MAGEB17

Summary

MAGEB17 (MAGE family member B17, HGNC:17418) is a protein-coding gene on chromosome Xp22.2, encoding Melanoma-associated antigen B17 (A8MXT2).

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

Source: NCBI Gene 645864 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_001277307

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17418
Approved symbol	MAGEB17
Name	MAGE family member B17
Location	Xp22.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000182798
Ensembl biotype	protein_coding
OMIM	300763
Entrez	645864

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000400003, ENST00000400004

RefSeq mRNA: 1 — MANE Select: NM_001277307 NM_001277307

CCDS: CCDS59524

Canonical transcript exons

ENST00000400004 — 2 exons

Exon	Start	End
ENSE00001541167	16170334	16171464
ENSE00001583993	16167481	16167783

Expression profiles

Bgee: expression breadth broad, 48 present calls, max score 61.53.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	61.53	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	59.05	gold quality
lower esophagus muscularis layer	UBERON:0035833	58.35	gold quality
lower esophagus	UBERON:0013473	58.20	gold quality
mucosa of stomach	UBERON:0001199	57.30	gold quality
stromal cell of endometrium	CL:0002255	57.26	gold quality
right testis	UBERON:0004534	54.46	gold quality
pancreas	UBERON:0001264	53.66	gold quality
mucosa of transverse colon	UBERON:0004991	53.09	gold quality
testis	UBERON:0000473	52.68	gold quality
skeletal muscle tissue	UBERON:0001134	52.41	silver quality
left testis	UBERON:0004533	52.24	gold quality
muscle tissue	UBERON:0002385	50.06	silver quality
vermiform appendix	UBERON:0001154	46.27	silver quality
smooth muscle tissue	UBERON:0001135	46.03	gold quality
gastrocnemius	UBERON:0001388	45.78	gold quality
muscle of leg	UBERON:0001383	45.70	gold quality
transverse colon	UBERON:0001157	44.17	gold quality
ventricular zone	UBERON:0003053	44.10	silver quality
colon	UBERON:0001155	42.68	gold quality
apex of heart	UBERON:0002098	42.57	silver quality
muscle layer of sigmoid colon	UBERON:0035805	42.47	gold quality
rectum	UBERON:0001052	42.33	gold quality
esophagus	UBERON:0001043	42.26	gold quality
bone marrow cell	CL:0002092	42.12	gold quality
colonic epithelium	UBERON:0000397	41.98	gold quality
right coronary artery	UBERON:0001625	41.33	silver quality
sural nerve	UBERON:0015488	41.05	gold quality
granulocyte	CL:0000094	40.58	gold quality
hindlimb stylopod muscle	UBERON:0004252	40.44	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.97

Regulation

Is transcription factor: no

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), 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 B17 — A8MXT2 (reviewed: A8MXT2)

All UniProt accessions (1): A8MXT2

UniProt curated annotations — full annotation on UniProt →

RefSeq proteins (1): NP_001264236* (*=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 (7 total): compositionally biased region 4, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MXT2-F1	75.35	0.44

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 7 (showing top): chrXp22, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GSE9946_IMMATURE_VS_MATURE_STIMULATORY_DC_UP, GSE14413_UNSTIM_VS_IFNB_STIM_L929_CELLS_UP, GOBP_NEGATIVE_REGULATION_OF_RNA_BIOSYNTHETIC_PROCESS, GSE32255_UNSTIM_VS_4H_LPS_STIM_DC_DN

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

GO Molecular Function (0):

GO Cellular Component (1): nucleus (GO:0005634)

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
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

176 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAGEB17	ZNF850	A8MQ14	507
MAGEB17	ZBED5	Q49AG3	478
MAGEB17	MOSPD2	Q8NHP6	475
MAGEB17	AP1S2	P56377	452
MAGEB17	SWT1	Q5T5J6	445
MAGEB17	BEND2	Q8NDZ0	429
MAGEB17	FMR1NB	Q8N0W7	428
MAGEB17	ASB9	Q96DX5	425
MAGEB17	PHTF1	Q9UMS5	414
MAGEB17	TRIML2	Q8N7C3	394
MAGEB17	SSX3	Q99909	374
MAGEB17	FANCB	Q8NB91	372
MAGEB17	CNIH3	Q8TBE1	371
MAGEB17	ZMYM1	Q5SVZ6	369
MAGEB17	DPEP3	Q9H4B8	368

IntAct

0 interactions, top by confidence:

BioGRID (1): MAGEB17 (Positive Genetic)

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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

129 predictions. Top by Δscore:

Variant	Effect	Δscore
X:16167781:AAGG:A	donor_loss	1.0000
X:16167782:AGGT:A	donor_loss	1.0000
X:16167783:GGT:G	donor_loss	1.0000
X:16167784:G:T	donor_loss	1.0000
X:16167785:T:A	donor_loss	0.9900
X:16167779:TCAAG:T	donor_gain	0.9800
X:16167784:G:GG	donor_gain	0.9700
X:16170326:T:A	acceptor_gain	0.9700
X:16170329:TCCA:T	acceptor_loss	0.9700
X:16167777:TATCA:T	donor_gain	0.9600
X:16167778:ATCAA:A	donor_gain	0.9600
X:16170332:A:AG	acceptor_gain	0.9500
X:16170333:G:GG	acceptor_gain	0.9500
X:16170333:GGT:G	acceptor_gain	0.9500
X:16167782:AG:A	donor_gain	0.9400
X:16167783:GG:G	donor_gain	0.9400
X:16170333:GGTGC:G	acceptor_gain	0.9400
X:16170332:AGGT:A	acceptor_gain	0.9300
X:16170333:GGTG:G	acceptor_gain	0.9300
X:16167714:G:GT	donor_gain	0.9200
X:16170332:AG:A	acceptor_gain	0.9100
X:16170333:GG:G	acceptor_gain	0.9100
X:16170391:C:CA	acceptor_gain	0.8400
X:16167771:GT:G	donor_gain	0.8300
X:16167772:TT:T	donor_gain	0.8300
X:16167772:T:G	donor_gain	0.8200
X:16167750:GC:G	donor_gain	0.8000
X:16167737:G:T	donor_gain	0.7500
X:16167573:GACAC:G	donor_gain	0.7200
X:16167722:G:T	donor_gain	0.7200

AlphaMissense

2209 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:16171199:T:A	W273R	0.980
X:16171199:T:C	W273R	0.980
X:16170866:T:C	F162L	0.979
X:16170868:T:A	F162L	0.979
X:16170868:T:G	F162L	0.979
X:16171194:T:C	F271S	0.976
X:16170842:A:C	S154R	0.971
X:16170844:C:A	S154R	0.971
X:16170844:C:G	S154R	0.971
X:16171001:A:C	S207R	0.971
X:16171003:C:A	S207R	0.971
X:16171003:C:G	S207R	0.971
X:16171247:T:C	F289L	0.968
X:16171249:T:A	F289L	0.968
X:16171249:T:G	F289L	0.968
X:16171201:G:C	W273C	0.963
X:16171201:G:T	W273C	0.963
X:16171202:G:C	G274R	0.962
X:16171193:T:C	F271L	0.961
X:16171195:C:A	F271L	0.961
X:16171195:C:G	F271L	0.961
X:16171231:A:C	K283N	0.959
X:16171231:A:T	K283N	0.959
X:16171203:G:A	G274D	0.945
X:16171048:G:C	W222C	0.941
X:16171048:G:T	W222C	0.941
X:16171119:T:A	V246D	0.934
X:16171131:T:C	L250S	0.933
X:16171056:T:C	L225P	0.932
X:16171230:A:T	K283I	0.932

dbSNP variants (sampled 300 via entrez): RS1000823851 (X:16171188 A>G), RS1000925813 (X:16170786 T>C), RS1000966987 (X:16168881 G>A), RS1001510017 (X:16166451 G>A), RS1001972277 (X:16170766 G>A,T), RS1002400962 (X:16170389 C>T), RS1002526062 (X:16166024 G>A), RS1003123478 (X:16171773 C>G,T), RS1005390874 (X:16171758 T>A), RS1005578475 (X:16167321 G>C), RS1005890247 (X:16171795 G>A), RS1006233409 (X:16167591 G>C), RS1006822540 (X:16169444 G>A), RS1006839963 (X:16167772 T>G), RS1007843849 (X:16170150 G>A)

Disease associations

OMIM: gene MIM:300763 | 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

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
bisphenol F	decreases expression	1
sodium arsenite	decreases expression	1
abrine	increases expression	1
(+)-JQ1 compound	decreases expression	1

Clinical trials (associated diseases)

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