DRP2 - dystrophin related protein 2 Gene
Also Known as DRP-2
Species: Homo sapiens
About DRP2
This gene has 5 transcripts (splice variants), 223 orthologues and 36 paralogues. Biased expression in brain (RPKM 5.3), ovary (RPKM 0.8) and 3 other tissues.
Summary
Members of the Dystrophin family of proteins perform a critical role in the maintenance of membrane-associated complexes at points of intercellular contact in vertebrate cells. The protein encoded by this gene is predicted to resemble certain short C-terminal isoforms of Dystrophin and dystrophin-related protein 1 (DRP1 or utrophin). DRP2 is expressed principally in the brain and spinal cord. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
DRP2 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001171184.2 | NP_001164655.1 | dystrophin-related protein 2 isoform 2 |
| NM_001939.3 | NP_001930.2 | dystrophin-related protein 2 isoform 1 |
DRP2 Protein Structure
Spectrin: Spectrin repeat (232 - 337)
WW: WW domain (357 - 383)
EF-hand_2: EF hand (384 - 504)
EF-hand_3: EF-hand (509 - 598)
ZZ: Zinc finger, ZZ type (605 - 647)
- 0
- 200
- 400
- 600
- 800
- 957 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
dystrophin-related protein 2 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Charcot-Marie-Tooth Disease |
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| Charcot-Marie-Tooth Disease, Demyelinating, Type 4f |
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| Hypertrophic Neuropathy Of Dejerine-Sottas |
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| Ulnar Neuropathy |
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| Neuronopathy, Distal Hereditary Motor, Type Iib |
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| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
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| Mohr-Tranebjaerg Syndrome |
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| Brachial Plexus Neuritis |
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| Muscular Dystrophy |
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| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
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| Neuromuscular Disease |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | DRP2 | VGNC | VGNC:71994 |
| Canis familiaris | DRP2 | VGNC | VGNC:54135 |
| Felis catus | DRP2 | VGNC | VGNC:61633 |
| Bos taurus | DRP2 | VGNC | VGNC:52764 |
| Rattus norvegicus | DRP2 | RGD | RGD:621750 |
| Mus musculus | DRP2 | MGD | MGI:107432 |
| Others | DRP2 | NCBI |