MATR3 - matrin 3 Gene

Also Known as MPD2; ALS21; VCPDM

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9782

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables miRNA binding	IDA IDA: Inferred from direct assay	28431233	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in activation of innate immune response	IDA IDA: Inferred from direct assay	28712728	GOA
involved in post-transcriptional regulation of gene expression	IDA IDA: Inferred from direct assay	21771347	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

MATR3 Protein Structure

RRM_5

0
200
400
600
800
847 a.a.

Protein Preferred Names	Protein Names
matrin-3	vocal cord and pharyngeal weakness with distal myopathy

MATR3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MATR3	P43243	KRT34	Homo sapiens	O76011	Y2H Array	32296183
Intra	MATR3	P43243	KRT34	Homo sapiens	O76011	Y2H Prey Pooling	32296183
Intra	MATR3	P43243	PCBP3	Homo sapiens	P57721-2	Validated Y2H	32296183
Intra	MATR3	P43243	PTBP2	Homo sapiens	Q9UKA9-2	Validated Y2H	32296183
Intra	MATR3	P43243	HNRNPK	Homo sapiens	P61978	Validated Y2H	25416956
Intra	MATR3	P43243	KRT27	Homo sapiens	Q7Z3Y8	Y2H Array	32296183
Intra	MATR3	P43243	KRT27	Homo sapiens	Q7Z3Y8	Y2H Prey Pooling	32296183
Intra	MATR3	P43243	KRT27	Homo sapiens	Q7Z3Y8	Validated Y2H	32296183
Intra	MATR3	P43243	RASD1	Homo sapiens	Q9Y272	Validated Y2H	32296183
Intra	MATR3	P43243	RASD1	Homo sapiens	Q9Y272	Y2H Array	25416956
Intra	MATR3	P43243	RASD1	Homo sapiens	Q9Y272	Validated Y2H	25416956
Intra	MATR3	P43243	TRAF1	Homo sapiens	Q13077	Y2H Array	32296183
Intra	MATR3	P43243	TRAF1	Homo sapiens	Q13077	Validated Y2H	32296183
Intra	MATR3	P43243	TRAF1	Homo sapiens	Q13077	Y2H Prey Pooling	32296183
Intra	MATR3	P43243	TARDBP	Homo sapiens	Q13148	Validated Y2H	32814053
Intra	MATR3	P43243	TARDBP	Homo sapiens	Q13148	Y2H Pooling	32814053
Intra	MATR3	P43243	TARDBP	Homo sapiens	Q13148	Y2H Array	32814053
Intra	MATR3	P43243	DISC1	Homo sapiens	Q9NRI5	Y2H	17043677
Intra	MATR3	P43243	HNRNPK	Homo sapiens	P61978-2	Anti Tag CoIP	26496610
Intra	MATR3	P43243	HNRNPK	Homo sapiens	P61978-2	Validated Y2H	32296183
Intra	MATR3	P43243	NR4A1	Homo sapiens	P22736	Display Tech	20195357
Intra	MATR3	P43243	TSGA10	Homo sapiens	Q9BZW7	Validated Y2H	32296183
Intra	MATR3	P43243	PLEKHG4	Homo sapiens	Q58EX7	Validated Y2H	32296183
Intra	MATR3	P43243	PLEKHG4	Homo sapiens	Q58EX7	Y2H Array	32296183
Intra	MATR3	P43243	PLEKHG4	Homo sapiens	Q58EX7	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

MATR3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81828	Matrin 3 Antibody (YA1573)	WB, IHC-F, IHC-P, ICC/IF	Human
HY-P81828A	Matrin 3 Antibody (YA1573)(PBS only)	WB, IHC-F, IHC-P, ICC/IF	Human

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS19710	Matr3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS08174	MATR3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26206	Matr3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

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