MTX2 - metaxin 2 Gene

Also Known as MDPS; metaxin-2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10651

About MTX2

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:176,269,442-176,338,025 (from NCBI)

This gene has 5 transcripts (splice variants), 207 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 27.0), adrenal (RPKM 14.9) and 25 other tissues.

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 associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jun 2009]

MTX2 Products (4)

mRNA Protein Name
NM_001006635.3 NP_001006636.1 metaxin-2 isoform 2
NM_001319097.2 NP_001306026.1 metaxin-2 isoform 3
NM_001319098.2 NP_001306027.1 metaxin-2 isoform 4
NM_006554.5 NP_006545.1 metaxin-2 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in mitochondrial transport IMP
IMP: Inferred from mutant phenotype
32917887 GOA
Cellular Component GO Annotation Evidence Verweise Source
part of SAM complex IPI
IPI: Inferred from physical interaction
17510655 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
25997101 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MTX2 Protein Structure

Tom37

Tom37: Outer mitochondrial membrane transport complex protein (39 - 92)

GST_C_3

GST_C_3: Glutathione S-transferase, C-terminal domain (127 - 251)

  • 0
  • 100
  • 200
  • 263 a.a.
Protein Preferred Names Protein Names

metaxin-2

  • mitochondrial outer membrane import complex protein 2

MTX2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
MTX2 O75431 RHOH Homo sapiens Q15669
Y2H Prey Pooling
32296183
Intra
MTX2 O75431 RHOH Homo sapiens Q15669
Validated Y2H
32296183
Intra
MTX2 O75431 RHOH Homo sapiens Q15669
Y2H Array
32296183
Intra
MTX2 O75431 C1QTNF2 Homo sapiens Q9BXJ5
Y2H Prey Pooling
32296183
Intra
MTX2 O75431 C1QTNF2 Homo sapiens Q9BXJ5
Validated Y2H
32296183
Intra
MTX2 O75431 C1QTNF2 Homo sapiens Q9BXJ5
Y2H Array
32296183
Intra
MTX2 O75431 TADA2A Homo sapiens O75478
Y2H Array
25416956
Intra
MTX2 O75431 TADA2A Homo sapiens O75478
Y2H Prey Pooling
25416956
Intra
MTX2 O75431 KASH5 Homo sapiens Q8N6L0
Y2H Prey Pooling
32296183
Intra
MTX2 O75431 KASH5 Homo sapiens Q8N6L0
Validated Y2H
32296183
Intra
MTX2 O75431 KASH5 Homo sapiens Q8N6L0
Y2H Array
32296183
Intra
MTX2 O75431 KASH5 Homo sapiens Q8N6L0
Y2H Array
25416956
Intra
MTX2 O75431 UBQLN2 Homo sapiens Q9UHD9
Validated Y2H
32296183
Intra
MTX2 O75431 UBQLN2 Homo sapiens Q9UHD9
Y2H Prey Pooling
32296183
Intra
MTX2 O75431 UBQLN2 Homo sapiens Q9UHD9
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Mandibuloacral Dysplasia Progeroid Syndrome

  • MDPS

  • Progeroid Mandibuloacral Dysplasia
Pigmentation Anomaly Of The Skin

  • Abnormality Of Skin Pigmentation

  • Skin Pigmentation Disorders

  • Skin Pigmentation

  • Dyschromia

  • Skin Colour Abnormality

  • Discolouration Of Skin
Mandibuloacral Dysplasia With Type A Lipodystrophy

  • Mandibuloacral Dysplasia

  • MADA

  • Lipodystrophy, Type A, Associated With Mandibuloacral Dysplasia

  • Craniomandibular Dermatodysostosis

  • Mad

  • Mandibuloacral Dysostosis

  • Mandibuloacral Dysplasia Type A Lipodystrophy

  • Lipodystrophy Type A Associated With Mandibuloacral Dysplasia

  • Mandibuloacral Dysplasia With Type A Lipodystrophy Atypical

  • Tendinous Calcinosis Arthropathy And Progeroid Features

  • Mandibuloacral Dysplasia With Type A Lipodystrophy, Atypical

  • Dysplasia, Mandibuloacral

  • Dysplasia, Mandibuloacral, With Type A Lipodystrophy
Hypertension, Essential

  • Essential Hypertension

  • Hypertension

  • High Blood Pressure

  • Hypertension, Essential, Susceptibility To

  • Hypertensive Disease

  • Primary Hypertension

  • EHT

  • Hypertension, Salt-Sensitive Essential, Susceptibility To

  • Hyperpiesia

  • Idiopathic Hypertension

  • Hypertensive Disorder

  • Hypertension, Essential, Susceptibility To, 3

  • Hypertension, Essential 3

  • Hypertension, Essential, Salt-Sensitive

  • Hypertension, Essential, Susceptibility To, 6

  • Hypertension, Essential 6

  • Hypertension, Salt-Sensitive Essential

  • Hypertension, Susceptibility To

  • Hypertension, Essential, Susceptibility To, 4

  • Hypertension, Essential 4

  • Hypertension, Essential, Susceptibility To, 2

  • Hypertension, Essential 2

  • Hypertension, Essential, Susceptibility To, 1

  • Hypertension, Essential 1

  • Hypertension, Essential, Susceptibility To, 5

  • Hypertension, Essential 5

  • Htn

  • Vascular Hypertensive Disorder

  • Systemic Primary Arterial Hypertension

  • Hbp - [High Blood Pressure]

  • Systemic Arterial Hypertensive Disorder

  • Elevated Blood Pressure

  • Arterial Hypertension Nos

  • Hypertension Nos

  • Benign Hypertension

  • Systemic Arterial Hypertension

  • Systemic Hypertension

  • Artery Htn

  • Benign Htn

  • Vascular Htn

  • Vascular Hypertension

  • Cholesterol Hypertension

  • Cholesterol Htn

  • Idiopathic Htn

  • Malignant Hypertension

  • Malignant Htn

  • Raised Blood Pressure

  • Cardiovascular Hypertension

  • Primary Htn - [Hypertension]

  • High Arterial Tension

  • High Blood Pressure Disorder

  • Ht - [Hypertension]

  • Htn - [Hypertension]

  • Hypertensive Vascular Disease

  • Hypertensive Vascular Degeneration
Cranioectodermal Dysplasia 2

  • CED2

  • Sensenbrenner Syndrome 2

  • Dysplasia, Cranioectodermal, Type 2
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome

  • Foxp1 Syndrome

  • Mental Retardation With Language Impairment And With Or Without Autistic Features

  • Foxp1 Related Global Developmental Delay, Intellectual Disability And Speech Defects

  • Intellectual Disability With Language Impairment And With Or Without Autistic Features
Acroosteolysis

  • Acro-Osteolysis
Progeroid Syndrome
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS08829 MTX2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus MTX2 VGNC VGNC:68356
Rattus norvegicus MTX2 RGD RGD:1306473
Mus musculus MTX2 MGD MGI:1859652
Bos taurus MTX2 VGNC VGNC:56129
Canis familiaris MTX2 VGNC VGNC:53101
Macaca mulatta MTX2 VGNC VGNC:75080
Others MTX2 NCBI