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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MATR3 Gene

protein-coding GIFtS: 60
GCID: GC05P138609

matrin 3

(Previous names: myopathy, distal 2 )
(Previous symbol: MPD2)

Explore 14 diseases affiliated with
MATR3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Matrin 3¹ ²		MGC9105¹
MPD2¹ ² ⁵		Myopathy, Distal 2¹
VCPDM¹ ²		Matrin-3¹
KIAA0723¹ ³		Vocal Cord And Pharyngeal Weakness With Distal Myopathy²

External Ids:	HGNC: 6912¹	Entrez Gene: 9782²	Ensembl: ENSG00000015479⁷	OMIM: 164015⁵	UniProtKB: P43243³

ORGUL members:
	NONCODE:n410104

Export aliases for MATR3 gene to outside databases

Previous GC identifers: GC05P138504 GC05P139284 GC05P138640 GC05P138705 GC05P138657

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MATR3:

This locus encodes a nuclear matrix protein. Mutations at this locus have been associated with distal myopathy 2, which

often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through

transcripts with an upstream locus have been described. Related pseuodgenes have been defined on chr1 and

chrX.(provided by RefSeq, Mar 2011)

UniProtKB/Swiss-Prot: MATR3_HUMAN, P43243

Function: May play a role in transcription or may interact with other nuclear matrix proteins to form the internal

fibrogranular network. In association with the SFPQ-NONO heteromer may play a role in nuclear retention of defective

RNAs

Gene Wiki entry for MATR3

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_034772.6

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MATR3 gene promoter:
Nkx6-1 POU2F1a Nkx2-5 IRF-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MATR3 promoter sequence

Search SABiosciences Chromatin IP Primers for MATR3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MATR3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q31.2 Ensembl cytogenetic band: 5q31.2 HGNC cytogenetic band: 5q31.3

MATR3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MATR3 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P138609: view genomic region (about GC identifiers)

Start:	138,609,441 bp from pter	End:	138,667,366 bp from pter
Size:	57,926 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MATR3_HUMAN, P43243 (See protein sequence)

Recommended Name: Matrin-3

Size: 847 amino acids; 94623 Da

Subunit: Part of complex consisting of SFPQ, NONO and MATR3. Interacts with EIF2C1 and EIF2C2

Subcellular location: Nucleus matrix

Sequence caution: Sequence=AAF17217.1; Type=Frameshift; Positions=Several; Sequence=BAA34443.2; Type=Erroneous

initiation; Note=Translation N-terminally shortened;

Secondary accessions: B7ZAV5 D3DQC3 Q9UHW0 Q9UQ27

Alternative splicing: 2 isoforms: P43243-1 P43243-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MATR3: NX_P43243

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P43243

MATR3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_001181883.1 NP_001181884.1 NP_001181885.1 NP_061322.2 NP_954659.1

ENSEMBL proteins:

ENSP00000423533 ENSP00000423521 ENSP00000423695 ENSP00000422233 ENSP00000421218

ENSP00000422319 ENSP00000378279 ENSP00000421666 ENSP00000424431 ENSP00000427168

ENSP00000378284 ENSP00000425150 ENSP00000424646 ENSP00000423290 ENSP00000422700

ENSP00000426030 ENSP00000426743 ENSP00000422649 ENSP00000423587 ENSP00000425167

ENSP00000422137 ENSP00000427557 ENSP00000426801 ENSP00000422590 ENSP00000421145

ENSP00000422054 ENSP00000421906 ENSP00000354346

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: MATR3 OriGene Protein Over-expression Lysate (see all 2): MATR3 OriGene Custom Protein Services for MATR3
	GenScript Custom Purified and Recombinant Proteins Services for MATR3
	Novus Biologicals MATR3 Protein Novus Biologicals MATR3 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MATR3

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005637	nuclear inner membrane	TAS	2033075
GO:0005730	NOT nucleolus	IDA	--
GO:0016363	nuclear matrix	IEA	--

MATR3 for ontologies About GeneDecksing

MATR3 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
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	GenScript Custom Superior Antibodies Services for MATR3
	Novus Biologicals MATR3 Antibodies
	Abcam antibodies for MATR3
	Uscn Antibodies for MATR3
	ThermoFisher Antibodies for MATR3

Assay Products for MATR3:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for MATR3
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for MATR3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MATR3 for domains About GeneDecksing

5 InterPro domains/families:

IPR003604 Znf_U1

IPR012677 Nucleotide-bd_a/b_plait

IPR015880 Znf_C2H2-like

IPR000690 Znf_C2H2_matrin

IPR000504 RRM_dom

Graphical View of Domain Structure for InterPro Entry P43243

ProtoNet protein and cluster: P43243

2 Blocks protein families:

IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

IPB003604 Zn-finger

UniProtKB/Swiss-Prot: MATR3_HUMAN, P43243

Similarity: Contains 1 matrin-type zinc finger

Similarity: Contains 2 RRM (RNA recognition motif) domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MATR3_HUMAN, P43243

Function: May play a role in transcription or may interact with other nuclear matrix proteins to form the internal

fibrogranular network. In association with the SFPQ-NONO heteromer may play a role in nuclear retention of defective

RNAs

Genatlas biochemistry entry for MATR3:

matrin 3

miRNA Products:		miRTarBase miRNAs that target MATR3: hsa-mir-200b (MIRT005035), hsa-mir-155 (MIRT001804)

		OriGene 3'-UTR Clone (see all 2): MATR3 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MATR3
		8/101 QIAGEN miScript miRNA Assays for microRNAs that regulate MATR3 (see all 101):
		hsa-miR-411* hsa-miR-548j hsa-miR-579 hsa-miR-30d hsa-miR-4275 hsa-miR-10b* hsa-miR-30a hsa-miR-298

		SwitchGear 3'UTR luciferase reporter plasmid: MATR3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MATR3 (see all 7) OriGene shRNA RFP: MATR3 OriGene siRNA: MATR3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MATR3

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for MATR3

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MATR3 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MATR3 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 5): MATR3 (NM_199189)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MATR3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MATR3

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MATR3
		Search LifeMap BioReagents cell lines for MATR3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MATR3

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003676	nucleic acid binding	--	--
GO:0003723	RNA binding	IEA	--
GO:0005198	structural molecule activity	TAS	2033075
GO:0005515	protein binding	IPI	--

MATR3 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for MATR3:

Increased cell number in G1, a

Animal Models:
1 MGI phenotypic allele

for Matr3 (no phenotypes)

MATR3 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MATR3

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/896 Interacting proteins for MATR3 (P43243^{1, 2, 3} ENSP00000354346⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 896)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PCBP1	Q15365²^,³, ENSP00000305556⁴	MINT-2867539 MINT-2867520 MINT-7947479 I2D: score=3 STRING: ENSP00000305556
HNRNPK	P61978²^,³, ENSP00000365439⁴	MINT-7945693 MINT-7947479 I2D: score=4 STRING: ENSP00000365439
RUVBL2	Q9Y230²^,³, ENSP00000221413⁴	MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000221413
UBA5	Q9GZZ9²^,³	MINT-7945693 MINT-7947479 I2D: score=1
AIMP2	Q13155²^,³	MINT-8258973 I2D: score=2

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

MATR3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MATR3
1 Novoseek chemical compound relationship for MATR3 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
arginine	31.8	2	9757574 (1), 8670298 (1)

Search CenterWatch for drugs/clinical trials and news about MATR3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MATR3 gene (5 alternative transcripts):

NM_001194954.1 NM_001194955.1 NM_001194956.1 NM_018834.5 NM_199189.2

Unigene Cluster for MATR3:

Matrin 3

Hs.268939 [show with all ESTs]

Unigene Representative Sequence: CR936615

18/46 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 46):

ENST00000509990(uc010jfa.3 uc003lds.3) ENST00000506147 ENST00000512107

ENST00000448190 ENST00000507692 ENST00000506188 ENST00000513259 ENST00000514694

ENST00000504203 ENST00000502929 ENST00000394800(uc003ldu.3 uc010jfb.3 uc003ldt.3 uc003ldw.3 uc003ldx.3 uc003ldz.3 uc011czb.2)

ENST00000507197(uc003ldr.3) ENST00000509644 ENST00000508735 ENST00000514110

ENST00000505522 ENST00000505016 ENST00000502394

miRNA Products:		OriGene 3'-UTR Clone (see all 2): MATR3 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MATR3
		8/101 QIAGEN miScript miRNA Assays for microRNAs that regulate MATR3 (see all 101):
		hsa-miR-411* hsa-miR-548j hsa-miR-579 hsa-miR-30d hsa-miR-4275 hsa-miR-10b* hsa-miR-30a hsa-miR-298

		SwitchGear 3'UTR luciferase reporter plasmid: MATR3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MATR3 (see all 7) OriGene shRNA RFP: MATR3 OriGene siRNA: MATR3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MATR3

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MATR3 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MATR3 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 5): MATR3 (NM_199189)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MATR3
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MATR3

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MATR3 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat MATR3
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MATR3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MATR3

Additional cDNA sequence:

AB018266.1 AF117236.1 AJ224167.1 AJ224168.1 AJ224170.1 AK001388.1 AK057645.1 AK299399.1

AK309195.1 AK316420.1 AL117541.1 AY007157.1 BC015031.2 BX537365.1 CR749210.1 CR936615.1

M63483.1 NR_003141.3 NR_036535.1 NR_036536.1

24/72 DOTS entries (see all 72):

DT.451983 DT.95375628 DT.95377232 DT.95251461 DT.99995934 DT.75158028 DT.95375652 DT.453333

DT.100667824 DT.100886467 DT.120805857 DT.95192598 DT.95375624 DT.100654219 DT.120805801 DT.100886474

DT.120805808 DT.120805718 DT.120805947 DT.437464 DT.100678429 DT.100813688 DT.100886478 DT.95375657

24/950 AceView cDNA sequences (see all 950):

BM798730 BX503674 AJ708875 AV726275 BM785911 CB147637 BU158709 AJ224170

BM970901 AI434021 AU142384 BM788531 BI860623 AI701251 BM817867 AA491524

BP336748 BU178071 BP362681 CD723113 F07286 AL702657 BM984177 AL539423

GeneLoc Exon Structure

5/25 Alternative Splicing Database (ASD) splice patterns (SP) for MATR3 (see all 25) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	^	2a	·	2b	^	3a	·	3b	^	4a	·	4b	^	5a	·	5b	^	6	^	7a	·	7b	·	7c	·	7d	^	8a	·	8b	^	9a	·	9b	^	10a	·	10b	·	10c	^	11	^
SP1:																																							-		-				-
SP2:													-		-		-		-		-		-		-		-		-		-								-		-				-
SP3:													-		-		-		-		-		-		-		-		-		-		-		-				-		-				-
SP4:																																							-		-		-		-
SP5:																	-		-		-		-		-		-		-		-		-		-				-		-				-

ExUns:	12a	·	12b	·	12c	^	13	^	14a	·	14b	·	14c	^	15a	·	15b	^	16	^	17a	·	17b	^	18	^	19a	·	19b	^	20	^	21a	·	21b	^	22a	·	22b
SP1:									-																		-		-
SP2:									-
SP3:									-
SP4:									-
SP5:

ECgene alternative splicing isoforms for MATR3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MATR3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTGGAATGT

About this image
See MATR3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MATR3

SOURCE GeneReport for Unigene cluster: Hs.268939

SABiosciences Custom PCR Arrays for MATR3

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MATR3 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat MATR3
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MATR3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MATR3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MATR3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for MATR3 gene from 5/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Matr3^{1 , 5}	matrin 3^{1, 5}	94.84(n)¹ 98.46(a)¹		18 (19.14 cM)⁵ 17184¹ NM_010771.6¹ NP_034901.2¹ 35562158⁵
chicken (Gallus gallus)	Aves	MATR3¹	matrin 3	83.39(n) 84.67(a)		373948 NM_204147.1 NP_989478.1
lizard (Anolis carolinensis)	Reptilia	MATR3⁶	--	86(a)	1 ↔ 1	1(131977041-131991371)
African clawed frog (Xenopus laevis)	Amphibia	Xl.7663²	Xenopus laevis transcribed sequence with weak similarity more	75.56(n)		BU900762.1
zebrafish (Danio rerio)	Actinopterygii	matr3l¹	matrin 3-like	44.83(n) 29.42(a)		556290 XM_003199899.1 XP_003199947.1

ENSEMBL Gene Tree for MATR3 (if available)
TreeFam Gene Tree for MATR3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MATR3 gene

RBM20² ZNF638²

4 SIMAP similar genes for MATR3 using alignment to 20 protein entries: MATR3_HUMAN (see all proteins):

DKFZp686K0542 DKFZp686K23100 DKFZp686L22104 PTBP1

MATR3 for paralogs About GeneDecksing

4 Pseudogenes.org Pseudogenes for MATR3
PGOHUM00000244127 PGOHUM00000244829 PGOHUM00000238280 PGOHUM00000241839

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121434591^1,2	C	pathogenic	138643358(+)	`GCAGTC/GTATAT`	10	S C	int¹ mis¹		0	--	--	--	--
rs73253199^1,2	C,	--	138607447(+)	`TCTCCT/ACTAGA`	5	--	us2k¹		2		WA	120
rs12520989^1,2	C,H	--	138607465(+)	`ctttaG/Agcagg`	5	--	us2k¹		5		NS EA NA	418
rs185014172^1,2		--	138607539(+)	`GTTTCA/GTAAAT`	5	--	us2k¹		0	--	--	--	--
rs149482433^1,2		--	138607589(+)	`AGATAC/TTTCTC`	5	--	us2k¹		0	--	--	--	--
rs138466780^1,2		--	138607599(+)	`CTGGT-/GGGTTT`	5	--	us2k¹		0	--	--	--	--
rs189384356^1,2		--	138607606(+)	`TGGTTG/TTTCTC`	5	--	us2k¹		0	--	--	--	--
rs182272532^1,2		--	138608044(+)	`CCAAAA/GGTCAT`	5	--	us2k¹		0	--	--	--	--
rs76210883^1,2		--	138608246(+)	`AGTTAC/TTTCTT`	5	--	us2k¹		1		NA	120
rs56395138^1,2		--	138608294(+)	`ACACAC/TACACA`	5	--	us2k¹		1		NA	2

HapMap Linkage Disequilibrium report for MATR3 (138609441 - 138667366 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MATR3: --
Human Gene Mutation Database (HGMD): MATR3

Locus Specific Mutation Databases (LSDB): MATR3

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MATR3

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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MATR3 for disorders           About GeneDecksing

OMIM gene information: 164015
OMIM disorders: 606070
UniProtKB/Swiss-Prot: MATR3_HUMAN, P43243

Defects in MATR3 are the cause of myopathy distal type 2 (MPD2) [MIM:606070]; also called vocal cord and

pharyngeal dysfunction with distal myopathy (VCPDM). MPD2 is a muscular disorder characterized by distal weakness,

with onset in hands and feet, associated with vocal cord and pharyngeal weakness causing a nasal voice and swallowing

disorders

14 diseases for MATR3: About MalaCards

pharyngitis myopathy diastrophic dysplasia muscular dystrophy

acute myeloid leukemia myeloid leukemia myelodysplastic syndrome down syndrome

pulmonary disease hepatocellular carcinoma leukemia ataxia

schizophrenia carcinoma

Human Genome Epidemiology (HuGE) Navigator: MATR3 (5 documents)

Export disorders for MATR3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MATR3 gene, integrated from 9 sources (see all 88):
(articles sorted by number of sources associating them with MATR3)

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Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. (PubMed id 19344878)^{1, 2, 3, 9} Senderek J....Jackson C.E. (2009)
Molecular cloning of matrin 3. A 125-kilodalton protein of the nuclear matrix contains an extensive acidic domain. (PubMed id 2033075)^{1, 2, 3, 9} Belgrader P.... Berezney R. (1991)
Proteomic and functional analysis of Argonaute-containing mRNA- protein complexes in human cells. (PubMed id 17932509)^{1, 2} Hoeck J.... Meister G. (2007)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The fate of dsRNA in the nucleus: a p54(nrb)-containing complex mediates the nuclear retention of promiscuously A-to-I edited RNAs. (PubMed id 11525732)^{1, 2} Zhang Z. and Carmichael G.G. (2001)
Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)^{1, 2} Hu R.-M.... Chen J.-L. (2000)
Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9872452)^{1, 2} Nagase T.... Ohara O. (1998)
Matrin 3 is a Ca2+/calmodulin-binding protein cleaved by caspases. (PubMed id 17658460)^{1, 9} Valencia C.A....Liu R. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 9782	HGNC: 6912	AceView: MATR3	Ensembl:ENSG00000015479	euGenes: HUgn9782
ECgene: MATR3	H-InvDB: MATR3

(According to HUGE)
About This Section

HUGE: KIAA0723

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MATR3	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MATR3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MATR3 gene:
Search GeneIP for patents involving MATR3

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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