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

Gene ID: 1821, updated on 11-Jun-2021

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
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

See DRP2 in Genome Data Viewer
Location:
Xq22.1
Exon count:
24
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (101219786..101264502)
105.20201022 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
located_in postsynaptic density IEA
Inferred from Electronic Annotation
more info
 

General protein information

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
    5001..49553
    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
    Q13474
    UniProtKB/TrEMBL
    A0A024RCH3
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017029333.1XP_016884822.1  dystrophin-related protein 2 isoform X1

  2. XM_017029334.1XP_016884823.1  dystrophin-related protein 2 isoform X2

    Conserved Domains (4) summary
    cd00201
    Location:1139
    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:262310
    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:40158
    EF-hand_2; EF hand
    pfam09069
    Location:162253
    EF-hand_3; EF-hand
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