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    DYNC2I2 dynein 2 intermediate chain 2 [ Homo sapiens (human) ]

    Gene ID: 89891, updated on 8-Jul-2021

    Summary

    Official Symbol
    DYNC2I2provided by HGNC
    Official Full Name
    dynein 2 intermediate chain 2provided by HGNC
    Primary source
    HGNC:HGNC:28296
    See related
    Ensembl:ENSG00000119333 MIM:613363
    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
    DIC5; WDR34; FAP133; SRTD11; CFAP133; bA216B9.3
    Summary
    This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Defects in this gene are a cause of short-rib thoracic dysplasia 11 with or without polydactyly. [provided by RefSeq, Mar 2014]
    Expression
    Ubiquitous expression in testis (RPKM 24.0), kidney (RPKM 17.4) and 25 other tissues See more
    Orthologs
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    Genomic context

    See DYNC2I2 in Genome Data Viewer
    Location:
    9q34.11
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (128633653..128656847, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131395932..131419126, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene GLE1 RNA export mediator Neighboring gene uncharacterized LOC101929270 Neighboring gene RNA, U7 small nuclear 171 pseudogene Neighboring gene spectrin alpha, non-erythrocytic 1 Neighboring gene uncharacterized LOC105376287 Neighboring gene vesicle transport through interaction with t-SNAREs 1B pseudogene 4 Neighboring gene high mobility group AT-hook 1 pseudogene 4 Neighboring gene SET nuclear proto-oncogene

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genetic variants associated with disordered eating.
    GeneReviews: Not available
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    GeneReviews: Not available
    Short-rib thoracic dysplasia 11 with or without polydactyly
    MedGen: C3810200 OMIM: 615633 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC20486

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dynein heavy chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables dynein light chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables dynein light chain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in intraciliary retrograde transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intraciliary transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in microtubule-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in centriole ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in ciliary plasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in ciliary tip TAS
    Traceable Author Statement
    more info
     
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cilium TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of cytoplasmic dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of cytoplasmic dynein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in filopodium IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    cytoplasmic dynein 2 intermediate chain 2
    Names
    WD repeat domain 34
    WD repeat-containing protein 34

    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_034056.1 RefSeqGene

      Range
      5001..28190
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_052844.4NP_443076.2  cytoplasmic dynein 2 intermediate chain 2

      See identical proteins and their annotated locations for NP_443076.2

      Status: REVIEWED

      Source sequence(s)
      AL356481
      Consensus CDS
      CCDS6906.2
      UniProtKB/Swiss-Prot
      Q96EX3
      Related
      ENSP00000361800.2, ENST00000372715.7
      Conserved Domains (3) summary
      COG2319
      Location:106516
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:220264
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:217515
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    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_000009.12 Reference GRCh38.p13 Primary Assembly

      Range
      128633653..128656847 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011519179.2XP_011517481.1  cytoplasmic dynein 2 intermediate chain 2 isoform X1

      Conserved Domains (3) summary
      COG2319
      Location:357490
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:165217
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:358486
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
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