MAGEA11

Summary

MAGEA11 (MAGE family member A11, HGNC:6798) is a protein-coding gene on chromosome Xq28, encoding Melanoma-associated antigen 11 (P43364). Acts as androgen receptor coregulator that increases androgen receptor activity by modulating the receptors interdomain interaction.

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. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 4110 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 39 total
• MANE Select transcript: NM_005366

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6798
Approved symbol	MAGEA11
Name	MAGE family member A11
Location	Xq28
Locus type	gene with protein product
Status	Approved
Aliases	MAGE-11, MAGEA-11, MGC10511, CT1.11
Ensembl gene	ENSG00000185247
Ensembl biotype	protein_coding
OMIM	300344
Entrez	4110

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 retained_intron

ENST00000333104, ENST00000355220, ENST00000412632, ENST00000518694

RefSeq mRNA: 2 — MANE Select: NM_005366 NM_001011544, NM_005366

CCDS: CCDS48180, CCDS94721

Canonical transcript exons

ENST00000355220 — 5 exons

Exon	Start	End
ENSE00001417596	149712060	149712162
ENSE00001452662	149713143	149713255
ENSE00001651596	149714481	149714576
ENSE00001887473	149715753	149717268
ENSE00003542611	149715604	149715677

Expression profiles

Bgee: expression breadth broad, 35 present calls, max score 83.52.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2189 / max 46.1562, expressed in 34 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
197949	0.1360	26
197947	0.0537	8
197950	0.0253	12
197948	0.0039	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus epididymis	UBERON:0004359	83.52	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.26	gold quality
cauda epididymis	UBERON:0004360	81.04	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	75.35	gold quality
right testis	UBERON:0004534	67.92	gold quality
placenta	UBERON:0001987	66.40	gold quality
testis	UBERON:0000473	66.36	gold quality
left testis	UBERON:0004533	66.36	gold quality
decidua	UBERON:0002450	56.55	gold quality
seminal vesicle	UBERON:0000998	52.44	gold quality
hair follicle	UBERON:0002073	52.43	gold 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
quadriceps femoris	UBERON:0001377	49.75	gold quality
adult organism	UBERON:0007023	49.60	silver quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
cerebellar vermis	UBERON:0004720	49.25	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
vastus lateralis	UBERON:0001379	49.17	gold quality
thymus	UBERON:0002370	49.09	silver 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
ileal mucosa	UBERON:0000331	48.75	silver quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
CA1 field of hippocampus	UBERON:0003881	48.50	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.79

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP1

miRNA regulators (miRDB)

28 targeting MAGEA11, 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-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-34B-5P	99.78	67.56	1175
HSA-MIR-449C-5P	99.78	67.63	1168
HSA-MIR-2682-5P	99.73	67.38	1055
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-5003-5P	99.61	69.13	1624
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-4325	99.49	72.20	1342
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-5695	99.41	67.48	1047
HSA-MIR-148A-5P	99.30	68.27	1141
HSA-MIR-873-5P	98.84	66.90	1348
HSA-MIR-127-5P	97.78	67.64	869
HSA-MIR-4700-3P	97.74	68.64	1014
HSA-MIR-1291	96.28	65.89	1224
HSA-MIR-644A	96.02	66.52	786
HSA-MIR-6775-3P	95.76	65.91	982
HSA-MIR-6851-3P	95.73	65.11	688
HSA-MIR-2861	95.24	65.47	1056
HSA-MIR-328-3P	92.82	64.37	521

Literature-anchored findings (GeneRIF, showing 30)

• MAGE-11 is a unique AR coregulator that increases AR activity by modulating the AR interdomain interaction. (PMID:15684378)
• The results suggest that MAGE-11 functions as a coregulator that increases AR transcriptional activity during the establishment of uterine receptivity in the human female. (PMID:18048459)
• The time-dependent EGF-induced increase in AR transcriptional activity by MAGE-11 is mediated through AR activation functions 1 and 2 in association with the increased turnover of AR and MAGE-11. (PMID:18212060)
• Knockdown of MAGE-11 by small interfering RNA results in decreased hypoxic induction of HIF-1alpha and its target genes. Inhibition of PHD by MAGE-11, and following activation of HIFs, is a novel tumor-associated HIF regulatory mechanism. (PMID:19147576)
• Increased expression of the AR coregulator MAGE-11 through promoter DNA hypomethylation and cyclic AMP is associated with prostate cancer (PMID:19372581)
• Results suggest that MAGE-11 functions as a bridging factor to recruit androgen receptor coactivators through a novel FXX(L/I)F motif-F-box interaction paradigm. (PMID:19828458)
• MAGE-11 links NH(2)-terminal domains of AR and p300 to promote transcriptional synergy through a cadre of FXXLF-related interacting motifs (PMID:20448036)
• Gain in transcriptional activity by primate-specific coevolution of melanoma antigen-A11 and its interaction site in androgen receptor. (PMID:21730049)
• the functional defect associated with an AR exon 1 missense mutation. (PMID:22334658)
• MAGE-A11, similarly to HER-2 and ER-beta, may be an important diagnostic or prognostic indicator in breast cancer and potentially promotes tumor proliferation. (PMID:23064813)
• MAGE-A11 increases AR transcriptional activity by linking androgen receptor dimers. (PMID:23172223)
• MAGEA11 regulation is highly instructive for understanding mechanisms regulating CG antigen genes in human cancer. (PMID:23839233)
• MAGE-A11 is a proto-oncogene whose increased expression in prostate cancer reverses retinoblastoma-related protein p107 from a transcriptional repressor to a transcriptional activator of the androgen receptor and E2F1. (PMID:23853093)
• MAGE-A9 and MAGE-A11 are tumor-specific antigens and not only DNA hypermethylation but also histone deacetylation is responsible for the mechanism underlying MAGE-A9 and MAGE-A11 gene silencing. (PMID:24316396)
• degradation of MAGE-A11 promoted by the human p14-ARF tumor suppressor contributes to low levels of MAGE-A11 in nontransformed cells (PMID:26330556)
• 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)
• MAGE-A11 is an independent poor prognostic marker for esophageal squamous cell carcinoma (ESCC) patients. MAGE-A11 regulates various cell functions and directly increases the invasion and proliferation of ESCC cells. (PMID:27362547)
• direct interactions of MAGE-A11 with Skp2 and cyclin A regulate the substrate-specificity of Skp2-mediated protein degradation. (PMID:27720894)
• MAGE-A11 and androgen receptor cooperate in the up-regulation of FSTL1 to promote the growth of prostate cancer. (PMID:27976415)
• SUV39H2 functioned cooperatively with MAGE-A11 to increase androgen-dependent AR transcriptional activity. (PMID:28042025)
• MageA6 and MageA11 form a protein complex resulting in the stabilization of MageA11 and consequently the enhancement of androgen receptor activity. (PMID:28542476)
• MAGE-A11 and transcription factors SP1,TFCP2 and ZEB1 expression were associated with some clinical features in patients, such as pathological differentiation, tumor size, clinical stage, lymph node metastasis and distant metastasis. Patients with ESCC having high MAGE-A11 and transcription factors (SP1,TFCP2 and ZEB1) expression had a worse prognosis compared to the patients with low expression. (PMID:31126819)
• Significant up-regulation of melanoma-associated antigen-A11 was detected in esophageal cancer cell lines and esophageal squamous cell carcinoma tissues. Up-regulation of melanoma-associated antigen-A11 contributed to proliferation and invasion in cancer cells. (PMID:31155488)
• AR and MAGEA11 associate in a molecular complex. (PMID:31256208)
• High MAGE-A11 expression is associated with tumorigenesis. (PMID:31980388)
• Epigenetic modulation combined with PD-1/PD-L1 blockade enhances immunotherapy based on MAGE-A11 antigen-specific CD8+T cells against esophageal carcinoma. (PMID:32529260)
• Structural basis for substrate recognition and chemical inhibition of oncogenic MAGE ubiquitin ligases. (PMID:33004795)
• Co-expression of cancer-testis antigens of MAGE-A6 and MAGE-A11 is associated with tumor aggressiveness in patients with bladder cancer. (PMID:35022469)
• Molecular Characteristics of Bladder Tumor: Increased Gene Expression of MAGE-A6 and MAGE-A11 with Decreased MicroRNA-34a and MicroRNA-125b. (PMID:36341564)
• The Disruption of Mage-11 Gene via CRISPR/Cas9 Method Induced Apoptosis in the in vitro Model of Prostate Cancer. (PMID:36804154)

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): 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), 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 11 — P43364 (reviewed: P43364)

Alternative names: Cancer/testis antigen 1.11, MAGE-11 antigen

All UniProt accessions (3): C9J2X2, P43364, G5E962

UniProt curated annotations — full annotation on UniProt →

Function. Acts as androgen receptor coregulator that increases androgen receptor activity by modulating the receptors interdomain interaction. May play a role in embryonal development and tumor transformation or aspects of tumor progression.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Expressed in tumors of several types, such as melanoma, head and neck squamous cell carcinoma, lung carcinoma and breast carcinoma. Expressed in testis, ovary, prostate, cancerous prostate, breast and adrenal tissue.

Isoforms (2)

UniProt ID	Names	Canonical?
P43364-1	1	yes
P43364-2	2

RefSeq proteins (2): NP_001011544, NP_005357* (*=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 (28 total): helix 14, strand 4, turn 2, region of interest 2, sequence variant 2, chain 1, domain 1, compositionally biased region 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6WJH	X-RAY DIFFRACTION	2.19

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P43364-F1	63.66	0.40

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 51 (showing top): YORDY_RECIPROCAL_REGULATION_BY_ETS1_AND_SP100_DN, MAHAJAN_RESPONSE_TO_IL1A_DN, YOKOE_CANCER_TESTIS_ANTIGENS, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, GOCC_NUCLEAR_BODY, LINDGREN_BLADDER_CANCER_CLUSTER_1_DN, GOMF_HISTONE_DEACETYLASE_BINDING, chrXq28, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, PEDRIOLI_MIR31_TARGETS_UP, KRAS.600_UP.V1_UP, KRAS.600.LUNG.BREAST_UP.V1_UP, GSE13522_WT_VS_IFNAR_KO_SKING_T_CRUZI_Y_STRAIN_INF_DN, MIR519E_5P

GO Biological Process (1): negative regulation of transcription by RNA polymerase II (GO:0000122)

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

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), nuclear body (GO:0016604), 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
enzyme binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
nucleoplasm	1
intracellular membraneless organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

552 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAGEA11	EGLN1	Q9GZT9	665
MAGEA11	EP300	Q09472	607
MAGEA11	NCOA2	Q15596	570
MAGEA11	AR	P10275	510
MAGEA11	HUWE1	Q7Z6Z7	469
MAGEA11	LCE2D	Q5TA82	461
MAGEA11	PCF11	O94913	434
MAGEA11	HSFX4	A0A1B0GTS1	433
MAGEA11	A0A1W2PQG5	A0A1W2PQG5	419
MAGEA11	FLNA	P21333	418
MAGEA11	KRTAP1-3	Q8IUG1	405
MAGEA11	EGLN3	Q9H6Z9	401
MAGEA11	CSAG2	Q9Y5P2	400
MAGEA11	EGLN2	Q96KS0	394
MAGEA11	ZNF558	Q96NG5	394

IntAct

236 interactions, top by confidence:

A	B	Type	Score
MLF1	MAGEA11	psi-mi:“MI:0915”(physical association)	0.740
MAGEA11	MLF1	psi-mi:“MI:0915”(physical association)	0.740
MAGEA11	TCF25	psi-mi:“MI:0915”(physical association)	0.740
MAGEA11	TRMT1	psi-mi:“MI:0915”(physical association)	0.740
STAR	MAGEA11	psi-mi:“MI:0915”(physical association)	0.720
MAGEA11	STAR	psi-mi:“MI:0915”(physical association)	0.720
MAGEA11	CLUAP1	psi-mi:“MI:0915”(physical association)	0.700
MAGEA11	TCEA2	psi-mi:“MI:0915”(physical association)	0.700
MAGEA11	JADE3	psi-mi:“MI:0915”(physical association)	0.680
IL11	MAGEA11	psi-mi:“MI:0915”(physical association)	0.670
PHYH	MAGEA11	psi-mi:“MI:0915”(physical association)	0.670
CDKN2B	MAGEA11	psi-mi:“MI:0915”(physical association)	0.670
MAGEA11	LAS2	psi-mi:“MI:0915”(physical association)	0.670
MAGEA11	TMEM123	psi-mi:“MI:0915”(physical association)	0.670
MAGEA11	WTAP	psi-mi:“MI:0915”(physical association)	0.670
MAGEA11	NDUFB9	psi-mi:“MI:0915”(physical association)	0.670
MAGEA11	PHYH	psi-mi:“MI:0915”(physical association)	0.670
	MAGEA11	psi-mi:“MI:0915”(physical association)	0.560
LMBR1L	MAGEA11	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (236): MAGEA11 (Two-hybrid), MAGEA11 (Two-hybrid), MAGEA11 (Two-hybrid), MAGEA11 (Two-hybrid), NDUFB9 (Two-hybrid), NOS3 (Two-hybrid), PIN4 (Two-hybrid), STAR (Two-hybrid), TPM3 (Two-hybrid), MTA1 (Two-hybrid), JADE3 (Two-hybrid), GNPDA1 (Two-hybrid), BCL2L11 (Two-hybrid), ENOX2 (Two-hybrid), USP20 (Two-hybrid)

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
MAPK3	up-regulates	MAGEA11	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	24
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

626 predictions. Top by Δscore:

Variant	Effect	Δscore
X:149714476:GGCA:G	acceptor_loss	1.0000
X:149714477:GCA:G	acceptor_loss	1.0000
X:149714478:CA:C	acceptor_loss	1.0000
X:149714479:AGGTG:A	acceptor_loss	1.0000
X:149714480:G:GC	acceptor_loss	1.0000
X:149715599:TTCA:T	acceptor_loss	1.0000
X:149715602:A:AC	acceptor_loss	1.0000
X:149715602:A:AG	acceptor_gain	1.0000
X:149715603:G:GG	acceptor_gain	1.0000
X:149715603:G:GT	acceptor_loss	1.0000
X:149715673:CAAGT:C	donor_gain	1.0000
X:149715674:AAGT:A	donor_gain	1.0000
X:149715675:AGTG:A	donor_loss	1.0000
X:149715676:GT:G	donor_gain	1.0000
X:149715678:G:GG	donor_gain	1.0000
X:149715680:AAG:A	donor_loss	1.0000
X:149714475:G:A	acceptor_gain	0.9900
X:149714475:GGGCA:G	acceptor_loss	0.9900
X:149714572:TCCAG:T	donor_loss	0.9900
X:149714573:CCAG:C	donor_loss	0.9900
X:149714574:CAGG:C	donor_loss	0.9900
X:149714575:AG:A	donor_loss	0.9900
X:149714576:GGTGA:G	donor_loss	0.9900
X:149714577:G:C	donor_loss	0.9900
X:149714578:T:G	donor_loss	0.9900
X:149715602:AG:A	acceptor_gain	0.9900
X:149715603:GG:G	acceptor_gain	0.9900
X:149715603:GGT:G	acceptor_gain	0.9900
X:149715603:GGTT:G	acceptor_gain	0.9900
X:149715682:G:GG	donor_gain	0.9900

AlphaMissense

2826 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:149716637:T:C	F384S	0.971
X:149716636:T:C	F384L	0.963
X:149716638:C:A	F384L	0.963
X:149716638:C:G	F384L	0.963
X:149716642:T:A	W386R	0.963
X:149716642:T:C	W386R	0.963
X:149716645:G:C	G387R	0.959
X:149716309:T:C	F275L	0.957
X:149716311:T:A	F275L	0.957
X:149716311:T:G	F275L	0.957
X:149716229:T:C	M248T	0.955
X:149716573:T:A	W363R	0.946
X:149716573:T:C	W363R	0.946
X:149716491:G:C	W335C	0.945
X:149716491:G:T	W335C	0.945
X:149716588:T:C	Y368H	0.945
X:149716229:T:G	M248R	0.944
X:149716644:G:C	W386C	0.944
X:149716644:G:T	W386C	0.944
X:149716685:T:A	L400H	0.938
X:149716285:G:C	A267P	0.932
X:149716489:T:A	W335R	0.931
X:149716489:T:C	W335R	0.931
X:149716589:A:C	Y368S	0.931
X:149716264:T:C	F260L	0.930
X:149716266:T:A	F260L	0.930
X:149716266:T:G	F260L	0.930
X:149716540:T:C	F352L	0.930
X:149716542:T:A	F352L	0.930
X:149716542:T:G	F352L	0.930

dbSNP variants (sampled 300 via entrez): RS1000309758 (X:149694000 T>C), RS1000320702 (X:149694614 T>C), RS1000642429 (X:149691789 A>G), RS1000694636 (X:149692329 C>A,T), RS1000833936 (X:149700654 T>C), RS1001058805 (X:149708524 G>T), RS1001128453 (X:149708992 A>T), RS1001178659 (X:149709110 C>A), RS1001247202 (X:149709499 T>C), RS1001307155 (X:149701960 G>T), RS1002194882 (X:149692488 T>C), RS1002206194 (X:149693063 A>G), RS1002258725 (X:149693572 A>T), RS1002479917 (X:149702565 T>A,C), RS1002699482 (X:149688687 T>C)

Disease associations

OMIM: gene MIM:300344 | 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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, increases expression	2
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	increases expression	1
Cyclosporine	decreases expression	1

Clinical trials (associated diseases)

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