DRP2 - dystrophin related protein 2 Gene

Also Known as DRP-2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1821

About DRP2

Cytogenetic location: Xq22.1 Genomic coordinates (GRCh38): X:101,219,786-101,264,502 (from NCBI)

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: Spectrin repeat (232 - 337)

WW

WW: WW domain (357 - 383)

EF-hand_2

EF-hand_2: EF hand (384 - 504)

EF-hand_3

EF-hand_3: EF-hand (509 - 598)

ZZ

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
  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies

Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
  • Charcot-Marie-Tooth Disease Type 4f

  • CMT4F

  • Charcot-Marie-Tooth Disease, Type 4f

  • Charcot-Marie-Tooth Disease 4f

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4f

  • Charcot-Marie-Tooth Neuropathy Type 4f

  • Dejerine-Sottas Disease

Hypertrophic Neuropathy Of Dejerine-Sottas
  • Dejerine-Sottas Disease

  • Dejerine-Sottas Syndrome

  • Charcot-Marie-Tooth Disease Type 3

  • DSS

  • Hereditary Motor And Sensory Neuropathy Type Iii

  • Hmsn3

  • Dejerine-Sottas Neuropathy

  • Hmsn Iii

  • Charcot-Marie-Tooth Disease, Type 3

  • Cmt3

  • Dsn

  • Hmsn 3

  • Hereditary Motor And Sensory Neuropathy Type 3

  • Hereditary Motor And Sensory Neuropathy 3

  • Hypertrophic Neuropathy Of Infancy

  • Charcot-Marie-Tooth Disease Demyelinating Type 4f

  • Charcot-Marie-Tooth Disease Type 4f

  • Charcot-Marie-Tooth Neuropathy Type 4f

  • Cmt4f

  • Hereditary Motor And Sensory Neuropathy Iii

  • Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

Ulnar Neuropathy
  • Ulnar Neuropathies

Neuronopathy, Distal Hereditary Motor, Type Iib
  • HMN2B

  • Hmn Iib

  • Neuropathy, Distal Hereditary Motor, Type Iib

  • Dhmn2b

  • Distal Hereditary Motor Neuropathy Type 2b

  • Distal Hereditary Motor Neuropathy Type Iib

  • Neuronopathy, Distal Hereditary Motor, Type 2b

  • Neuronopathy, Distal Hereditary Motor, 2b

  • Dhmn Ii

  • Neuropathy, Motor, Distal, Hereditary, Type 2b

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

Mohr-Tranebjaerg Syndrome
  • Deafness-Dystonia-Optic Neuronopathy Syndrome

  • Jensen Syndrome

  • Deafness Dystonia Syndrome

  • MTS

  • Dds

  • Deafness-Dystonia-Optic Atrophy Syndrome

  • Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency

  • Opticoacoustic Nerve Atrophy With Dementia

  • Dystonia-Deafness Syndrome

  • Ddp

  • Ddon Syndrome

  • Mohr-Tranebjærg Syndrome

  • Deafness Dystonia Optic Atrophy Syndrome

  • Deafness Dystonia Optic Neuronopathy Syndrome

  • Dystonia Deafness Syndrome

  • Ddon

  • Deafness - Dystonia - Optic Neuronopathy Syndrome

  • Deafness-Dystonia-Optic Neuronopathy Syndrome

  • Hearing Loss-Dystonia-Optic Neuronopathy Syndrome

  • Dfn-1

  • X-Linked Progressive Deafness Type 1

Brachial Plexus Neuritis
  • Brachial Neuritis

  • Parsonage-Aldren-Turner Syndrome

Muscular Dystrophy
  • Muscular Dystrophies

  • Congenital Md

  • Congenital Muscular Dystrophy

  • Cmd

  • Mdc

  • Dystrophy, Muscular

  • Gower'S Muscular Dystrophy

  • Progressive Musclular Dystrophy

  • Pseudohypertrophic Atrophy

  • Pseudohypertrophic Muscle Paralysis

  • Pseudohypertrophic Muscular Atrophy

  • Pseudohypertrophic Muscular Dystrophy

  • Pseudohypertrophic Paralysis

  • Pseudomuscular Hypertrophy

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
  • Charcot-Marie-Tooth Disease Type 4

  • Charcot-Marie-Tooth Disease Type 4e

  • Hereditary Motor And Sensory Neuropathy

  • Cmt4e

  • CHN1

  • Hypomyelinating Neuropathy, Congenital, 1

  • Charcot-Marie-Tooth Neuropathy Type 4e

  • Neuropathy, Congenital Hypomyelinating, 1

  • Ar-Cmt1

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth

  • Cmt4

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

  • Hypomyelination, Severe Congenital

  • Charcot-Marie-Tooth Disease, Type 4e

  • Charcot-Marie-Tooth Neuropathy, Type 4e

  • Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

  • Autosomal Recessive Congenital Hypomyelinating Neuropathy

  • Congenital Amyelinating Neuropathy

  • Congenital Hypomyelinating Neuropathy Autosomal Recessive

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating

  • Severe Congenital Hypomyelination

  • Hereditary Sensory Motor Neuropathy

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

  • Neuropathy, Hypomyelinating, Congenital, Type 1

  • Neuropathy, Motor And Sensory, Hereditary

  • Congenital Hypomyelinating Neuropathy

  • Hereditary Motor And Sensory Neuropathies

  • Hereditary Sensorimotor Neuropathy

  • Hmsn - [Hereditary Motor And Sensory Neuropathy]

  • Hsmn - [Hereditary Sensory And Motor Neuropathy]

  • Hereditary Motor And Sensory Neuropathy, Types I-Iv

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

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

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