Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10651
Gene name	Metaxin 2
Gene symbol	MTX2
Synonyms (NCBI Gene)	MDPSmetaxin-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

Show/Hide all (4)

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

Show/Hide all (81)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001401	Component	SAM complex	HDA	26477565
GO:0001401	Component	SAM complex	IBA
GO:0001401	Component	SAM complex	IEA
GO:0001401	Component	SAM complex	IPI	17510655
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005730	Component	Nucleolus	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	25997101
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	NAS	31387448
GO:0005741	Component	Mitochondrial outer membrane	TAS	10381257
GO:0006839	Process	Mitochondrial transport	IMP	32917887
GO:0006839	Process	Mitochondrial transport	TAS	10381257
GO:0007005	Process	Mitochondrion organization	IBA
GO:0007007	Process	Inner mitochondrial membrane organization	IC	26477565
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0045040	Process	Protein insertion into mitochondrial outer membrane	NAS	31387448
GO:0140275	Component	MIB complex	HDA	26477565

MIM	HGNC	e!Ensembl
608555	7506	ENSG00000128654

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

Interactions

View interactions

	KEGG
	Mitophagy - animal

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mandibuloacral dysplasia progeroid syndrome	Likely pathogenic; Pathogenic	rs936892236, rs1392596720, rs1575062987, rs1575058847, rs1575062905, rs768727228	RCV003388648 RCV001270621 RCV001270622 RCV001270624 RCV001270623 RCV001270625	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Progeroid mandibuloacral dysplasia	Pathogenic	rs1392596720, rs1575062987, rs1575058847, rs1575062905	RCV000993785 RCV000993788 RCV000993786 RCV000993787	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MANDIBULOACRAL DYSOSTOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MANDIBULOACRAL DYSPLASIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MANDIBULOACRAL DYSPLASIA ASSOCIATED TO MTX2	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROGNATHISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Stimulate	33742056	★★★★★ ★☆☆☆☆ Found in Text Mining only

MTX2 (metaxin 2)