MATR3 matrin 3 [Homo sapiens (human)]
| 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) | MATR3 | NP_954659.1 |
| Pan troglodytes (chimpanzee) | MATR3 | XP_001172237.1 |
| Canis lupus familiaris (dog) | MATR3 | XP_531926.2 |
| Bos taurus (cattle) | MATR3 | NP_001095956.1 |
| Mus musculus (house mouse) | Matr3 | NP_034901.2 |
| Rattus norvegicus (Norway rat) | Matr3 | NP_062022.2 |
| Gallus gallus (chicken) | MATR3 | NP_989478.1 |
| Danio rerio (zebrafish) | zgc:152816 | NP_001071228.1 |
| Danio rerio (zebrafish) | matr3l | NP_001116256.1 |
| Danio rerio (zebrafish) | LOC100334038 | XP_002662263.1 |
| ID | Name | Evidence |
| GO:0005622 | intracellular | IEA |
| GO:0005634 | nucleus | IEA |
| GO:0005637 | nuclear inner membrane | TAS |
| GO:0016363 | nuclear matrix | IEA |
Function
| ID | Name | Evidence |
| GO:0000166 | nucleotide binding | IEA |
| GO:0003723 | RNA binding | IEA |
| GO:0005198 | structural molecule activity | TAS |
| GO:0005515 | protein binding | IPI |
| GO:0008270 | zinc ion binding | IEA |
| GO:0046872 | metal ion binding | IEA |
Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.
| Secured Online Quotation | |
| Email: gene@genscript.com | |
| Phone: 1-877-436-7274 (Toll-Free) 1-732-885-9188 | |
| Fax: 1-732-210-0262 1-732-885-5878 |

