MAGOHB

gene
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Also known as FLJ10292MGN2

Summary

MAGOHB (mago homolog B, exon junction complex subunit, HGNC:25504) is a protein-coding gene on chromosome 12p13.2, encoding Protein mago nashi homolog 2 (Q96A72). Required for pre-mRNA splicing as component of the spliceosome.

Enables RNA binding activity. Involved in mRNA splicing, via spliceosome and nuclear-transcribed mRNA catabolic process, nonsense-mediated decay. Located in nucleus. Part of U2-type catalytic step 1 spliceosome; U2-type precatalytic spliceosome; and exon-exon junction subcomplex mago-y14.

Source: NCBI Gene 55110 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 35 total
  • MANE Select transcript: NM_018048

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:25504
Approved symbolMAGOHB
Namemago homolog B, exon junction complex subunit
Location12p13.2
Locus typegene with protein product
StatusApproved
AliasesFLJ10292, MGN2
Ensembl geneENSG00000111196
Ensembl biotypeprotein_coding
OMIM619552
Entrez55110

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 5 protein_coding, 5 nonsense_mediated_decay, 3 retained_intron

ENST00000320756, ENST00000398874, ENST00000537852, ENST00000539554, ENST00000540074, ENST00000543929, ENST00000544176, ENST00000544850, ENST00000545236, ENST00000546173, ENST00000625272, ENST00000903320, ENST00000939461

RefSeq mRNA: 3 — MANE Select: NM_018048 NM_001300739, NM_001319985, NM_018048

CCDS: CCDS76532, CCDS8628

Canonical transcript exons

ENST00000320756 — 5 exons

ExonStartEnd
ENSE000022905981061343910613609
ENSE000035414661060983110609941
ENSE000035519211060785410607936
ENSE000035933921061062210610680
ENSE000037512971060419310606374

Expression profiles

Bgee: expression breadth ubiquitous, 210 present calls, max score 92.72.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.0767 / max 975.0310, expressed in 1810 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
12953315.75841789
12953414.31831792

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
calcaneal tendonUBERON:000370192.72gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047391.89gold quality
ganglionic eminenceUBERON:000402390.91gold quality
ventricular zoneUBERON:000305390.43gold quality
stromal cell of endometriumCL:000225589.61gold quality
sural nerveUBERON:001548889.49gold quality
islet of LangerhansUBERON:000000689.06gold quality
cortical plateUBERON:000534388.55gold quality
monocyteCL:000057688.32gold quality
mononuclear cellCL:000084288.10gold quality
leukocyteCL:000073888.02gold quality
rectumUBERON:000105287.70gold quality
adenohypophysisUBERON:000219687.03gold quality
mucosa of transverse colonUBERON:000499186.80gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099186.77gold quality
right lobe of liverUBERON:000111486.03gold quality
body of pancreasUBERON:000115086.01gold quality
adrenal tissueUBERON:001830385.39gold quality
pancreasUBERON:000126485.33gold quality
ectocervixUBERON:001224985.28gold quality
left coronary arteryUBERON:000162685.23gold quality
lower esophagus mucosaUBERON:003583485.08gold quality
body of uterusUBERON:000985385.07gold quality
colonic epitheliumUBERON:000039784.97gold quality
C1 segment of cervical spinal cordUBERON:000646984.78gold quality
endocervixUBERON:000045884.76gold quality
right adrenal glandUBERON:000123384.73gold quality
left ovaryUBERON:000211984.72gold quality
left adrenal glandUBERON:000123484.52gold quality
pituitary glandUBERON:000000784.51gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-HCAD-13yes19.96
E-ANND-3yes6.42
E-MTAB-6379no705.81
E-GEOD-124858no169.23

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): KMT2A

miRNA regulators (miRDB)

110 targeting MAGOHB, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-4476100.0068.182030
HSA-MIR-6876-5P100.0067.682126
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-29A-3P100.0073.111835
HSA-MIR-29B-3P100.0073.181833
HSA-MIR-29C-3P100.0073.151833
HSA-MIR-4262100.0073.263931
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-181A-5P99.9972.962995
HSA-MIR-181B-5P99.9972.972996
HSA-MIR-181C-5P99.9972.952996
HSA-MIR-181D-5P99.9973.042997
HSA-MIR-548N99.9871.944170
HSA-MIR-539-3P99.9870.741616
HSA-MIR-485-3P99.9870.681585
HSA-MIR-569699.9872.364487
HSA-MIR-314899.9775.066478
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345
HSA-MIR-23A-3P99.9574.243163
HSA-MIR-23B-3P99.9574.243163
HSA-MIR-23C99.9573.923192
HSA-MIR-651-3P99.9473.485177
HSA-MIR-144-3P99.9473.982698
HSA-MIR-539-5P99.9370.302855

Literature-anchored findings (GeneRIF, showing 2)

  • findings show 2 genes MAGOH and MAGOHB are expressed in mammals; in macrophages, expression of MAGOHB but not MAGOH mRNA increases after LPS stimulation; both MAGOH proteins interact with other exon junction complex (EJC) components, incorporate into mRNA-bound EJCs and activate nonsense-mediated decay (PMID:23917022)
  • MAGOH and MAGOHB Knockdown in Melanoma Cells Decreases Nonsense-Mediated Decay Activity and Promotes Apoptosis via Upregulation of GADD45A. (PMID:36497117)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriomagohENSDARG00000038635
mus_musculusMagohbENSMUSG00000030188
rattus_norvegicusMagohbENSRNOG00000010316
drosophila_melanogastermagoFBGN0002736
caenorhabditis_elegansmag-1WBGENE00003123

Paralogs (1): MAGOH (ENSG00000162385)

Protein

Protein identifiers

Protein mago nashi homolog 2Q96A72 (reviewed: Q96A72)

All UniProt accessions (6): Q96A72, A0A023T6R1, F5H124, F5H3U9, F5H6N1, F5H6P7

UniProt curated annotations — full annotation on UniProt →

Function. Required for pre-mRNA splicing as component of the spliceosome. Plays a redundant role with MAGOH in the exon junction complex and in the nonsense-mediated decay (NMD) pathway.

Subunit / interactions. Component of the pre-catalytic, catalytic and post-catalytic spliceosome complexes. Heterodimer with RBM8A. Core component of the mRNA splicing-dependent exon junction complex (EJC); the core complex contains CASC3, EIF4A3, MAGOH or MAGOHB, and RBM8A.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitous.

Similarity. Belongs to the mago nashi family.

RefSeq proteins (3): NP_001287668, NP_001306914, NP_060518* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR004023Mago_nashiFamily
IPR036605Mago_nashi_sfHomologous_superfamily

Pfam: PF02792

UniProt features (16 total): strand 7, helix 5, initiator methionine 1, chain 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

4 structures.

PDBMethodResolution (Å)
6ICZELECTRON MICROSCOPY3
6QDVELECTRON MICROSCOPY3.3
5XJCELECTRON MICROSCOPY3.6
5YZGELECTRON MICROSCOPY4.1

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96A72-F193.610.86

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): 2

Function

Pathways and Gene Ontology

Reactome pathways

17 pathways

IDPathway
R-HSA-159236Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72163mRNA Splicing - Major Pathway
R-HSA-72187mRNA 3’-end processing
R-HSA-9010553Regulation of expression of SLITs and ROBOs
R-HSA-975957Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
R-HSA-73856RNA Polymerase II Transcription Termination
R-HSA-1266738Developmental Biology
R-HSA-376176Signaling by ROBO receptors
R-HSA-422475Axon guidance
R-HSA-72172mRNA Splicing
R-HSA-72202Transport of Mature Transcript to Cytoplasm
R-HSA-72203Processing of Capped Intron-Containing Pre-mRNA
R-HSA-73857RNA Polymerase II Transcription
R-HSA-74160Gene expression (Transcription)
R-HSA-8953854Metabolism of RNA
R-HSA-927802Nonsense-Mediated Decay (NMD)
R-HSA-9675108Nervous system development

MSigDB gene sets: 244 (showing top): GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NUCLEAR_TRANSPORT, KESHELAVA_MULTIPLE_DRUG_RESISTANCE, MARTINEZ_RB1_TARGETS_DN, GOBP_REGULATION_OF_CATABOLIC_PROCESS, KORKOLA_EMBRYONAL_CARCINOMA_UP, REACTOME_MRNA_3_END_PROCESSING, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, RAHMAN_TP53_TARGETS_PHOSPHORYLATED, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, GOBP_RNA_SPLICING

GO Biological Process (8): nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184), mRNA splicing, via spliceosome (GO:0000398), mRNA export from nucleus (GO:0006406), RNA splicing (GO:0008380), regulation of mRNA processing (GO:0050684), regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000622), mRNA processing (GO:0006397), mRNA transport (GO:0051028)

GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (10): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), exon-exon junction complex (GO:0035145), neuronal cell body (GO:0043025), U2-type precatalytic spliceosome (GO:0071005), U2-type catalytic step 1 spliceosome (GO:0071006), catalytic step 2 spliceosome (GO:0071013), exon-exon junction subcomplex mago-y14 (GO:1990501), spliceosomal complex (GO:0005681)

Reactome top-level categories

Rollup of top-11 pathways:

CategoryPathways
Processing of Capped Intron-Containing Pre-mRNA3
Metabolism of RNA2
Transport of Mature Transcript to Cytoplasm1
mRNA Splicing1
Signaling by ROBO receptors1
Nonsense-Mediated Decay (NMD)1
RNA Polymerase II Transcription1
Axon guidance1
Nervous system development1
Gene expression (Transcription)1
Developmental Biology1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
mRNA processing2
RNA processing2
cellular anatomical structure2
nuclear protein-containing complex2
U2-type spliceosomal complex2
U2 snRNP2
nuclear-transcribed mRNA catabolic process1
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile1
RNA export from nucleus1
gene expression1
mRNA transport1
regulation of mRNA metabolic process1
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay1
regulation of mRNA catabolic process1
mRNA metabolic process1
RNA transport1
nucleic acid binding1
binding1
intracellular membrane-bounded organelle1
nuclear lumen1
cytoplasm1
somatodendritic compartment1
cell body1
U1 snRNP1
U4/U6 x U5 tri-snRNP complex1
precatalytic spliceosome1
U6 snRNP1
catalytic step 1 spliceosome1
Prp19 complex1
spliceosomal complex1
U5 snRNP1
catalytic complex1
exon-exon junction complex1
ATPase inhibitor complex1
ribonucleoprotein complex1

Protein interactions and networks

STRING

1914 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
MAGOHBCASC3O15234999
MAGOHBEIF4A3P38919999
MAGOHBRBM8AQ9Y5S9999
MAGOHBUPF3AQ9H1J1969
MAGOHBPYM1Q9BRP8964
MAGOHBUPF3BQ9BZI7962
MAGOHBRNPS1Q15287960
MAGOHBALYREFQ86V81894
MAGOHBEIF4A1P04765868
MAGOHBUPF1Q92900846
MAGOHBSRRM1Q8IYB3813
MAGOHBUPF2Q9HAU5808
MAGOHBEIF4A2Q14240801
MAGOHBDDX39BQ13838771
MAGOHBNCBP1Q09161752

IntAct

290 interactions, top by confidence:

ABTypeScore
MAGOHBRBM8Apsi-mi:“MI:0915”(physical association)0.890
IKZF3MAGOHBpsi-mi:“MI:0915”(physical association)0.780
MAGOHBIKZF3psi-mi:“MI:0915”(physical association)0.780
MAGOHBCCDC102Bpsi-mi:“MI:0915”(physical association)0.720
MAGOHBGOLGA2psi-mi:“MI:0915”(physical association)0.720
CALCOCO2MAGOHBpsi-mi:“MI:0915”(physical association)0.720
ZNF398MAGOHBpsi-mi:“MI:0915”(physical association)0.720
CCDC102BMAGOHBpsi-mi:“MI:0915”(physical association)0.720
MAGOHBCALCOCO2psi-mi:“MI:0915”(physical association)0.720
MAGOHBZNF398psi-mi:“MI:0915”(physical association)0.720
GOLGA2MAGOHBpsi-mi:“MI:0915”(physical association)0.720
MAGOHBAMOTL2psi-mi:“MI:0915”(physical association)0.670
MAGOHBHMG20Apsi-mi:“MI:0915”(physical association)0.670
MAGOHBTRIM42psi-mi:“MI:0915”(physical association)0.560
MAGOHBZNF250psi-mi:“MI:0915”(physical association)0.560
MAGOHBTCF4psi-mi:“MI:0915”(physical association)0.560
MAGOHBRBMXpsi-mi:“MI:0915”(physical association)0.560

BioGRID (201): MAGOHB (Two-hybrid), MAGOHB (Two-hybrid), MAGOHB (Two-hybrid), MAGOHB (Two-hybrid), MAGOHB (Two-hybrid), MAGOHB (Two-hybrid), MAGOHB (Two-hybrid), MAGOHB (Two-hybrid), MAGOHB (Two-hybrid), MAGOHB (Two-hybrid), ZNF398 (Two-hybrid), ZNF250 (Two-hybrid), CCDC102B (Two-hybrid), KRT40 (Two-hybrid), TRIM42 (Two-hybrid)

ESM2 similar proteins: A0A0P0XB70, A3DGF9, A5VPY5, A6X1N2, A9CJB1, A9MAI1, B0CLD1, B2J6S5, B2S545, B9ENE7, B9JVE7, C0RIE1, F1SVL1, O23676, O28269, O34834, O42149, O43037, O65806, P40207, P41063, P49028, P49029, P49030, P50594, P59327, P61326, P61327, Q0VC92, Q10YT5, Q11JK4, Q163Q2, Q27W02, Q2YNC7, Q39QA9, Q3ZBV3, Q55E21, Q566Y8, Q57DU9, Q5LPR5

Diamond homologs: A0A0P0XB70, B9ENE7, O23676, O42149, O43037, O65806, P49028, P49029, P49030, P50594, P61326, P61327, Q0VC92, Q27W02, Q3ZBV3, Q55E21, Q566Y8, Q96A72, Q9CQL1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 87 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Processing of Capped Intron-Containing Pre-mRNA610.7×3e-03
mRNA Splicing - Major Pathway67.1×9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance16
Likely benign0
Benign1

Top pathogenic / likely-pathogenic (0)

SpliceAI

993 predictions. Top by Δscore:

VariantEffectΔscore
12:10607852:A:ACdonor_gain1.0000
12:10607853:C:CCdonor_gain1.0000
12:10609827:AAACC:Adonor_loss1.0000
12:10609828:AAC:Adonor_loss1.0000
12:10609829:A:ACdonor_gain1.0000
12:10609830:C:CCdonor_gain1.0000
12:10609830:C:Gdonor_loss1.0000
12:10609937:TAAGC:Tacceptor_gain1.0000
12:10609938:AAGC:Aacceptor_gain1.0000
12:10609939:AGC:Aacceptor_gain1.0000
12:10609940:GCC:Gacceptor_loss1.0000
12:10609942:C:CCacceptor_gain1.0000
12:10609942:CTA:Cacceptor_loss1.0000
12:10609943:T:Aacceptor_loss1.0000
12:10610617:CTTA:Cdonor_loss1.0000
12:10610618:TTA:Tdonor_loss1.0000
12:10610619:TA:Tdonor_loss1.0000
12:10610620:A:ACdonor_gain1.0000
12:10610620:A:Tdonor_loss1.0000
12:10610620:ACCT:Adonor_gain1.0000
12:10610621:C:CAdonor_loss1.0000
12:10610621:C:CCdonor_gain1.0000
12:10610621:CCT:Cdonor_gain1.0000
12:10610621:CCTC:Cdonor_gain1.0000
12:10610676:CTTTC:Cacceptor_gain1.0000
12:10610677:TTTC:Tacceptor_gain1.0000
12:10610679:TCC:Tacceptor_loss1.0000
12:10610681:C:CCacceptor_gain1.0000
12:10610690:G:GCacceptor_gain1.0000
12:10613401:C:Adonor_gain1.0000

AlphaMissense

986 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
12:10606282:G:TP147Q1.000
12:10606283:G:AP147S1.000
12:10606290:C:AK144N1.000
12:10606290:C:GK144N1.000
12:10606293:G:CF143L1.000
12:10606293:G:TF143L1.000
12:10606295:A:GF143L1.000
12:10606309:A:GL138P1.000
12:10606311:A:CS137R1.000
12:10606311:A:TS137R1.000
12:10606313:T:GS137R1.000
12:10606318:A:TV135D1.000
12:10606323:A:CC133W1.000
12:10606325:A:GC133R1.000
12:10606326:T:AK132N1.000
12:10606326:T:GK132N1.000
12:10606327:T:AK132I1.000
12:10606360:A:GL121P1.000
12:10606363:C:TG120D1.000
12:10606364:C:GG120R1.000
12:10607866:A:TV112E1.000
12:10607881:C:TG107D1.000
12:10607882:C:GG107R1.000
12:10607886:T:AK105N1.000
12:10607886:T:GK105N1.000
12:10607887:T:AK105I1.000
12:10607888:T:CK105E1.000
12:10607899:A:GF101S1.000
12:10607930:C:TE91K1.000
12:10607932:A:GL90P1.000

dbSNP variants (sampled 300 via entrez): RS1000139915 (12:10615058 C>G), RS1000323101 (12:10599727 T>C), RS1000426790 (12:10614576 G>A,T), RS1000609898 (12:10599499 G>A,C), RS1000835038 (12:10610146 C>T), RS1000990070 (12:10610454 G>A,T), RS1001078142 (12:10603531 C>A), RS1001184863 (12:10614828 G>A,C), RS1001467364 (12:10601319 C>G), RS1001493014 (12:10602667 A>T), RS1001659776 (12:10607221 G>A), RS1001700288 (12:10608609 A>AC), RS1002215849 (12:10613643 G>A), RS1002303093 (12:10610038 G>A), RS1002347273 (12:10602371 C>A,T)

Disease associations

OMIM: gene MIM:619552 | 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

32 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
bisphenol Aaffects splicing, decreases expression, increases expression3
(+)-JQ1 compounddecreases expression2
Phenylmercuric Acetateaffects cotreatment, decreases expression2
aristolochic acid Idecreases expression, increases expression1
GSK-J4decreases expression1
methylmercuric chloridedecreases expression1
triphenyl phosphateaffects expression1
arseniteaffects binding, increases reaction1
mono-(2-ethylhexyl)phthalatedecreases expression1
butyraldehydedecreases expression1
pentanaldecreases expression1
yessotoxindecreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
dorsomorphinaffects cotreatment, decreases expression1
NSC 689534affects binding, decreases expression1
PP242increases expression1
Resveratrolaffects cotreatment, increases expression1
Sunitinibdecreases expression1
Vorinostatincreases expression1
Benzo(a)pyrenedecreases methylation1
Copperaffects binding, decreases expression1
Coumestrolaffects cotreatment, increases expression1
Dichlorodiphenyl Dichloroethyleneincreases expression1
Doxorubicindecreases expression1
Ivermectindecreases expression1
Leadincreases expression1
Nickelincreases expression1
Thiramdecreases expression1
Urethanedecreases expression1
Valproic Aciddecreases expression1

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.