1. Gene
  2. MATR3 - matrin 3 Gene

MATR3 - matrin 3 Gene

Homo sapiens

Also known as MPD2; ALS21; VCPDM

Gene ID: 9782 | Gene type: protein coding

About MATR3

Cytogenetic location: 5q31.2 Genomic coordinates (GRCh38): 5:139,274,101-139,331,677 (from NCBI)

This gene has 27 transcripts (splice variants), 260 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 79.2), thyroid (RPKM 60.8) and 25 other tissues.

Summary

This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X. [provided by RefSeq, Aug 2013]

MATR3 Products(31)

mRNA Protein Name
NM_001194954.2 NP_001181883.1 matrin-3 isoform a
NM_001194955.2 NP_001181884.1 matrin-3 isoform a
NM_001194956.2 NP_001181885.1 matrin-3 isoform b
NM_001282278.2 NP_001269207.1 matrin-3 isoform c
NM_001400441.1 NP_001387370.1 matrin-3 isoform d
NM_001400442.1 NP_001387371.1 matrin-3 isoform d
NM_001400443.1 NP_001387372.1 matrin-3 isoform d
NM_001400444.1 NP_001387373.1 matrin-3 isoform d
NM_001400445.1 NP_001387374.1 matrin-3 isoform d
NM_001400447.1 NP_001387376.1 matrin-3 isoform a
NM_001400448.1 NP_001387377.1 matrin-3 isoform a
NM_001400450.1 NP_001387379.1 matrin-3 isoform a
NM_001400451.1 NP_001387380.1 matrin-3 isoform a
NM_001400452.1 NP_001387381.1 matrin-3 isoform a
NM_001400453.1 NP_001387382.1 matrin-3 isoform a
NM_001400454.1 NP_001387383.1 matrin-3 isoform a
NM_001400455.1 NP_001387384.1 matrin-3 isoform a
NM_001400456.1 NP_001387385.1 matrin-3 isoform a
NM_001400457.1 NP_001387386.1 matrin-3 isoform a
NM_001400458.1 NP_001387387.1 matrin-3 isoform a
NM_001400459.1 NP_001387388.1 matrin-3 isoform e
NM_001400460.1 NP_001387389.1 matrin-3 isoform f
NM_001400461.1 NP_001387390.1 matrin-3 isoform g
NM_001400462.1 NP_001387391.1 matrin-3 isoform c
NM_001400463.1 NP_001387392.1 matrin-3 isoform c
NM_001400464.1 NP_001387393.1 matrin-3 isoform c
NM_001400465.1 NP_001387394.1 matrin-3 isoform c
NM_001400466.1 NP_001387395.1 matrin-3 isoform c
NM_001400467.1 NP_001387396.1 matrin-3 isoform c
NM_018834.6 NP_061322.2 matrin-3 isoform a
NM_199189.3 NP_954659.1 matrin-3 isoform a

MATR3 Protein Structure

RRM_5

RRM_5: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (415 - 471)

RRM_5

RRM_5: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (514 - 569)

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  • 847 a.a.
Protein Preferred Names Protein Names

matrin-3

vocal cord and pharyngeal weakness with distal myopathy

Related Diseases

Diseases Alias
Amyotrophic Lateral Sclerosis 21

Amyotrophic Lateral Sclerosis Type 21

ALS21

Multisystem Proteinopathy 5

Msp5

Distal Myopathy With Vocal Cord Weakness

Vcpdm

Myopathy, Distal, 2, Formerly

Mpd2, Formerly

Vocal Cord And Pharyngeal Dysfunction With Distal Myopathy, Formerly

Vcpdm, Formerly

Vocal Cord And Pharyngeal Distal Myopathy

Matr3-Related Distal Myopathy

Distal Myopathy 2

Mpd2

Vocal Cord And Pharyngeal Dysfunction With Distal Myopathy

Sclerosis, Lateral, Amyotrophic, Type 21

Myopathy, Distal 2

Distal Myopathy With Vocal Cord Weakness

Distal Myopathy 2

Mpd2

Myopathy, Distal, 2

Distal Myopathy With Vocal Cord And Pharyngeal Signs

Matrin 3 Distal Myopathy

Myopathia Distalis Type 2

Vcpdm

Vocal Cord And Pharyngeal Weakness With Distal Myopathy

Myopathy, Distal 2

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Myopathy

Muscular Diseases

Myopathies

Lateral Sclerosis

Primary Lateral Sclerosis

Adult-Onset Primary Lateral Sclerosis

Adult-Onset Pls

Motor Neuron Disease

Pls

Pls - [Primary Lateral Sclerosis]

Lateral Spinal Sclerosis

Lateral Complete Paralysis

Lateral Incomplete Paralysis

Lateral Paralysis

Spinocerebellar Ataxia 2

Spinocerebellar Ataxia Type 2

SCA2

Amyotrophic Lateral Sclerosis 13

Spinocerebellar Degeneration With Slow Eye Movements

SDSEM

Spinocerebellar Atrophy Ii

Olivopontocerebellar Atrophy Ii

Opca2

Cerebellar Degeneration With Slow Eye Movements

Wadia-Swami Syndrome

Amyotrophic Lateral Sclerosis Type 13

ALS13

Olivopontocerebellar Atrophy Holguin Type

Spinocerebellar Ataxia Cuban Type

Olivopontocerebellar Atrophy, Holguin Type

Spinocerebellar Ataxia, Cuban Type

Amyotrophic Lateral Sclerosis, Susceptibility To, 13

Olivopontocerebellar Atrophy 2

Sca 2

Spinocerebellar Ataxia With Slow Eye Movements

Spinocerebellar Atrophy 2

Wadia Swami Syndrome

Opca Ii

Spinocerebellar Ataxia-2

Ataxia, Spinocerebellar, Type 2

Multisystem Proteinopathy
Respiratory Failure

Acute Respiratory Failure

Chronic Respiratory Failure

Respiratory Insufficiency

Acute-On-Chronic Respiratory Failure

Respiratory Disease

Acute And Chronic Respiratory Failure

Respiratory Insufficiency/Failure

Chronic Respiratory Disease

Pulmonary Valve Insufficiency

Chronic Disease Of Respiratory System

Respiration Disorders

Respiratory Tract Diseases

Lung Failure Nos

Pulmonary Failure

Arf - [Acute Respiratory Failure]

Acute Respiratory Insufficiency

Acute Pulmonary Insufficiency

Acute Respiration Failure

Chronic Respiration Failure

Myopathy, Distal, 4

Distal Myopathy With Posterior Leg And Anterior Hand Involvement

MPD4

Williams Distal Myopathy

Distal Muscular Dystrophy 4

Distal Abd-Filaminopathy

Distal Myopathy 4

Myopathy, Distal, Type 4

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2

FTDALS2

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-2

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 2

Scapuloperoneal Syndrome, Neurogenic, Kaeser Type

KAESER SYNDROME

Stark-Kaeser Syndrome

Neurogenic Scapuloperoneal Syndrome Kaeser Type

Neurogenic Scapuloperoneal Syndrome, Kaeser Type

Scapuloperoneal Syndrome, Neurogenic Type, Of Kaeser

SCPNK

Scapuloperoneal Syndrome Type Kaeser

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

FTDALS1

Frontotemporal Dementia And/Or Motor Neuron Disease

Ftdmnd

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

Alsftd

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

Frontotemporal Dementia With Motor Neuron Disease

Ftdals

Ftd-Als

Ftd-Mnd

Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

Frontotemporal Lobar Degeneration

Grn-Related Frontotemporal Dementia

Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

Ibmpfd

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

Pagetoid Amyotrophic Lateral Sclerosis

Pagetoid Neuroskeletal Syndrome

Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia

Multisystem Proteinopathy

Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement

Lower Motor Neuron Degeneration With Paget-Like Bone Disease

Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia

Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 2

Ibmpfd2

Msp2

Multisystem Proteinopathy 2

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 1

Ibmpfd1

Msp1

Multisystem Proteinopathy 1

Spondylometaphyseal Dysplasia, Axial

Axial Spondylometaphyseal Dysplasia

SMDAX

Axial Smd

Smd Axial

Smd, Axial

Spondylometaphyseal Dysplasia Axial Type

Dysplasia, Spondylometaphyseal, Axial

Nonaka Myopathy

Gne Myopathy

Hibm

Distal Myopathy With Rimmed Vacuoles

Hereditary Inclusion Body Myopathy

Ibm2

Inclusion Body Myopathy, Quadriceps-Sparing

Qsm

Dmrv

Distal Myopathy, Nonaka Type

Inclusion Body Myopathy 2

Inclusion Body Myopathy, Autosomal Recessive

NM

Nonaka Distal Myopathy

Myopathy, Distal, With Or Without Rimmed Vacuoles

Inclusion Body Myopathy, Hereditary, Autosomal Recessive

Inclusion Body Myopathy Type 2

Quadriceps-Sparing Myopathy

Quadriceps Sparing Myopathy

Rimmed Vacuole Myopathy

Inclusion Body Myopathy 2, Autosomal Recessive, Formerly

Ibm2, Formerly

Hibm2

Hereditary Inclusion Body Myopathy Type 2

Inclusion Body Myopathy 2, Autosomal Recessive

Myopathy, Distal, With Rimmed Vacuoles

Inclusion Body Myopathy Autosomal Recessive

Myopathy, Inclusion Body, Type 2

Myopathy, Nonaka

Tibial Muscular Dystrophy

Tmd

Udd Myopathy

Distal Titinopathy

Finnish Tibial Muscular Dystrophy

Tardive Tibial Muscular Dystrophy

Udd Type Distal Myopathy

Udd Distal Myopathy

Udd-Markesbery Muscular Dystrophy

Distal Myopathy, Udd Type

Distal Myopathies

Tibial Muscular Dystrophy, Tardive

Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia

Amyotrophic Lateral Sclerosis Type 10

ALS10

Amyotrophic Lateral Sclerosis 10, With Or Without Ftd

Frontotemporal Lobar Degeneration, Tardbp-Related

Amyotrophic Lateral Sclerosis 10

Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia

Tardbp-Related Frontotemporal Lobar Degeneration With Tdp43 Inclusions

Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia And With Tdp43 Inclusions

Sclerosis, Lateral, Amyotrophic, Type Type 10

Epithelial-Stromal Tgfbi Dystrophy
Lattice Corneal Dystrophy

Familial Amyloid Neuropathy, Finnish Type

Familial Amyloid Polyneuropathy, Type V

Amyotrophic Lateral Sclerosis Type 6

Amyotrophic Lateral Sclerosis 6, Autosomal Recessive

Als6

Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia

Autosomal Recessive Amyotrophic Lateral Sclerosis 6

Sclerosis, Lateral, Amyotrophic, Type Type 6

Amyotrophic Lateral Sclerosis 6

Paget'S Disease Of Bone

Osteitis Deformans

Paget Disease Of Bone

Osseous Paget'S Disease

Paget Disease Of Bone, Familial

Bone Paget Disease

Familial Paget'S Disease Of Bone

Paget'S Bone Disease

Familial Paget Disease Of Bone

Paget Disease, Bone

Pdb

Pagets Bone Disease

Myopathy, Distal, 1

Laing Distal Myopathy

Laing Early-Onset Distal Myopathy

MPD1

Distal Myopathy 1

Myopathy, Distal, Early-Onset, Autosomal Dominant

Distal Myopathy Type 1

Gowers Disease

Myopathy, Late Distal Hereditary

Myopathy Distal, Type 1

Myopathy Distal Early-Onset Autosomal Dominant

Myopathy Late Distal Hereditary

Myopathy, Distal, Type 1

Welander Distal Myopathy

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2

CMT2E

CMT2S

CMT2Y

Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease Axonal Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2s

Charcot-Marie-Tooth Disease, Type 2e

Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Neuropathy, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s

Charcot-Marie-Tooth Disease, Axonal, Type 2y

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y

Charcot-Marie-Tooth Neuropathy, Type 2y

Charcot-Marie-Tooth Disease, Type 2y

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e

Charcot-Marie-Tooth Neuropathy Type 2e

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation

Cmt2 Due To Vcp Mutation

Charcot-Marie-Tooth Disease Type 2s

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease

Cmt2

Charcot-Marie-Tooth Neuropathy, Type 2e

Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type

Hereditary Motor And Sensory Neuropathy Okinawa Type

Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y

Charcot-Marie-Tooth Neuropathy Type 2y

Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s

Charcot-Marie-Tooth Neuropathy Type 2s

Charcot-Marie-Tooth Type 2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y

Charcot-Marie-Tooth Disease 2e

Charcot-Marie-Tooth Disease Axonal Type 2e

Charcot-Marie-Tooth Disease Neuronal Type 2e

Charcot-Marie-Tooth Disease 2s

Charcot-Marie-Tooth Neuropathy Axonal Type 2s

Charcot-Marie-Tooth Disease 2y

Charcot-Marie-Tooth Disease, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii

Fragile X-Associated Tremor/Ataxia Syndrome

Fxtas Syndrome

Fragile X Tremor/Ataxia Syndrome

Fxtas

Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus MATR3 RGD RGD:3052
Mus musculus MATR3 MGD MGI:1298379