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    DRP2 dystrophin related protein 2 [ Homo sapiens (human) ]

    Gene ID: 1821, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DRP2provided by HGNC
    Official Full Name
    dystrophin related protein 2provided by HGNC
    Primary source
    HGNC:HGNC:3032
    See related
    Ensembl:ENSG00000102385 MIM:300052; AllianceGenome:HGNC:3032
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DRP-2
    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]
    Annotation information
    Note: DRP2 (Gene ID: 1821) and DPYSL2 (Gene ID: 1808) share the DRP2 symbol/alias in common. DRP2 is a widely used alternative name for dihydropyrimidinase like 2 (DPYSL2), which can be confused with the official symbol for dystrophin related protein 2 (DRP2). [06 Jul 2018]
    Expression
    Biased expression in brain (RPKM 5.3), ovary (RPKM 0.8) and 3 other tissues See more
    Orthologs
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    Genomic context

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    See DRP2 in Genome Data Viewer
    Location:
    Xq22.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (101219786..101264502)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (99663879..99708607)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (100474775..100519491)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene centromere protein I Neighboring gene YWHAQ pseudogene 8 Neighboring gene TATA-box binding protein associated factor 7 like Neighboring gene RNA, U6 small nuclear 934, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease. Sivera R, et al. Neurology, 2024 Apr 9. PMID 38513194
    2. Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. Toma C, et al. Mol Psychiatry, 2014 Jul. PMID 23999528
    3. Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes. Sedivá A, et al. J Clin Immunol, 2007 Nov. PMID 17851739
    4. Characterization of DRP2, a novel human dystrophin homologue. Roberts RG, et al. Nat Genet, 1996 Jun. PMID 8640231
    5. Contribution of the different modules in the utrophin carboxy-terminal region to the formation and regulation of the DAP complex. Tommasi di Vignano A, et al. FEBS Lett, 2000 Apr 14. PMID 10767429

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.
      Title: Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.
    2. Among the genes found disrupted in this study, there is evidence suggesting that YWHAZ and also the X-linked DRP2 may be considered as novel autism candidate genes.
      Title: Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Charcot-Marie-Tooth disease
    MedGen: C0007959 GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC133255

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in central nervous system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in synapse organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in synaptic signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    dystrophin-related protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016403.1 RefSeqGene

      Range
      4843..49559
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001171184.2 → NP_001164655.1  dystrophin-related protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001164655.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK295843, BC111695, DA324498, Z68331, Z70280
      Consensus CDS
      CCDS55465.1
      UniProtKB/Swiss-Prot
      Q13474
      Related
      ENSP00000444752.1, ENST00000541709.5
      Conserved Domains (5) summary
      cd00176
      Location:33 → 261
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:279 → 307
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:530 → 578
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:308 → 426
      EF-hand_2; EF hand
      pfam09069
      Location:430 → 521
      EF-hand_3; EF-hand

    2. NM_001939.3 → NP_001930.2  dystrophin-related protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001930.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC111695, Z68331, Z70280
      Consensus CDS
      CCDS14480.2
      UniProtKB/Swiss-Prot
      A6ZKI5, A8K1B0, B1B1F3, B4DIZ0, Q13474
      Related
      ENSP00000378635.3, ENST00000395209.8
      Conserved Domains (5) summary
      cd00176
      Location:111 → 339
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:357 → 385
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:608 → 656
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:386 → 504
      EF-hand_2; EF hand
      pfam09069
      Location:508 → 599
      EF-hand_3; EF-hand

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      101219786..101264502
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029333.2 → XP_016884822.1  dystrophin-related protein 2 isoform X2

    2. XM_047441894.1 → XP_047297850.1  dystrophin-related protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A6ZKI5, A8K1B0, B1B1F3, B4DIZ0, Q13474
      Related
      ENSP00000385038.1, ENST00000402866.5

    3. XM_047441895.1 → XP_047297851.1  dystrophin-related protein 2 isoform X3

      UniProtKB/TrEMBL
      Q59G04

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      99663879..99708607
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326639.1 → XP_054182614.1  dystrophin-related protein 2 isoform X2

    2. XM_054326638.1 → XP_054182613.1  dystrophin-related protein 2 isoform X1

    3. XM_054326640.1 → XP_054182615.1  dystrophin-related protein 2 isoform X3

      UniProtKB/TrEMBL
      Q59G04
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13474.2 GenPept UniProtKB/Swiss-Prot:Q13474

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