MAGEB5

Summary

MAGEB5 (MAGE family member B5, HGNC:23795) is a protein-coding gene on chromosome Xp21.3, encoding Melanoma-associated antigen B5 (Q9BZ81).

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

Source: NCBI Gene 347541 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001271752

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23795
Approved symbol	MAGEB5
Name	MAGE family member B5
Location	Xp21.3
Locus type	gene with protein product
Status	Approved
Aliases	MAGE-B5, CT3.3
Ensembl gene	ENSG00000188408
Ensembl biotype	protein_coding
OMIM	300466
Entrez	347541

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000602297

RefSeq mRNA: 1 — MANE Select: NM_001271752 NM_001271752

CCDS: CCDS65233

Canonical transcript exons

ENST00000602297 — 2 exons

Exon	Start	End
ENSE00003296873	26217085	26218270
ENSE00003435263	26216169	26216198

Expression profiles

Bgee: expression breadth tissue_specific, 3 present calls, max score 40.78.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	40.78	gold quality
testis	UBERON:0000473	40.34	gold quality
sural nerve	UBERON:0015488	39.18	gold quality
bone marrow cell	CL:0002092	38.42	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
right testis	UBERON:0004534	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	32.90	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
liver	UBERON:0002107	29.13	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
gall bladder	UBERON:0002110	28.78	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	27.56	gold quality
tonsil	UBERON:0002372	27.05	gold quality
leukocyte	CL:0000738	26.67	gold quality
monocyte	CL:0000576	26.58	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
placenta	UBERON:0001987	25.81	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality
blood	UBERON:0000178	25.70	gold quality
muscle of leg	UBERON:0001383	25.01	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.15

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

10 targeting MAGEB5, 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-4795-3P	100.00	74.62	4024
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-6832-3P	99.52	70.44	1726
HSA-MIR-138-2-3P	98.91	68.33	1643
HSA-MIR-605-5P	98.79	68.24	1161
HSA-MIR-188-5P	97.89	67.01	756
HSA-MIR-6866-3P	97.38	66.94	748

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ndnl2	ENSDARG00000058212
mus_musculus	Mageb5	ENSMUSG00000061392
mus_musculus	Mageb5b	ENSMUSG00000064129
rattus_norvegicus	Mageb5	ENSRNOG00000003110
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), 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 B5 — Q9BZ81 (reviewed: Q9BZ81)

Alternative names: Cancer/testis antigen 3.3, MAGE-B5 antigen

All UniProt accessions (1): Q9BZ81

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Expressed in testis. Not expressed in other normal tissues, but is expressed in tumors of different histological origins.

RefSeq proteins (1): NP_001258681* (*=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 (5 total): compositionally biased region 2, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BZ81-F1	80.80	0.48

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 17 (showing top): chrXp21, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, MIR4795_3P, GSE13306_TREG_VS_TCONV_SPLEEN_UP, GSE27786_CD8_TCELL_VS_NKTCELL_DN, GSE27786_NKCELL_VS_NKTCELL_DN, GOBP_NEGATIVE_REGULATION_OF_RNA_BIOSYNTHETIC_PROCESS, GSE39820_TGFBETA1_VS_TGFBETA3_IN_IL6_IL23A_TREATED_CD4_TCELL_UP, GSE2770_TGFB_AND_IL4_VS_TGFB_AND_IL12_TREATED_ACT_CD4_TCELL_6H_DN, GSE8835_HEALTHY_VS_CLL_CD4_TCELL_DN, GSE21670_TGFB_VS_IL6_TREATED_CD4_TCELL_DN, GSE16385_ROSIGLITAZONE_VS_UNTREATED_IFNG_TNF_STIM_MACROPHAGE_DN, GSE24972_WT_VS_IRF8_KO_SPLEEN_FOLLICULAR_BCELL_UP, GSE30971_2H_VS_4H_LPS_STIM_MACROPHAGE_WBP7_KO_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

268 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAGEB5	C9orf153	Q5TBE3	541
MAGEB5	OR1M1	Q8NGA1	507
MAGEB5	ANKRD13C-DT	Q9XRX5	506
MAGEB5	F2Z2I4	F2Z2I4	418
MAGEB5	TRIM42	Q8IWZ5	410
MAGEB5	CCDC125	Q86Z20	400
MAGEB5	HHLA1	C9JL84	399
MAGEB5	FAM81A	Q8TBF8	394
MAGEB5	NUP210L	Q5VU65	377
MAGEB5	GAGE4	P0DSO3	370
MAGEB5	DNHD1	Q96M86	348
MAGEB5	SDE2	Q6IQ49	337
MAGEB5	CSAG1	Q6PB30	336
MAGEB5	MAGEC3	Q8TD91	328
MAGEB5	CCDC33	Q8N5R6	324

IntAct

2 interactions, top by confidence:

A	B	Type	Score
MAGEB5	MYH1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (1): MAGEB5 (Proximity Label-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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

220 predictions. Top by Δscore:

Variant	Effect	Δscore
X:26217084:GA:G	acceptor_gain	0.9600
X:26216194:GACAG:G	donor_loss	0.9000
X:26216195:ACAG:A	donor_loss	0.9000
X:26216196:CAGG:C	donor_loss	0.9000
X:26216197:AG:A	donor_loss	0.9000
X:26216198:GG:G	donor_loss	0.9000
X:26216199:G:A	donor_loss	0.9000
X:26216200:T:TC	donor_loss	0.9000
X:26216198:GGT:G	donor_gain	0.8900
X:26216196:CAGGT:C	donor_gain	0.8800
X:26216197:AGGTA:A	donor_gain	0.8800
X:26216199:GT:G	donor_gain	0.8800
X:26216200:T:TG	donor_gain	0.8800
X:26216201:AA:A	donor_loss	0.8800
X:26216195:ACAGG:A	donor_gain	0.8400
X:26217083:A:AG	acceptor_gain	0.8300
X:26217084:G:GG	acceptor_gain	0.8300
X:26216201:A:AC	donor_gain	0.8100
X:26216202:A:AC	donor_gain	0.7600
X:26217230:GGGGA:G	acceptor_gain	0.7300
X:26216203:G:C	donor_gain	0.7200
X:26217229:T:A	acceptor_gain	0.7000
X:26217229:TGGGG:T	acceptor_gain	0.6700
X:26216199:G:GG	donor_gain	0.6600
X:26216202:AGAA:A	donor_loss	0.6500
X:26217028:AGT:A	acceptor_gain	0.6500
X:26217029:GTG:G	acceptor_gain	0.6500
X:26217028:A:AG	acceptor_gain	0.6200
X:26217029:G:GG	acceptor_gain	0.6200
X:26217079:TATCA:T	acceptor_loss	0.6100

AlphaMissense

1836 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:26217578:T:C	F93L	0.903
X:26217580:T:A	F93L	0.903
X:26217580:T:G	F93L	0.903
X:26217464:T:C	F55L	0.863
X:26217466:C:A	F55L	0.863
X:26217466:C:G	F55L	0.863
X:26217449:T:C	F50L	0.859
X:26217451:C:A	F50L	0.859
X:26217451:C:G	F50L	0.859
X:26217533:T:C	F78L	0.833
X:26217535:T:A	F78L	0.833
X:26217535:T:G	F78L	0.833
X:26217905:T:C	F202L	0.825
X:26217907:C:A	F202L	0.825
X:26217907:C:G	F202L	0.825
X:26217995:T:C	F232L	0.804
X:26217997:C:A	F232L	0.804
X:26217997:C:G	F232L	0.804
X:26217764:T:C	F155L	0.766
X:26217766:T:A	F155L	0.766
X:26217766:T:G	F155L	0.766
X:26217943:G:C	K214N	0.735
X:26217943:G:T	K214N	0.735
X:26217722:T:C	F141L	0.710
X:26217724:C:A	F141L	0.710
X:26217724:C:G	F141L	0.710
X:26217911:T:A	W204R	0.704
X:26217911:T:C	W204R	0.704
X:26217632:A:C	S111R	0.686
X:26217634:C:A	S111R	0.686

dbSNP variants (sampled 300 via entrez): RS1002507335 (X:26214480 T>A,C), RS1003643226 (X:26217875 G>C), RS1003705237 (X:26216880 T>C), RS1004475157 (X:26214304 T>C), RS1008316514 (X:26216148 G>A), RS1010317152 (X:26216794 C>T), RS1010668004 (X:26216217 A>G), RS1010723268 (X:26217476 C>G), RS1011696379 (X:26215844 T>C), RS1011726397 (X:26214427 A>G), RS1011951050 (X:26216818 T>C), RS1012917697 (X:26215364 A>G,T), RS1014171460 (X:26217482 A>AT), RS1014638986 (X:26217924 C>T), RS1014740138 (X:26216999 T>C)

Disease associations

OMIM: gene MIM:300466 | 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)

Clinical trials (associated diseases)

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