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MATR3 matrin 3 [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_199189 Homo sapiens matrin 3 (MATR3), transcript variant 1, mRNA. Full Length $2521.80
ORF Sequence $737.76
NM_018834 Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA. Full Length $2324.25
ORF Sequence $737.76
NM_001194954 Homo sapiens matrin 3 (MATR3), transcript variant 3, mRNA. Full Length $2484.90
ORF Sequence $737.76
NM_001194955 Homo sapiens matrin 3 (MATR3), transcript variant 4, mRNA. Full Length $2376.90
ORF Sequence $737.76
NM_001194956 Homo sapiens matrin 3 (MATR3), transcript variant 5, mRNA. Full Length $1467.55
ORF Sequence $487.20


Gene Symbol MATR3
Entrez Gene ID 9782
Full Name matrin 3
Synonyms DKFZp686K0542, DKFZp686K23100, KIAA0723, MGC9105, MPD2, VCPDM
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

5

5q31.2

Summary 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.
Disorder

MIM: 164015

Myopathy, distal 2, 606070 (3)

mRNA NM_199189, 303227922
Protein NP_954659, 62750354
Product matrin-3 isoform a
RefSeq Status REVIEWED
mRNA NM_018834, 303227921
Protein NP_061322, 21626466
Product matrin-3 isoform a
RefSeq Status REVIEWED
mRNA NM_001194954, 303227923
Protein NP_001181883, 303227924
Product matrin-3 isoform a
RefSeq Status REVIEWED
mRNA NM_001194955, 303227925
Protein NP_001181884, 303227926
Product matrin-3 isoform a
RefSeq Status REVIEWED
mRNA NM_001194956, 303227927
Protein NP_001181885, 303227928
Product matrin-3 isoform b
RefSeq Status REVIEWED
Homo sapiens (human)MATR3NP_954659.1
Pan troglodytes (chimpanzee)MATR3XP_001172237.1
Canis lupus familiaris (dog)MATR3XP_531926.2
Bos taurus (cattle)MATR3NP_001095956.1
Mus musculus (house mouse)Matr3NP_034901.2
Rattus norvegicus (Norway rat)Matr3NP_062022.2
Gallus gallus (chicken)MATR3NP_989478.1
Danio rerio (zebrafish)zgc:152816NP_001071228.1
Danio rerio (zebrafish)matr3lNP_001116256.1
Danio rerio (zebrafish)LOC100334038XP_002662263.1
Component
IDNameEvidence
GO:0005622intracellularIEA
GO:0005634nucleusIEA
GO:0005637nuclear inner membraneTAS
GO:0016363nuclear matrixIEA
Function
IDNameEvidence
GO:0000166nucleotide bindingIEA
GO:0003723RNA bindingIEA
GO:0005198structural molecule activityTAS
GO:0005515protein bindingIPI
GO:0008270zinc ion bindingIEA
GO:0046872metal ion bindingIEA
GeneCards MATR3
UniProt B7ZAV5, Q9H4N1, Q68D11, P43243
MIM 164015
Ensembl ENSG00000015479
HGNC 6912
HPRD 05270

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