MTX2 - metaxin 2 Gene

Homo sapiens

Also known as MDPS; metaxin-2

Gene ID: 10651 | Gene type: protein coding

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

MTX2 Protein Structure

Tom37

GST_C_3

0
100
200
263 a.a.

Protein Preferred Names

Protein Names

metaxin-2

mitochondrial outer membrane import complex protein 2

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08829	MTX2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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