MAGEB18

Summary

MAGEB18 (MAGE family member B18, HGNC:28515) is a protein-coding gene on chromosome Xp21.3, encoding Melanoma-associated antigen B18 (Q96M61). May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases.

Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm. Predicted to be active in nucleus.

Source: NCBI Gene 286514 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 32 total
• MANE Select transcript: NM_173699

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28515
Approved symbol	MAGEB18
Name	MAGE family member B18
Location	Xp21.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC33889
Ensembl gene	ENSG00000176774
Ensembl biotype	protein_coding
OMIM	301064
Entrez	286514

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000325250

RefSeq mRNA: 1 — MANE Select: NM_173699 NM_173699

CCDS: CCDS14216

Canonical transcript exons

ENST00000325250 — 3 exons

Exon	Start	End
ENSE00001287022	26140180	26140736
ENSE00001287031	26138343	26138467
ENSE00001287042	26138924	26140053

Expression profiles

Bgee: expression breadth tissue_specific, 8 present calls, max score 82.41.

Top tissues by expression

242 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	82.41	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	62.67	gold quality
buccal mucosa cell	CL:0002336	49.62	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
middle temporal gyrus	UBERON:0002771	42.44	gold quality
vastus lateralis	UBERON:0001379	41.41	gold quality
quadriceps femoris	UBERON:0001377	41.37	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
amniotic fluid	UBERON:0000173	40.69	gold quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
biceps brachii	UBERON:0001507	40.57	gold quality
epithelium of nasopharynx	UBERON:0001951	40.45	gold quality
myocardium	UBERON:0002349	40.45	gold quality
gingival epithelium	UBERON:0001949	40.43	gold quality
germinal epithelium of ovary	UBERON:0001304	40.33	gold quality
esophagus squamous epithelium	UBERON:0006920	40.29	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	40.27	gold quality
jejunum	UBERON:0002115	40.18	gold quality
cartilage tissue	UBERON:0002418	40.06	gold quality
mammary duct	UBERON:0001765	39.98	gold quality
mucosa of sigmoid colon	UBERON:0004993	39.95	gold quality
deltoid	UBERON:0001476	39.83	gold quality
saphenous vein	UBERON:0007318	39.83	gold quality
parotid gland	UBERON:0001831	39.81	gold quality
oocyte	CL:0000023	39.80	gold quality
urethra	UBERON:0000057	39.80	gold quality
heart right ventricle	UBERON:0002080	39.79	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

miRNA regulators (miRDB)

28 targeting MAGEB18, 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-3613-3P	100.00	76.36	7965
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-410-3P	99.27	69.98	2457
HSA-MIR-149-5P	99.25	67.16	1315
HSA-MIR-4477B	99.23	70.49	1733
HSA-MIR-122B-3P	99.21	68.90	1333
HSA-MIR-21-3P	99.21	68.95	1312
HSA-MIR-4703-5P	98.53	70.13	1645
HSA-MIR-3942-5P	98.52	69.51	1517
HSA-MIR-1248	98.47	67.54	1314
HSA-MIR-625-3P	97.32	66.55	554

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ndnl2	ENSDARG00000058212
mus_musculus	Mageb18	ENSMUSG00000067649
rattus_norvegicus	Mageb18	ENSRNOG00000038230
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), 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 B18 — Q96M61 (reviewed: Q96M61)

Alternative names: MAGE-B18 antigen

All UniProt accessions (1): Q96M61

UniProt curated annotations — full annotation on UniProt →

Function. May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex.

Subunit / interactions. Interacts with LNX1.

Subcellular location. Cytoplasm.

RefSeq proteins (1): NP_775970* (*=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): compositionally biased region 5, region of interest 3, chain 1, domain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96M61-F1	75.10	0.39

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 19 (showing top): chrXp21, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, MIR4694_3P, MIR410_3P, MIR3692_3P, MIR519D_5P, MIR4703_5P, MIR1236_3P, MIR122B_3P, MIR21_3P, MIR149_5P, MIR1229_3P, GSE29614_CTRL_VS_TIV_FLU_VACCINE_PBMC_2007_DN, GSE29614_CTRL_VS_DAY7_TIV_FLU_VACCINE_PBMC_DN

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

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)

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
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

274 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAGEB18	LNX1	Q8TBB1	969
MAGEB18	LNX2	Q8N448	555
MAGEB18	NSMCE4A	Q9NXX6	515
MAGEB18	NSMCE1	Q8WV22	435
MAGEB18	PJA1	Q8NG27	417
MAGEB18	CST9L	Q9H4G1	405
MAGEB18	NUDT8	Q8WV74	392
MAGEB18	KIAA1210	Q9ULL0	370
MAGEB18	TRIM27	P14373	365
MAGEB18	C10orf71	Q711Q0	357
MAGEB18	DYNLT4	Q5JR98	356
MAGEB18	RNF133	Q8WVZ7	348
MAGEB18	VSIG1	Q86XK7	345
MAGEB18	PPP4R2	Q9NY27	333
MAGEB18	TCTA	P57738	320

IntAct

66 interactions, top by confidence:

A	B	Type	Score
MAGEB18	LNX1	psi-mi:“MI:0915”(physical association)	0.890
LNX1	MAGEB18	psi-mi:“MI:0915”(physical association)	0.890
MAGEB18	LNX1	psi-mi:“MI:0403”(colocalization)	0.890
MAGEB18	TNIP1	psi-mi:“MI:0915”(physical association)	0.700
TNIP1	MAGEB18	psi-mi:“MI:0915”(physical association)	0.700
MAGEB18	TP53	psi-mi:“MI:0915”(physical association)	0.670
HTT	MAGEB18	psi-mi:“MI:0915”(physical association)	0.670

BioGRID (20): MAGEB18 (Two-hybrid), MAGEB18 (Two-hybrid), MAGEB18 (Two-hybrid), MAGEB18 (Two-hybrid), MAGEB18 (Two-hybrid), MAGEB18 (Two-hybrid), MAGEB18 (Two-hybrid), MAGEB18 (Two-hybrid), MAGEB18 (Affinity Capture-Western), MAGEB18 (Two-hybrid), MAGEB18 (Affinity Capture-MS), MAGEB18 (Negative Genetic), LNX1 (Affinity Capture-MS), MAGEB18 (Affinity Capture-Western), MAGEB18 (Reconstituted Complex)

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	27
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

210 predictions. Top by Δscore:

Variant	Effect	Δscore
X:26138465:AAAGT:A	donor_loss	1.0000
X:26138467:AGT:A	donor_loss	1.0000
X:26138468:G:C	donor_loss	1.0000
X:26138468:G:GG	donor_gain	1.0000
X:26138470:GAGTA:G	donor_loss	1.0000
X:26138461:TGTCA:T	donor_gain	0.9900
X:26138462:GTCAA:G	donor_gain	0.9900
X:26138466:AA:A	donor_gain	0.9900
X:26138469:T:A	donor_loss	0.9900
X:26138471:AGTA:A	donor_loss	0.9900
X:26140010:C:G	donor_gain	0.9900
X:26138465:AAA:A	donor_gain	0.9700
X:26140009:GC:G	donor_gain	0.9700
X:26138464:CAAA:C	donor_gain	0.9600
X:26140010:C:CG	donor_gain	0.9500
X:26138457:C:T	donor_gain	0.9200
X:26138922:AG:A	acceptor_gain	0.9100
X:26138923:GG:G	acceptor_gain	0.9100
X:26138918:TTCTA:T	acceptor_loss	0.9000
X:26138919:TCTAG:T	acceptor_loss	0.9000
X:26138920:CTAGG:C	acceptor_loss	0.9000
X:26138921:TA:T	acceptor_loss	0.9000
X:26138922:AGGG:A	acceptor_loss	0.9000
X:26138923:G:GT	acceptor_loss	0.9000
X:26138993:G:GC	acceptor_gain	0.9000
X:26140046:TCGAA:T	donor_gain	0.9000
X:26138463:TCAAA:T	donor_gain	0.8900
X:26138923:GGGT:G	acceptor_gain	0.8700
X:26138922:A:AG	acceptor_gain	0.8600
X:26138923:G:GG	acceptor_gain	0.8600

AlphaMissense

2273 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:26139796:T:A	W271R	0.980
X:26139796:T:C	W271R	0.980
X:26139791:T:C	F269S	0.967
X:26139439:G:C	A152P	0.964
X:26139844:T:C	F287L	0.964
X:26139846:T:A	F287L	0.964
X:26139846:T:G	F287L	0.964
X:26139850:G:C	A289P	0.964
X:26139828:G:C	K281N	0.957
X:26139828:G:T	K281N	0.957
X:26139798:G:C	W271C	0.956
X:26139798:G:T	W271C	0.956
X:26139799:G:C	G272R	0.953
X:26139880:T:C	F299L	0.946
X:26139882:C:A	F299L	0.946
X:26139882:C:G	F299L	0.946
X:26139476:T:C	L164S	0.944
X:26139743:A:C	Y253S	0.942
X:26139901:G:C	A306P	0.942
X:26139338:T:C	L118S	0.940
X:26139641:T:A	V219D	0.939
X:26139431:T:C	L149P	0.937
X:26139851:C:A	A289D	0.936
X:26139643:T:A	W220R	0.934
X:26139643:T:C	W220R	0.934
X:26139742:T:C	Y253H	0.934
X:26139598:G:C	G205R	0.932
X:26139645:G:C	W220C	0.930
X:26139645:G:T	W220C	0.930
X:26139326:T:C	L114P	0.928

dbSNP variants (sampled 300 via entrez): RS1002596911 (X:26138427 G>C), RS1002764448 (X:26138750 T>C), RS1002894956 (X:26137347 G>A,T), RS1004230084 (X:26137047 C>T), RS1004420287 (X:26138179 T>C), RS1006062291 (X:26138365 T>G), RS1006111578 (X:26137966 A>G), RS1007375728 (X:26137150 C>T), RS1007694552 (X:26137453 G>A), RS1009529567 (X:26138836 A>C), RS1010241604 (X:26139555 T>C), RS1010530448 (X:26137082 C>T), RS1012426632 (X:26136542 G>A), RS1014051623 (X:26140534 T>C), RS1014400579 (X:26140776 C>T)

Disease associations

OMIM: gene MIM:301064 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST000824_8	Erectile dysfunction and prostate cancer treatment	7.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases methylation	1
Cadmium	decreases expression	1

Clinical trials (associated diseases)

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