MAGOHB mago homolog B, exon junction complex subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAGOHBprovided by HGNC
Official Full Name: mago homolog B, exon junction complex subunitprovided by HGNC
Primary source: HGNC:HGNC:25504
See related: Ensembl:ENSG00000111196 MIM:619552; AllianceGenome:HGNC:25504
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MGN2; mago; magoh
Summary: 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. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in endometrium (RPKM 3.2), appendix (RPKM 3.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (10599524..10613609, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (10472850..10486915, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (10756789..10766208, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MAGOH and MAGOHB Knockdown in Melanoma Cells Decreases Nonsense-Mediated Decay Activity and Promotes Apoptosis via Upregulation of GADD45A.
Title: MAGOH and MAGOHB Knockdown in Melanoma Cells Decreases Nonsense-Mediated Decay Activity and Promotes Apoptosis via Upregulation of GADD45A.
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
Title: Two mammalian MAGOH genes contribute to exon junction complex composition and nonsense-mediated decay.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Expression of HIV-1 Tat downregulates the abundance of mago-nashi homolog B (MAGOHB) in the nucleoli of Jurkat T-cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH94106 (e-PCR)
- UniSTS:90376

RH44698 (e-PCR)
- UniSTS:31538

SHGC-54535 (e-PCR)
- UniSTS:58487

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA export from nucleus	NAS Non-traceable Author Statement more info	PubMed
involved_in mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of mRNA processing	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of U2-type catalytic step 1 spliceosome	IDA Inferred from Direct Assay more info	PubMed
part_of U2-type precatalytic spliceosome	IDA Inferred from Direct Assay more info	PubMed
part_of catalytic step 2 spliceosome	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	NAS Non-traceable Author Statement more info	PubMed
part_of exon-exon junction complex	IBA Inferred from Biological aspect of Ancestor more info
part_of exon-exon junction complex	IDA Inferred from Direct Assay more info	PubMed
part_of exon-exon junction complex	ISS Inferred from Sequence or Structural Similarity more info
part_of exon-exon junction subcomplex mago-y14	IPI Inferred from Physical Interaction more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: protein mago nashi homolog 2

Names: mago homolog B, exon junction complex core component; mago-nashi homolog B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001300739.2 → NP_001287668.1 protein mago nashi homolog 2 isoform 2

See identical proteins and their annotated locations for NP_001287668.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' structure and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform (2).

Source sequence(s)

AC021049, BG497574, BU933036, DB340467

Consensus CDS

CCDS76532.1

UniProtKB/TrEMBL

F5H6P7

Conserved Domains (1) summary

cl03715
Location:1 → 102

Mago_nashi; Mago nashi proteins, integral members of the exon junction complex
NM_001319985.2 → NP_001306914.1 protein mago nashi homolog 2 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 5' region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform (2).

Source sequence(s)

AC021049, AF165518, BF667243, BG533740, CD357202

Consensus CDS

CCDS76532.1

UniProtKB/TrEMBL

F5H6P7

Related

ENSP00000437462.1, ENST00000539554.6

Conserved Domains (1) summary

cl03715
Location:1 → 102

Mago_nashi; Mago nashi proteins, integral members of the exon junction complex
NM_018048.5 → NP_060518.1 protein mago nashi homolog 2 isoform 1

See identical proteins and their annotated locations for NP_060518.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC021049, AF165518, BG533740, CD357202

Consensus CDS

CCDS8628.1

UniProtKB/Swiss-Prot

Q96A72

UniProtKB/TrEMBL

A0A023T6R1

Related

ENSP00000319240.2, ENST00000320756.7

Conserved Domains (1) summary

cd11295
Location:6 → 148

Mago_nashi; Mago nashi proteins, integral members of the exon junction complex

RNA

NR_135120.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC021049, BC000928, BG533740, CD357202
NR_135121.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (5) uses an alternate splice site in the 5' region and contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC021049, BC000928, BG533740, BG539870