Mtx2 metaxin 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mtx2provided by MGI
Official Full Name: metaxin 2provided by MGI
Primary source: MGI:MGI:1859652
See related: Ensembl:ENSMUSG00000027099 AllianceGenome:MGI:1859652
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 1500012G02Rik
Summary: Predicted to be involved in mitochondrion organization. Predicted to act upstream of or within protein transport. Located in mitochondrion. Is expressed in central nervous system; embryo; and retina. Orthologous to human MTX2 (metaxin 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in adrenal adult (RPKM 50.4), duodenum adult (RPKM 32.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 C3; 2 44.13 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (74656156..74707092)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (74825812..74876748)

Chromosome 2 - NC_000068.8 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of MTX2 causes mitochondrial dysfunction, podocyte injury, nephrotic proteinuria and glomerulopathy in mice and patients.
Title: Loss of MTX2 causes mitochondrial dysfunction, podocyte injury, nephrotic proteinuria and glomerulopathy in mice and patients.
Exome sequencing analysis between SM/J and A/J mice identified 4 genes (Itga6, Zak, Gpr155, and Mtx2) with nonsynonymous coding SNPs. These four genes might be candidate genes for type 2 diabetes caused by gene-gene interactions.
Title: Searching for genomic region of high-fat diet-induced type 2 diabetes in mouse chromosome 2 by analysis of congenic strains.
Transcripts highly enriched in ovary; gene identified as candidate female fertility factor.
Title: Genomewide discovery and classification of candidate ovarian fertility genes in the mouse.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6)
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Mtx2 (e-PCR), detects polymorphism
- UniSTS:527430

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in mitochondrial transport	ISO Inferred from Sequence Orthology more info
involved_in mitochondrion organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of SAM complex	IBA Inferred from Biological aspect of Ancestor more info
part_of SAM complex	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: metaxin-2

Names: mitochondrial outer membrane import complex protein 2

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_016804.4 → NP_058084.3 metaxin-2

See identical proteins and their annotated locations for NP_058084.3

Status: VALIDATED

Source sequence(s)

AK083055, AK169048, BY126313

Consensus CDS

CCDS16148.1

UniProtKB/Swiss-Prot

O88441, Q3TFR2

UniProtKB/TrEMBL

Q3TI19, Q3TI40

Related

ENSMUSP00000028511.8, ENSMUST00000028511.8

Conserved Domains (3) summary

cd03211
Location:125 → 250

GST_C_Metaxin2; C-terminal, alpha helical domain of Metaxin 2

COG0625
Location:33 → 252

GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]

cd03079
Location:22 → 95

GST_N_Metaxin2; GST_N family, Metaxin subfamily, Metaxin 2; a metaxin 1 binding protein identified through a yeast two-hybrid system using metaxin 1 as the bait. Metaxin 2 shares sequence similarity with metaxin 1 but does not contain a C-terminal mitochondrial outer ...