MAGEA1

Summary

MAGEA1 (MAGE family member A1, HGNC:6796) is a protein-coding gene on chromosome Xq28, encoding Melanoma-associated antigen 1 (P43355). May be involved in transcriptional regulation through interaction with SNW1 and recruiting histone deactelyase HDAC1.

This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita.

Source: NCBI Gene 4100 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 38 total
• MANE Select transcript: NM_004988

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6796
Approved symbol	MAGEA1
Name	MAGE family member A1
Location	Xq28
Locus type	gene with protein product
Status	Approved
Aliases	MGC9326, CT1.1
Ensembl gene	ENSG00000198681
Ensembl biotype	protein_coding
OMIM	300016
Entrez	4100

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000356661

RefSeq mRNA: 1 — MANE Select: NM_004988 NM_004988

CCDS: CCDS76051

Canonical transcript exons

ENST00000356661 — 3 exons

Exon	Start	End
ENSE00001100275	153182177	153182249
ENSE00001452168	153182325	153183880
ENSE00001914855	153179284	153179365

Expression profiles

Bgee: expression breadth broad, 15 present calls, max score 86.04.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.4923 / max 129.4430, expressed in 126 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
198028	0.6694	113
198029	0.5531	94
198027	0.2699	96

Top tissues by expression

264 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	86.04	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.43	gold quality
right testis	UBERON:0004534	66.42	gold quality
testis	UBERON:0000473	65.63	gold quality
left testis	UBERON:0004533	64.76	gold quality
decidua	UBERON:0002450	56.55	gold quality
hair follicle	UBERON:0002073	52.43	gold quality
adult organism	UBERON:0007023	51.58	silver quality
frontal pole	UBERON:0002795	50.41	gold quality
middle frontal gyrus	UBERON:0002702	50.30	gold quality
paraflocculus	UBERON:0005351	50.18	gold quality
Brodmann (1909) area 10	UBERON:0013541	50.18	gold quality
thymus	UBERON:0002370	50.15	gold quality
quadriceps femoris	UBERON:0001377	49.88	gold quality
metanephric glomerulus	UBERON:0004736	49.61	gold quality
buccal mucosa cell	CL:0002336	49.54	gold quality
vastus lateralis	UBERON:0001379	49.45	gold quality
oviduct epithelium	UBERON:0004804	49.38	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
cerebellar vermis	UBERON:0004720	49.25	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
myocardium	UBERON:0002349	48.87	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
epithelial cell of pancreas	CL:0000083	48.62	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
CA1 field of hippocampus	UBERON:0003881	48.50	gold quality
left ventricle myocardium	UBERON:0006566	48.24	gold quality
orbitofrontal cortex	UBERON:0004167	48.20	gold quality
kidney epithelium	UBERON:0004819	48.11	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.49

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting MAGEA1, 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-513B-5P	99.99	69.96	2150
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-10393-5P	99.65	68.01	1368
HSA-MIR-4499	99.62	67.29	1470
HSA-MIR-5695	99.41	67.48	1047
HSA-MIR-4427	99.34	70.33	1854
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-324-3P	99.26	66.31	1034
HSA-MIR-5584-3P	99.23	68.79	1351
HSA-MIR-3925-5P	99.21	67.90	1466
HSA-MIR-892C-5P	99.16	70.56	2116
HSA-MIR-31-5P	98.58	68.35	1239
HSA-MIR-6509-3P	98.32	67.33	1343
HSA-MIR-3691-3P	97.90	65.97	791
HSA-MIR-4733-5P	97.75	67.44	866
HSA-MIR-6866-3P	97.38	66.94	748
HSA-MIR-6857-3P	96.70	65.43	915
HSA-MIR-759	96.16	66.77	873
HSA-MIR-151A-3P	95.52	65.29	516
HSA-MIR-6879-3P	93.93	64.00	759

Literature-anchored findings (GeneRIF, showing 40)

• The MAGE-A1 gene expression is not determined solely by methylation status of the promoter region in hematological malignancies. (PMID:12443884)
• Spontaneous in vivo priming of MAGE-specific T cell response and high frequency of MAGE1 and MAGE3 expression in hepatocellular carcinoma makes this antigen potential candidate for MAGE-specific immunotherapy in hepatocellular carcinoma. (PMID:14672620)
• MAGE-A1 can function as a potent transcriptional repressor via interactions with Ski Interacting Protein and the deacetylase HDAC1. (PMID:15316101)
• a novel sequence-specific DNA-protein interaction at the -30 CpG dinucleotide upstream of the gene was found having a vital part to play in the DNA methylation mediated transcription silencing of the MAGE-A1 gene (PMID:15353125)
• Present, by immunocytochemistry, in normal prostate, prostatic hypertrophy and prostate cancer. (PMID:16114059)
• down-regulation of DNMT1 methyltransferase leads to activation and stable hypomethylation of MAGE-A1 in melanoma cells (PMID:16497664)
• Detection of aberrant methylation patterns of MAGEs CpG islands using Methylation-special PCR may be useful for diagnosis of Hepatocellular Carcinoma. (PMID:16516880)
• The promoter hypomethylation of MAGE-A1 and MAGE-A3 genes up-regulates its expression in colorectal carcinomas as well as in gastric cancers and might play a significant role in the development and progression of human colorectal carcinomas. (PMID:17007017)
• 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)
• Results suggest that although MAGE-A1 does not participate directly in the drug-resistant phenotype, the expression of MAGE-A1 could be a marker for the prediction of resistance to taxan-based chemotherapies in patients with gastric cancers. (PMID:17611652)
• These data show, for the first time, the involvement of methyl-CpG binding domain proteins in the regulation of the MAGE-A genes. (PMID:17634428)
• Report genetic alterations of MAGE A1 in Korean colorectal cancer patients. (PMID:17704924)
• demethylation of MAGE-A1 by Mouse embryonic stem cells (PMID:18094622)
• Multiple simultaneous detection of MAGE-A [subtypes] more specific and sensitive than detection of single MAGE-A antigen for the diagnostic and prognostic evaluation of oral squamous cell carcinoma (PMID:18197853)
• The high expression rates of MAGE-1 and MAGE-3 genes in IHCC suggests the MAGE-1 and MAGE-3 gene may be a target for immunotherapy in IHCC patients. (PMID:18505125)
• The protective effect of the expression of the MAGE-A1 gene against tumoral progression of neuroblastoma is confirmed. (PMID:18820946)
• Treatment of A2780/cp70 with decitabine and belinostat results in a marked increase in expression of epigenetically silenced MLH1 and MAGE-A1 both in vitro and in vivo when compared with decitabine alone. (PMID:19259094)
• Since 37% of patients with operable NSCLC harbored disseminated tumor cells that expressed MAGE-A, only these patients might benefit from adjuvant immunotherapies directed against MAGE-A1 to -A6. (PMID:19467731)
• CCL3 and CCL20-recruited dendritic cells modified by melanoma antigen gene-1 have a role in anti-tumor immunity against gastric cancer (PMID:20420712)
• Tumor-specific antigen MAGE may play a role in the occurrence and development of ovarian cancerc and can be used as one of the important indicators for early diagnosis, efficacy evaluation and prognostic determination of ovarian cancer. (PMID:20423514)
• MAGE-A peptides and HLA class I molecules are expressed in hepatocellular carcinoma (PMID:20592351)
• High MAGE-1 is associated with differentiated advanced gastric cancer. (PMID:21042944)
• MAGE1 expression mediated by demethylation of MAGE1 promoter induce progression of non-small cell lung cancer. (PMID:21273595)
• Report MAGEA1-A6 expression in sputum suggests presence of lung cancer cells or precancerous cells. (PMID:22134685)
• results show the absence and/or low expression of MAGE A1 transcripts in oral squamous cell carcinoma; presence of hypomethylation at a small level at the promoter site of MAGE A1 was detected in both oral squamous cell carcinoma and normal oral mucosa (PMID:22447174)
• DNA methylation has a dominant role in the epigenetic hierarchy governing MAGEA1 expression (PMID:23472218)
• Differential regulation of MAGE-A1 promoter activity by BORIS and Sp1, both interacting with the TATA binding protein. (PMID:25363021)
• TRIM31 directly binds to NSE4, suggesting the existence of a TRIM31-MAGEA1-NSE4 complex reminiscent of the NSE1-NSE3-NSE4 trimer. (PMID:25590999)
• The overall survival of laryngeal squamous cell carcinoma patients with positive MAGE-A1, MAGE-A9, or MAGE-A11 expression was lower than the patients without MAGE-A1, MAGE-A9, or MAGE-A11 expression. (PMID:26766421)
• up-regulation of MAGE-A1 dramatically promoted proliferation, migration, and invasion of human melanoma cell lines in vitro (PMID:27045082)
• MAGE-A is more highly expressed than NY-ESO-1 in a majority of human malignancies (PMID:27070449)
• MAGE-A expression in blood or bone marrow at tumor surgery is an independent predictor of survival in resected non-small cell lung cancer (PMID:27542766)
• MAGEA1 was expression in 15% of synovial sarcomas and was not associated with prognosis. (PMID:27993576)
• Data show that overall survival (OS) was significantly lower for patients expressing pan-MAGE or MAGE-A1/A3/A4 in both independent cohorts. (PMID:28146422)
• Authors revealed a novel interaction between MAGEA1 and the intracellular segment of NOTCH1 receptor (NICD1). MAGEA1 reduced NICD1’s stability by promoting the ubiquitin modification of NICD1. (PMID:28459460)
• In patients with Colon cancer, the expression of MAGE-A(1-6) gene was associated with a poor prognosis. (PMID:28631709)
• These data demonstrate that MAGE-A1-, MAGE-A3-, and NY-ESO-1-specific T cells with antigen-specific cytotoxicity can be cultured from healthy donors and patient-derived cells making adoptive immunotherapy with these cytotoxic T lymphocyte feasible. (PMID:28677424)
• The expression of MAGE-A genes in peripheral blood may act as a poor prognostic marker in patients with lung cancer. (PMID:29430849)
• GPC3, MAGE1 and 3 were increased with advanced tumor stage, size, and nodule numbers in Hepatocellular Carcinoma (PMID:29708315)
• Tumor suppressive miR-6775-3p inhibits esophageal squamous cell carcinoma progression through forming a positive feedback loop with p53 via MAGE-A family proteins. (PMID:30333480)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
danio_rerio	ndnl2	ENSDARG00000058212
drosophila_melanogaster	MAGE	FBGN0037481

Paralogs (37): MAGEC2 (ENSG00000046774), 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), MAGEB3 (ENSG00000198798), MAGEE1 (ENSG00000198934), MAGEA12 (ENSG00000213401), MAGEB1 (ENSG00000214107), MAGEA3 (ENSG00000221867), MAGEB6B (ENSG00000232030), MAGEL2 (ENSG00000254585), MAGEA9B (ENSG00000267978), MAGEA2 (ENSG00000268606)

Protein

Protein identifiers

Melanoma-associated antigen 1 — P43355 (reviewed: P43355)

Alternative names: Antigen MZ2-E, Cancer/testis antigen 1.1, MAGE-1 antigen

All UniProt accessions (1): P43355

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation through interaction with SNW1 and recruiting histone deactelyase HDAC1. May inhibit notch intracellular domain (NICD) transactivation. May play a role in embryonal development and tumor transformation or aspects of tumor progression. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes.

Subunit / interactions. Interacts with SNW1 and HDCA1.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Expressed in many tumors of several types, such as melanoma, head and neck squamous cell carcinoma, lung carcinoma and breast carcinoma, but not in normal tissues except for testes. Never expressed in kidney tumors, leukemias and lymphomas.

RefSeq proteins (1): NP_004979* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002190	MHD_dom	Domain
IPR021072	MAGE_N	Domain
IPR037445	MAGE	Family
IPR041898	MAGE_WH1	Homologous_superfamily
IPR041899	MAGE_WH2	Homologous_superfamily

Pfam: PF01454, PF12440

UniProt features (11 total): sequence variant 4, mutagenesis site 2, chain 1, domain 1, region of interest 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3BO8	X-RAY DIFFRACTION	1.8
1W72	X-RAY DIFFRACTION	2.15

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P43355-F1	75.63	0.53

Antibody-complex structures (SAbDab): 1 — 1W72

Functional residue map

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

Post-translational modifications (1): 57

Mutagenesis-validated functional residues (2):

Position	Phenotype
169	abolishes hla-a1 binding.
163	abolishes hla-a1 binding.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 42 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_NEGATIVE_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, LIAO_METASTASIS, GOBP_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, HOFMANN_MYELODYSPLASTIC_SYNDROM_RISK_UP, HAMAI_APOPTOSIS_VIA_TRAIL_DN, CROMER_TUMORIGENESIS_UP, GOMF_HISTONE_DEACETYLASE_BINDING, CAMPS_COLON_CANCER_COPY_NUMBER_UP, KIM_ALL_DISORDERS_OLIGODENDROCYTE_NUMBER_CORR_DN, WAGSCHAL_EHMT2_TARGETS_UP, chrXq28, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, MIR892C_5P

GO Biological Process (2): negative regulation of transcription by RNA polymerase II (GO:0000122), negative regulation of Notch signaling pathway (GO:0045746)

GO Molecular Function (2): histone deacetylase binding (GO:0042826), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), plasma membrane (GO:0005886)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
Notch signaling pathway	1
regulation of Notch signaling pathway	1
negative regulation of signal transduction	1
enzyme binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

898 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAGEA1	GAGE4	P0DSO3	961
MAGEA1	GAGE2A	Q6NT46	909
MAGEA1	HSPA4	P34932	889
MAGEA1	DDX43	Q9NXZ2	878
MAGEA1	CTAG1A	P78358	872
MAGEA1	MOK	Q9UQ07	780
MAGEA1	CSAG1	Q6PB30	741
MAGEA1	PMEL	P40967	727
MAGEA1	CTAG2	O75638	716
MAGEA1	SNW1	Q13573	702
MAGEA1	TRIM31	Q9BZY9	688
MAGEA1	IL13RA2	Q14627	685
MAGEA1	MUC1	P13931	662
MAGEA1	NPAS4	Q8IUM7	655
MAGEA1	SAGE1	Q9NXZ1	655

IntAct

102 interactions, top by confidence:

A	B	Type	Score
MAGEA1	MIEF1	psi-mi:“MI:0915”(physical association)	0.780
SELPLG	MAGEA1	psi-mi:“MI:0915”(physical association)	0.720
MAGEA1	SELPLG	psi-mi:“MI:0915”(physical association)	0.720
ZNF564	MAGEA1	psi-mi:“MI:0915”(physical association)	0.670
TRIM31	MAGEA1	psi-mi:“MI:0915”(physical association)	0.670
MAGEA1	ZNF564	psi-mi:“MI:0915”(physical association)	0.670
MAGEA1	TRIM31	psi-mi:“MI:0915”(physical association)	0.670
SH3GLB2	MAGEA1	psi-mi:“MI:0915”(physical association)	0.620
MAGEA1	SH3GLB2	psi-mi:“MI:0915”(physical association)	0.620
MAGEA1	CCP1	psi-mi:“MI:0915”(physical association)	0.610
MAGEA1	VMA1	psi-mi:“MI:0915”(physical association)	0.610
CCP1	MAGEA1	psi-mi:“MI:0915”(physical association)	0.610

BioGRID (204): MAGEA1 (Two-hybrid), MAGEA1 (Two-hybrid), PBX3 (Two-hybrid), SELPLG (Two-hybrid), TRIM31 (Two-hybrid), HYPK (Two-hybrid), MIEF1 (Two-hybrid), C19orf66 (Two-hybrid), RAB17 (Two-hybrid), ZNF564 (Two-hybrid), CEP57L1 (Two-hybrid), ANKRD17 (Affinity Capture-MS), ANKHD1 (Affinity Capture-MS), ANKHD1-EIF4EBP3 (Affinity Capture-MS), IQGAP2 (Affinity Capture-MS)

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

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	34
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

376 predictions. Top by Δscore:

Variant	Effect	Δscore
X:153182248:C:CC	donor_gain	1.0000
X:153182248:CAGAT:C	donor_gain	1.0000
X:153182249:A:AC	donor_gain	1.0000
X:153182173:T:C	acceptor_loss	0.9900
X:153182177:AAC:A	acceptor_gain	0.9900
X:153182248:C:CG	donor_loss	0.9900
X:153182248:CA:C	donor_gain	0.9900
X:153182248:CAG:C	donor_gain	0.9900
X:153182248:CAGA:C	donor_gain	0.9900
X:153182249:ACAGA:A	donor_loss	0.9900
X:153182250:T:TC	donor_loss	0.9900
X:153182251:TTACA:T	donor_loss	0.9900
X:153182252:CTTAC:C	donor_loss	0.9900
X:153182253:ACT:A	donor_loss	0.9900
X:153182254:TAC:T	donor_loss	0.9900
X:153182255:CTACT:C	donor_loss	0.9900
X:153182322:C:CC	acceptor_gain	0.9900
X:153182327:CAGGC:C	acceptor_gain	0.9900
X:153179360:G:A	donor_gain	0.9800
X:153179364:C:A	donor_loss	0.9800
X:153179365:A:AT	donor_loss	0.9800
X:153182174:C:CC	acceptor_gain	0.9800
X:153182322:C:CG	acceptor_loss	0.9800
X:153182324:GCCT:G	acceptor_loss	0.9800
X:153182325:GGCC:G	acceptor_loss	0.9800
X:153179357:T:TA	donor_gain	0.9700
X:153182175:CC:C	acceptor_gain	0.9700
X:153182176:AC:A	acceptor_gain	0.9700
X:153180502:C:A	donor_gain	0.9600
X:153182173:T:A	acceptor_gain	0.9500

AlphaMissense

2005 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:153183180:T:C	F264S	0.978
X:153182852:T:C	F155L	0.969
X:153182854:T:A	F155L	0.969
X:153182854:T:G	F155L	0.969
X:153183179:T:C	F264L	0.966
X:153183181:C:A	F264L	0.966
X:153183181:C:G	F264L	0.966
X:153183131:T:C	Y248H	0.958
X:153183034:G:C	W215C	0.950
X:153183034:G:T	W215C	0.950
X:153182772:T:C	M128T	0.946
X:153183188:G:C	G267R	0.944
X:153183185:T:A	W266R	0.943
X:153183185:T:C	W266R	0.943
X:153182807:T:C	F140L	0.941
X:153182809:T:A	F140L	0.941
X:153182809:T:G	F140L	0.941
X:153183132:A:C	Y248S	0.937
X:153183180:T:G	F264C	0.934
X:153182737:A:C	K116N	0.929
X:153182737:A:T	K116N	0.929
X:153182808:T:G	F140C	0.925
X:153182736:A:T	K116I	0.924
X:153182772:T:G	M128R	0.923
X:153183187:G:C	W266C	0.919
X:153183187:G:T	W266C	0.919
X:153183032:T:A	W215R	0.917
X:153183032:T:C	W215R	0.917
X:153183022:G:C	E211D	0.915
X:153183022:G:T	E211D	0.915

dbSNP variants (sampled 300 via entrez): RS1003839373 (X:153177836 T>C), RS1004973947 (X:153181538 C>A,T), RS1005444224 (X:153178721 G>A,T), RS1005827383 (X:153178477 A>C,G), RS1006242233 (X:153183522 G>A,T), RS1007646177 (X:153177729 A>G), RS1008029923 (X:153177387 T>C), RS1008250272 (X:153180332 T>A), RS1009522784 (X:153177417 C>A,G), RS1009554154 (X:153177789 C>T), RS1010428087 (X:153182879 C>G), RS1011192852 (X:153179316 G>A), RS1011224064 (X:153179470 G>A), RS1012441148 (X:153180011 C>T), RS1012886733 (X:153180291 C>T)

Disease associations

OMIM: gene MIM:300016 | 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

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Decitabine	increases expression, increases reaction, affects expression, affects methylation, decreases methylation (+1 more)	11
Benzo(a)pyrene	affects methylation, increases expression, increases mutagenesis	2
bisphenol A	decreases methylation	1
butyraldehyde	increases expression	1
CGP 52608	affects binding, increases reaction	1
belinostat	increases reaction, increases expression	1
AC 93253	decreases expression	1
Temozolomide	increases expression	1
Vemurafenib	decreases expression	1
Acetaminophen	decreases expression	1
Azacitidine	decreases methylation, decreases reaction	1
Cadmium	increases expression, increases abundance	1
Hydroxyurea	decreases methylation, decreases reaction	1
Cadmium Chloride	increases abundance, increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E1GL	Abcam U2OS MAGEA1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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