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

    Gene ID: 1821, updated on 17-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DRP2 in Genome Data Viewer
    Location:
    Xq22.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (101219786..101264502)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (99663879..99708607)
    105.20220307 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

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    dystrophin-related protein 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001171184.2NP_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:33261
      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:279307
      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:530578
      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:308426
      EF-hand_2; EF hand
      pfam09069
      Location:430521
      EF-hand_3; EF-hand
    2. NM_001939.3NP_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:111339
      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:357385
      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:608656
      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:386504
      EF-hand_2; EF hand
      pfam09069
      Location:508599
      EF-hand_3; EF-hand

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_017029333.2XP_016884822.1  dystrophin-related protein 2 isoform X2

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

      UniProtKB/Swiss-Prot
      A6ZKI5, A8K1B0, B1B1F3, B4DIZ0, Q13474
      Related
      ENSP00000385038.1, ENST00000402866.5
    3. XM_047441895.1XP_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_054326639.1XP_054182614.1  dystrophin-related protein 2 isoform X2

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

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

      UniProtKB/TrEMBL
      Q59G04