impairment of the p53 transactivation function. (PMID:33279609)
• Identification of MAGEC2/CT10 as a High Calcium-Inducible Gene in Triple-Negative Breast Cancer. (PMID:35355564)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ndnl2	ENSDARG00000058212
mus_musculus	Magea13	ENSMUSG00000046180
rattus_norvegicus	Magea13	ENSRNOG00000003532
drosophila_melanogaster	MAGE	FBGN0037481

Paralogs (37): TRO (ENSG00000067445), MAGEB2 (ENSG00000099399), MAGED2 (ENSG00000102316), MAGEB4 (ENSG00000120289), MAGEA9 (ENSG00000123584), MAGEA10 (ENSG00000124260), MAGEA4 (ENSG00000147381), MAGED4 (ENSG00000154545), MAGEC1 (ENSG00000155495), MAGEA8 (ENSG00000156009), MAGEC3 (ENSG00000165509), MAGEB6 (ENSG00000176746), MAGEB18 (ENSG00000176774), MAGEF1 (ENSG00000177383), MAGEB10 (ENSG00000177689), MAGED1 (ENSG00000179222), NDN (ENSG00000182636), MAGEB17 (ENSG00000182798), MAGEA2B (ENSG00000183305), NSMCE3 (ENSG00000185115), MAGEA11 (ENSG00000185247), MAGEE2 (ENSG00000186675), MAGED4B (ENSG00000187243), MAGEH1 (ENSG00000187601), MAGEB5 (ENSG00000188408), MAGEB16 (ENSG00000189023), MAGEA6 (ENSG00000197172), MAGEA1 (ENSG00000198681), MAGEB3 (ENSG00000198798), MAGEE1 (ENSG00000198934), MAGEA12 (ENSG00000213401), MAGEB1 (ENSG00000214107), MAGEA3 (ENSG00000221867), MAGEB6B (ENSG00000232030), MAGEL2 (ENSG00000254585), MAGEA9B (ENSG00000267978), MAGEA2 (ENSG00000268606)

Protein

Protein identifiers

Melanoma-associated antigen C2 — Q9UBF1 (reviewed: Q9UBF1)

Alternative names: Cancer/testis antigen 10, Hepatocellular carcinoma-associated antigen 587, MAGE-C2 antigen, MAGE-E1 antigen

All UniProt accessions (1): Q9UBF1

UniProt curated annotations — full annotation on UniProt →

Function. Proposed to enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. In vitro enhances ubiquitin ligase activity of TRIM28 and stimulates p53/TP53 ubiquitination in presence of Ubl-conjugating enzyme UBE2H leading to p53/TP53 degradation. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzymes (E2) at the E3:substrate complex.

Subunit / interactions. Interacts with TRIM28 and UBE2H.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Not expressed in normal tissues, except in germ cells in the seminiferous tubules and in Purkinje cells of the cerebellum. Expressed in various tumors, including melanoma, lymphoma, as well as pancreatic cancer, mammary gland cancer, non-small cell lung cancer and liver cancer. In hepatocellular carcinoma, there is an inverse correlation between tumor differentiation and protein expression, i.e. the lower the differentiation, the higher percentage of expression.

RefSeq proteins (1): NP_057333* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002190	MHD_dom	Domain
IPR037445	MAGE	Family
IPR041898	MAGE_WH1	Homologous_superfamily
IPR041899	MAGE_WH2	Homologous_superfamily

Pfam: PF01454

UniProt features (11 total): sequence conflict 3, region of interest 2, compositionally biased region 2, chain 1, domain 1, sequence variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UBF1-F1	66.43	0.23

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (1):

Position	Phenotype
152–153	decreases interaction with trim28, abolishes in vitro ubiquitination of tp53.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 130 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, ROZANOV_MMP14_TARGETS_UP, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOCC_NEURON_PROJECTION, HAMAI_APOPTOSIS_VIA_TRAIL_DN, GOBP_PROTEIN_CATABOLIC_PROCESS, PARENT_MTOR_SIGNALING_UP, GOCC_POSTSYNAPSE, GOCC_SYNAPSE, GOCC_POSTSYNAPTIC_MEMBRANE

GO Biological Process (3): negative regulation of transcription by RNA polymerase II (GO:0000122), protein catabolic process (GO:0030163), positive regulation of ubiquitin-protein transferase activity (GO:0051443)

GO Molecular Function (2): ubiquitin protein ligase binding (GO:0031625), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
macromolecule catabolic process	1
protein metabolic process	1
ubiquitin-protein transferase activity	1
positive regulation of protein ubiquitination	1
positive regulation of catalytic activity	1
regulation of ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

768 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAGEC2	TRIM28	Q13263	957
MAGEC2	RBX1	P62877	810
MAGEC2	SAGE1	Q9NXZ1	773
MAGEC2	CRK	P46108	729
MAGEC2	SPA17	Q15506	720
MAGEC2	CRKL	P46109	697
MAGEC2	CTAG1A	P78358	663
MAGEC2	PRSS50	Q9UI38	625
MAGEC2	PAGE5	Q96GU1	621
MAGEC2	DTNA	Q9Y4J8	595
MAGEC2	CT45A1	Q5HYN5	584
MAGEC2	CTAG2	O75638	567
MAGEC2	SSX4	O60224	542
MAGEC2	BCAR1	P56945	542
MAGEC2	ADAM2	P78326	507
MAGEC2	LIPI	Q6XZB0	507

IntAct

47 interactions, top by confidence:

A	B	Type	Score
MAGEC2	TRIM28	psi-mi:“MI:0915”(physical association)	0.790
TRIM28	MAGEC2	psi-mi:“MI:0915”(physical association)	0.790
TRIM28	MAGEC2	psi-mi:“MI:0403”(colocalization)	0.790
TRIM28	MAGEC2	psi-mi:“MI:0407”(direct interaction)	0.790
P4HA3	MAGEC2	psi-mi:“MI:0915”(physical association)	0.670
MAGEC2	P4HA3	psi-mi:“MI:0915”(physical association)	0.670
MAGEC2	TP53	psi-mi:“MI:0914”(association)	0.590
TP53	MAGEC2	psi-mi:“MI:0915”(physical association)	0.590
UBE2H	MAGEC2	psi-mi:“MI:0915”(physical association)	0.580
MAGEC2	UBE2H	psi-mi:“MI:0915”(physical association)	0.580
MAGEC2	SSX1	psi-mi:“MI:0915”(physical association)	0.560
MAGEC2	SSX2	psi-mi:“MI:0915”(physical association)	0.560
MAGEC2	PBX3	psi-mi:“MI:0915”(physical association)	0.560
SSX1	MAGEC2	psi-mi:“MI:0915”(physical association)	0.560
MAGEC2	GLE1	psi-mi:“MI:0915”(physical association)	0.560
TSC1	MAGEC2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (59): MAGEC2 (Two-hybrid), MAGEC2 (Two-hybrid), MAGEC2 (Two-hybrid), P4HA3 (Two-hybrid), PCGF6 (Two-hybrid), RNF166 (Two-hybrid), TRIM8 (Two-hybrid), MAGEC2 (Affinity Capture-Western), RBX1 (Affinity Capture-Western), MAGEC2 (Affinity Capture-Western), MAGEC2 (Affinity Capture-Western), MAGEC2 (Reconstituted Complex), MAGEC2 (Co-localization), MAGEC2 (Co-localization), MAGEC2 (Affinity Capture-Western)

ESM2 similar proteins: A0A0J9YX57, A1A5P9, A2A368, A2A9R3, A8MXT2, B2KFW1, O15479, O15480, O15481, O15553, P0C6Y7, P10073, P17040, P25233, P43355, P43356, P43357, P43358, P43360, P43362, P43363, P43364, P43366, Q13342, Q16666, Q4R998, Q5PPP4, Q5RD14, Q6AY37, Q6PCZ4, Q8BQR7, Q8IWY8, Q8IX06, Q8N660, Q8N7X4, Q8TD90, Q96DU7, Q96LZ2, Q96M61, Q99608

Diamond homologs: A0A0J9YX57, A1A5P9, A2A368, A2A9R3, A6NCF6, A6QLI5, A8MXT2, O15479, O15480, O15481, O60732, P25233, P43355, P43356, P43357, P43358, P43360, P43361, P43362, P43363, P43364, P43365, P43366, Q12816, Q4R998, Q5PPP4, Q5RFC2, Q6AY37, Q6ITT4, Q6PCZ4, Q8BQR7, Q8N7X4, Q8TD90, Q8TD91, Q96JG8, Q96LZ2, Q96M61, Q96MG7, Q99608, Q9BE18

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MAGEC2	“up-regulates activity”	TRIM28	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	32
Likely benign	7
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

364 predictions. Top by Δscore:

Variant	Effect	Δscore
X:142204130:CAG:C	donor_gain	1.0000
X:142204357:CTCA:C	donor_loss	1.0000
X:142204358:TCA:T	donor_loss	1.0000
X:142204359:CACCT:C	donor_loss	1.0000
X:142204360:A:T	donor_loss	1.0000
X:142204361:C:G	donor_loss	1.0000
X:142204054:C:CC	acceptor_gain	0.9900
X:142204130:CAGCT:C	donor_gain	0.9900
X:142204453:CAC:C	acceptor_gain	0.9900
X:142204454:AC:A	acceptor_gain	0.9900
X:142204455:CC:C	acceptor_gain	0.9900
X:142204456:C:CA	acceptor_loss	0.9900
X:142204456:C:CC	acceptor_gain	0.9900
X:142204457:T:G	acceptor_loss	0.9900
X:142205098:CCTA:C	donor_loss	0.9900
X:142205099:CTAC:C	donor_loss	0.9900
X:142205102:CCAGT:C	donor_gain	0.9900
X:142204049:CAGGC:C	acceptor_gain	0.9800
X:142204051:GGC:G	acceptor_gain	0.9800
X:142204051:GGCC:G	acceptor_loss	0.9800
X:142204052:GCCTG:G	acceptor_loss	0.9800
X:142204053:CCTGT:C	acceptor_loss	0.9800
X:142204055:T:C	acceptor_loss	0.9800
X:142204056:G:C	acceptor_gain	0.9800
X:142204360:A:AC	donor_gain	0.9800
X:142204361:C:CC	donor_gain	0.9800
X:142204452:GCAC:G	acceptor_gain	0.9800
X:142204453:CACC:C	acceptor_gain	0.9800
X:142205096:GACCT:G	donor_loss	0.9800
X:142205097:ACCTA:A	donor_loss	0.9800

AlphaMissense

2461 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:142203283:A:C	S235R	0.972
X:142203283:A:T	S235R	0.972
X:142203285:T:G	S235R	0.972
X:142203092:A:G	F299S	0.959
X:142203037:A:C	F317L	0.955
X:142203037:A:T	F317L	0.955
X:142203039:A:G	F317L	0.955
X:142203091:G:C	F299L	0.952
X:142203091:G:T	F299L	0.952
X:142203093:A:G	F299L	0.952
X:142203409:A:C	F193L	0.948
X:142203409:A:T	F193L	0.948
X:142203411:A:G	F193L	0.948
X:142203435:C:G	A185P	0.938
X:142203001:A:C	F329L	0.929
X:142203001:A:T	F329L	0.929
X:142203003:A:G	F329L	0.929
X:142203087:A:G	W301R	0.928
X:142203087:A:T	W301R	0.928
X:142203446:A:T	I181K	0.924
X:142203545:A:G	L148S	0.923
X:142203128:C:G	R287P	0.920
X:142203535:G:C	F151L	0.918
X:142203535:G:T	F151L	0.918
X:142203537:A:G	F151L	0.918
X:142203533:A:G	L152P	0.911
X:142203156:A:G	W278R	0.905
X:142203156:A:T	W278R	0.905
X:142203084:C:G	G302R	0.901
X:142203196:G:C	H264Q	0.897

dbSNP variants (sampled 300 via entrez): RS1000306085 (X:142202055 G>A), RS1000863980 (X:142207130 C>T), RS1002398487 (X:142205371 A>C), RS1002448583 (X:142206250 G>A), RS1003402499 (X:142205212 T>C), RS1003752000 (X:142203623 T>G), RS1004119934 (X:142202622 T>C), RS1004531938 (X:142204933 A>C), RS1005258946 (X:142204168 C>G,T), RS1005343749 (X:142202802 C>A,T), RS1005533106 (X:142204625 G>A), RS1005853548 (X:142203178 A>G), RS1006675854 (X:142205971 C>T), RS1007558417 (X:142202138 T>A,G), RS1007620358 (X:142207063 G>T)

Disease associations

OMIM: gene MIM:300468 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001613_9	Antineutrophil cytoplasmic antibody-associated vasculitis	5.000000e-09
GCST003804_1	Non-response to bupropion and depression	2.000000e-17

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation	1
kojic acid	increases expression	1
Benzo(a)pyrene	affects methylation	1
Tetrachlorodibenzodioxin	increases expression	1
Vitallium	decreases expression	1
Aflatoxin B1	decreases methylation	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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