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Aliases for DRP2 Gene

Aliases for DRP2 Gene

  • Dystrophin Related Protein 2 2 3 5
  • DRP-2 3 4

External Ids for DRP2 Gene

Previous GeneCards Identifiers for DRP2 Gene

  • GC0XP095756
  • GC0XP097436
  • GC0XP098510
  • GC0XP099246
  • GC0XP100281
  • GC0XP100361
  • GC0XP100474
  • GC0XP090278

Summaries for DRP2 Gene

Entrez Gene Summary for DRP2 Gene

  • 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]

GeneCards Summary for DRP2 Gene

DRP2 (Dystrophin Related Protein 2) is a Protein Coding gene. Diseases associated with DRP2 include dejerine-sottas disease. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is UTRN.

UniProtKB/Swiss-Prot for DRP2 Gene

  • Required for normal myelination and for normal organization of the cytoplasm and the formation of Cajal bands in myelinating Schwann cells. Required for normal PRX location at appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane. Possibly involved in membrane-cytoskeleton interactions of the central nervous system.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DRP2 Gene

Genomics for DRP2 Gene

Regulatory Elements for DRP2 Gene

Promoters for DRP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DRP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for DRP2 Gene

Chromosome:
X
Start:
101,219,769 bp from pter
End:
101,264,497 bp from pter
Size:
44,729 bases
Orientation:
Plus strand

Genomic View for DRP2 Gene

Genes around DRP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DRP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DRP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DRP2 Gene

Proteins for DRP2 Gene

  • Protein details for DRP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13474-DRP2_HUMAN
    Recommended name:
    Dystrophin-related protein 2
    Protein Accession:
    Q13474
    Secondary Accessions:
    • A6ZKI5
    • A8K1B0
    • B1B1F3
    • B4DIZ0

    Protein attributes for DRP2 Gene

    Size:
    957 amino acids
    Molecular mass:
    107962 Da
    Quaternary structure:
    • Interacts with PRX; this enhances phosphorylation. Identified in a dystroglycan complex that contains at least PRX, DRP2, UTRN, DMD and DAG1.
    SequenceCaution:
    • Sequence=AAC50538.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI11696.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAF82514.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DRP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DRP2 Gene

Proteomics data for DRP2 Gene at MOPED

Post-translational modifications for DRP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DRP2 Gene

No data available for DME Specific Peptides for DRP2 Gene

Domains & Families for DRP2 Gene

Gene Families for DRP2 Gene

Suggested Antigen Peptide Sequences for DRP2 Gene

Graphical View of Domain Structure for InterPro Entry

Q13474

UniProtKB/Swiss-Prot:

DRP2_HUMAN :
  • Contains 1 WW domain.
  • Contains 2 spectrin repeats.
Domain:
  • Contains 1 WW domain.
Similarity:
  • Contains 2 spectrin repeats.
  • Contains 1 ZZ-type zinc finger.
genes like me logo Genes that share domains with DRP2: view

Function for DRP2 Gene

Molecular function for DRP2 Gene

GENATLAS Biochemistry:
dystrophin related protein 2,expressed in brain and spinal cord,homolog of Apo-dystrophin 2 (Dp116)
UniProtKB/Swiss-Prot Function:
Required for normal myelination and for normal organization of the cytoplasm and the formation of Cajal bands in myelinating Schwann cells. Required for normal PRX location at appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane. Possibly involved in membrane-cytoskeleton interactions of the central nervous system.

Phenotypes for DRP2 Gene

genes like me logo Genes that share phenotypes with DRP2: view

Animal Models for DRP2 Gene

MGI Knock Outs for DRP2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DRP2 Gene

Localization for DRP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DRP2 Gene

Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell projection, dendrite. Perikaryon. Cell membrane; Peripheral membrane protein. Note=Detected in Schwann cells at periaxonal myelin membranes. {ECO:0000250 UniProtKB:Q05AA6}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DRP2 Gene COMPARTMENTS Subcellular localization image for DRP2 gene
Compartment Confidence
plasma membrane 4
cytosol 2
nucleus 2
cytoskeleton 1
extracellular 1

Gene Ontology (GO) - Cellular Components for DRP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0030054 cell junction IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with DRP2: view

Pathways & Interactions for DRP2 Gene

SuperPathways for DRP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DRP2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DRP2 Gene

Drugs & Compounds for DRP2 Gene

No Compound Related Data Available

Transcripts for DRP2 Gene

Unigene Clusters for DRP2 Gene

Dystrophin related protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DRP2 Gene

No ASD Table

Relevant External Links for DRP2 Gene

GeneLoc Exon Structure for
DRP2
ECgene alternative splicing isoforms for
DRP2

Expression for DRP2 Gene

mRNA expression in normal human tissues for DRP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DRP2 Gene

This gene is overexpressed in Nerve - Tibial (x26.1).

Protein differential expression in normal tissues from HIPED for DRP2 Gene

This gene is overexpressed in Spinal cord (35.1) and Bone (32.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DRP2 Gene



SOURCE GeneReport for Unigene cluster for DRP2 Gene Hs.159291

mRNA Expression by UniProt/SwissProt for DRP2 Gene

Q13474-DRP2_HUMAN
Tissue specificity: Detected in fetal brain.
genes like me logo Genes that share expression patterns with DRP2: view

Protein tissue co-expression partners for DRP2 Gene

Primer Products

In Situ Assay Products

Orthologs for DRP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DRP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DRP2 35
  • 99.72 (n)
  • 99.9 (a)
DRP2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DRP2 36
  • 94 (a)
OneToOne
DRP2 35
  • 91.85 (n)
  • 94.36 (a)
dog
(Canis familiaris)
Mammalia DRP2 35
  • 92.72 (n)
  • 95.72 (a)
DRP2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Drp2 16
Drp2 36
  • 95 (a)
OneToOne
Drp2 35
  • 90.67 (n)
  • 95.09 (a)
oppossum
(Monodelphis domestica)
Mammalia DRP2 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DRP2 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Drp2 35
  • 90.42 (n)
  • 95.5 (a)
chicken
(Gallus gallus)
Aves DRP2 35
  • 79.58 (n)
  • 87.35 (a)
DRP2 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DRP2 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia drp2 35
  • 67.83 (n)
  • 72.24 (a)
Str.4975 35
zebrafish
(Danio rerio)
Actinopterygii drp2 36
  • 72 (a)
OneToOne
drp2 35
  • 68.99 (n)
  • 72.27 (a)
Species with no ortholog for DRP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DRP2 Gene

ENSEMBL:
Gene Tree for DRP2 (if available)
TreeFam:
Gene Tree for DRP2 (if available)

Paralogs for DRP2 Gene

Paralogs for DRP2 Gene

(3) SIMAP similar genes for DRP2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DRP2: view

Variants for DRP2 Gene

Sequence variations from dbSNP and Humsavar for DRP2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs7066252 - 101,235,944(+) GGTCT(A/C/G)TTGGT reference, missense, utr-variant-5-prime
rs1475972 -- 101,263,176(-) CACAC(A/G)TACTG utr-variant-3-prime
rs3747280 -- 101,250,628(+) AGGAA(C/G)GGTGG intron-variant
rs4024584 -- 101,224,506(+) ACTAA(A/G)CATGC intron-variant
rs4024585 -- 101,224,519(+) TTCTG(A/G)CATTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DRP2 Gene

Variant ID Type Subtype PubMed ID
nsv524411 CNV Loss 19592680

Variation tolerance for DRP2 Gene

Residual Variation Intolerance Score: 8.43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.67; 65.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DRP2 Gene

HapMap Linkage Disequilibrium report
DRP2
Human Gene Mutation Database (HGMD)
DRP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DRP2 Gene

Disorders for DRP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DRP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
dejerine-sottas disease
  • dss
- elite association - COSMIC cancer census association via MalaCards
Search DRP2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DRP2

Genetic Association Database (GAD)
DRP2
Human Genome Epidemiology (HuGE) Navigator
DRP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DRP2
genes like me logo Genes that share disorders with DRP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DRP2 Gene

Publications for DRP2 Gene

  1. Characterization of DRP2, a novel human dystrophin homologue. (PMID: 8640231) Roberts R.G. … Bobrow M. (Nat. Genet. 1996) 2 3 4 23 67
  2. Contribution of the different modules in the utrophin carboxy- terminal region to the formation and regulation of the DAP complex. (PMID: 10767429) Tommasi di Vignano A. … Dente L. (FEBS Lett. 2000) 3 23
  3. Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. (PMID: 23999528) Toma C. … Cormand B. (Mol. Psychiatry 2014) 3
  4. Plant dynamin-related protein families DRP1 and DRP2 in plant development. (PMID: 20491667) Bednarek S.Y. … Backues S.K. (Biochem. Soc. Trans. 2010) 23
  5. C-reactive protein gene polymorphisms affect plasma CRP and homocysteine concentrations in subjects with and without angiographically confirmed coronary artery disease. (PMID: 18401567) PasaliA8 D. … StavljeniA8-Rukavina A. (Mol. Biol. Rep. 2009) 3

Products for DRP2 Gene

Sources for DRP2 Gene

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