MTX2 (metaxin 2)

Gene

• Entrez ID: 10651
• Gene name: Metaxin 2
• Gene symbol: MTX2
• Synonyms: MDPS, metaxin-2
• Chromosome: 2
• Chromosome location: 2q31.1
• Summary: The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1392596720	T>A,C	Pathogenic	Initiator codon variant, missense variant, 5 prime UTR variant
rs1575058847	AAGT>-	Pathogenic	Splice donor variant, intron variant
rs1575062905	G>C	Pathogenic	Splice acceptor variant, intron variant
rs1575062987	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1165815	hsa-miR-1304	CLIP-seq
MIRT1165816	hsa-miR-142-5p	CLIP-seq
MIRT1165817	hsa-miR-323-3p	CLIP-seq
MIRT1165818	hsa-miR-338-5p	CLIP-seq
MIRT1165819	hsa-miR-340	CLIP-seq
MIRT1165820	hsa-miR-3613-3p	CLIP-seq
MIRT1165821	hsa-miR-3660	CLIP-seq
MIRT1165822	hsa-miR-410	CLIP-seq
MIRT1165823	hsa-miR-4256	CLIP-seq
MIRT1165824	hsa-miR-4282	CLIP-seq
MIRT1165825	hsa-miR-4422	CLIP-seq
MIRT1165826	hsa-miR-4526	CLIP-seq
MIRT1165827	hsa-miR-4528	CLIP-seq
MIRT1165828	hsa-miR-4662a-3p	CLIP-seq
MIRT1165829	hsa-miR-607	CLIP-seq
MIRT2047970	hsa-miR-1297	CLIP-seq
MIRT2047971	hsa-miR-181a	CLIP-seq
MIRT2047972	hsa-miR-181b	CLIP-seq
MIRT2047973	hsa-miR-181c	CLIP-seq
MIRT2047974	hsa-miR-181d	CLIP-seq
MIRT2047975	hsa-miR-194	CLIP-seq
MIRT2047976	hsa-miR-26a	CLIP-seq
MIRT2047977	hsa-miR-26b	CLIP-seq
MIRT2047978	hsa-miR-3143	CLIP-seq
MIRT2047979	hsa-miR-4262	CLIP-seq
MIRT2047980	hsa-miR-4465	CLIP-seq
MIRT2047981	hsa-miR-543	CLIP-seq
MIRT1165829	hsa-miR-607	CLIP-seq
MIRT2047970	hsa-miR-1297	CLIP-seq
MIRT2047971	hsa-miR-181a	CLIP-seq
MIRT2047972	hsa-miR-181b	CLIP-seq
MIRT2047973	hsa-miR-181c	CLIP-seq
MIRT2047974	hsa-miR-181d	CLIP-seq
MIRT2047975	hsa-miR-194	CLIP-seq
MIRT2047976	hsa-miR-26a	CLIP-seq
MIRT2047977	hsa-miR-26b	CLIP-seq
MIRT2047978	hsa-miR-3143	CLIP-seq
MIRT2047979	hsa-miR-4262	CLIP-seq
MIRT2276762	hsa-miR-4276	CLIP-seq
MIRT1165824	hsa-miR-4282	CLIP-seq
MIRT2047980	hsa-miR-4465	CLIP-seq
MIRT2047981	hsa-miR-543	CLIP-seq
MIRT1165829	hsa-miR-607	CLIP-seq
MIRT2047970	hsa-miR-1297	CLIP-seq
MIRT2047971	hsa-miR-181a	CLIP-seq
MIRT2047972	hsa-miR-181b	CLIP-seq
MIRT2047973	hsa-miR-181c	CLIP-seq
MIRT2047974	hsa-miR-181d	CLIP-seq
MIRT2047975	hsa-miR-194	CLIP-seq
MIRT2047976	hsa-miR-26a	CLIP-seq
MIRT2047977	hsa-miR-26b	CLIP-seq
MIRT2047978	hsa-miR-3143	CLIP-seq
MIRT2047979	hsa-miR-4262	CLIP-seq
MIRT2047980	hsa-miR-4465	CLIP-seq
MIRT2047981	hsa-miR-543	CLIP-seq
MIRT2047970	hsa-miR-1297	CLIP-seq
MIRT2047971	hsa-miR-181a	CLIP-seq
MIRT2047972	hsa-miR-181b	CLIP-seq
MIRT2047973	hsa-miR-181c	CLIP-seq
MIRT2047974	hsa-miR-181d	CLIP-seq
MIRT2047975	hsa-miR-194	CLIP-seq
MIRT2047976	hsa-miR-26a	CLIP-seq
MIRT2047977	hsa-miR-26b	CLIP-seq
MIRT2047978	hsa-miR-3143	CLIP-seq
MIRT2047979	hsa-miR-4262	CLIP-seq
MIRT2047980	hsa-miR-4465	CLIP-seq
MIRT2047981	hsa-miR-543	CLIP-seq
MIRT2047970	hsa-miR-1297	CLIP-seq
MIRT2047971	hsa-miR-181a	CLIP-seq
MIRT2047972	hsa-miR-181b	CLIP-seq
MIRT2047973	hsa-miR-181c	CLIP-seq
MIRT2047974	hsa-miR-181d	CLIP-seq
MIRT2047975	hsa-miR-194	CLIP-seq
MIRT2047976	hsa-miR-26a	CLIP-seq
MIRT2047977	hsa-miR-26b	CLIP-seq
MIRT2047978	hsa-miR-3143	CLIP-seq
MIRT2047979	hsa-miR-4262	CLIP-seq
MIRT2047980	hsa-miR-4465	CLIP-seq
MIRT2575513	hsa-miR-4760-3p	CLIP-seq
MIRT2047981	hsa-miR-543	CLIP-seq
MIRT2575514	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001401	Component	SAM complex	HDA	26477565
GO:0001401	Component	SAM complex	IBA	21873635
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	25997101
GO:0005741	Component	Mitochondrial outer membrane	TAS	10381257
GO:0006839	Process	Mitochondrial transport	TAS	10381257
GO:0007005	Process	Mitochondrion organization	IBA	21873635
GO:0007007	Process	Inner mitochondrial membrane organization	IC	26477565
GO:0015031	Process	Protein transport	IEA
GO:0140275	Component	MIB complex	HDA	26477565

Other IDs

• MIM: 608555
• HGNC: 7506
• e!Ensembl: ENSG00000128654

Protein

• UniProt ID: O75431
• Protein name: Metaxin-2 (Mitochondrial outer membrane import complex protein 2)
• Protein function: Involved in transport of proteins into the mitochondrion.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10568	Tom37	41 → 162	Outer mitochondrial membrane transport complex protein	Family
  PF17171	GST_C_6	186 → 249	Glutathione S-transferase, C-terminal domain	Domain

• Sequence:

  MSLVAEAFVSQIAAAEPWPENATLYQQLKGEQILLSDNAASLAVQAFLQMCNLPIKVVCR
  ANAEYMSPSGKVPFIHVGNQVVSELGPIVQFVKAKGHSLSDGLEEVQKAEMKAYMELVNN
  MLLTAELYLQWCDEATVGEITHARYGSPYPWPLNHILAYQKQWEVKRKMKAIGWGKKTLD
  QVLEDVDQCCQALSQRLGTQPYFFNKQPTELDALVFGHLYTILTTQLTNDELSEKVKNYS
  NLLAFCRRIEQHYFEDRGKGRLS

• Sequence length: 263

Pathways

KEGG:

Mitophagy - animal

Associated diseases

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia	Alopecia		28196072