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    DYNC2I1 dynein 2 intermediate chain 1 [ Homo sapiens (human) ]

    Gene ID: 55112, updated on 8-Jul-2021

    Summary

    Official Symbol
    DYNC2I1provided by HGNC
    Official Full Name
    dynein 2 intermediate chain 1provided by HGNC
    Primary source
    HGNC:HGNC:21862
    See related
    Ensembl:ENSG00000126870 MIM:615462
    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
    DIC6; SRPS6; SRTD8; WDR60; FAP163; CFAP163
    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) and may facilitate the 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. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]
    Expression
    Broad expression in testis (RPKM 15.3), fat (RPKM 3.5) and 21 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See DYNC2I1 in Genome Data Viewer
    Location:
    7q36.3
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (158839245..158958695)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (158631936..158738880)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 76 Neighboring gene extended synaptotagmin 2 Neighboring gene putative uncharacterized protein FLJ46204 Neighboring gene LINC00689 intron CAGE-defined high expression enhancer Neighboring gene long intergenic non-protein coding RNA 689 Neighboring gene vasoactive intestinal peptide receptor 2 Neighboring gene VISTA enhancer hs1753

    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
    Identification of ten loci associated with height highlights new biological pathways in human growth.
    GeneReviews: Not available
    Short-rib thoracic dysplasia 8 with or without polydactyly
    MedGen: C3809691 OMIM: 615503 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ10300, FLJ23575

    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 cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic skeletal system morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intraciliary retrograde transport IDA
    Inferred from Direct Assay
    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
    colocalizes_with centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with ciliary base IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ciliary base IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 TAS
    Traceable Author Statement
    more info
     
    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 extracellular space HDA PubMed 
    colocalizes_with interphase microtubule organizing center IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in pericentriolar material IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    cytoplasmic dynein 2 intermediate chain 1
    Names
    WD repeat domain 60
    WD repeat-containing protein 60
    testicular secretory protein Li 66

    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_034051.2 RefSeqGene

      Range
      22314..111945
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001350914.2NP_001337843.1  cytoplasmic dynein 2 intermediate chain 1 isoform b

      Status: REVIEWED

      Source sequence(s)
      AC004863, AC124833
      Conserved Domains (3) summary
      COG2319
      Location:581971
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:599627
      7WD40; WD40 repeat [structural motif]
      cl26511
      Location:5289
      Neuromodulin_N; Gap junction protein N-terminal region
    2. NM_001350915.2NP_001337844.1  cytoplasmic dynein 2 intermediate chain 1 isoform c

      Status: REVIEWED

      Source sequence(s)
      AC004863, AC124833
      Conserved Domains (2) summary
      COG2319
      Location:436826
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:454482
      7WD40; WD40 repeat [structural motif]
    3. NM_001350916.2NP_001337845.1  cytoplasmic dynein 2 intermediate chain 1 isoform d

      Status: REVIEWED

      Source sequence(s)
      AC004863, AC124833
      Conserved Domains (2) summary
      COG2319
      Location:140530
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:426462
      7WD40; WD40 repeat [structural motif]
    4. NM_001350917.2NP_001337846.1  cytoplasmic dynein 2 intermediate chain 1 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variant 6, encodes isoform e.
      Source sequence(s)
      AC004863, AC124833
      Conserved Domains (2) summary
      COG2319
      Location:211601
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:497533
      7WD40; WD40 repeat [structural motif]
    5. NM_001350918.2NP_001337847.1  cytoplasmic dynein 2 intermediate chain 1 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variant 5, encodes isoform e.
      Source sequence(s)
      AC004863, AC124833
      Conserved Domains (2) summary
      COG2319
      Location:211601
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:497533
      7WD40; WD40 repeat [structural motif]
    6. NM_018051.5NP_060521.4  cytoplasmic dynein 2 intermediate chain 1 isoform a

      See identical proteins and their annotated locations for NP_060521.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC124833, AL137660, BC014491, BM718580, DB072968
      Consensus CDS
      CCDS47757.1
      UniProtKB/Swiss-Prot
      Q8WVS4
      UniProtKB/TrEMBL
      A0A140VK66
      Related
      ENSP00000384290.3, ENST00000407559.8
      Conserved Domains (3) summary
      COG2319
      Location:6271017
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:645673
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:912984
      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_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      158839245..158958695
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716041.2XP_006716104.1  cytoplasmic dynein 2 intermediate chain 1 isoform X1

      Conserved Domains (3) summary
      COG2319
      Location:6301020
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:648676
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:915987
      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 ...
    2. XM_011516368.2XP_011514670.1  cytoplasmic dynein 2 intermediate chain 1 isoform X3

      Conserved Domains (2) summary
      COG2319
      Location:623946
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:648676
      7WD40; WD40 repeat [structural motif]
    3. XM_017012382.1XP_016867871.1  cytoplasmic dynein 2 intermediate chain 1 isoform X5

    4. XM_011516367.2XP_011514669.1  cytoplasmic dynein 2 intermediate chain 1 isoform X2

      Conserved Domains (3) summary
      COG2319
      Location:6301020
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:648676
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:915987
      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 ...
    5. XM_011516369.2XP_011514671.1  cytoplasmic dynein 2 intermediate chain 1 isoform X4

      Conserved Domains (3) summary
      COG2319
      Location:584974
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:602630
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:869941
      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 ...
    6. XM_017012381.2XP_016867870.1  cytoplasmic dynein 2 intermediate chain 1 isoform X4

      Conserved Domains (3) summary
      COG2319
      Location:584974
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:602630
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:869941
      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 ...
    7. XM_005249549.1XP_005249606.1  cytoplasmic dynein 2 intermediate chain 1 isoform X6

      Conserved Domains (3) summary
      COG2319
      Location:439829
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:457485
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:724796
      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 ...
    8. XM_017012388.1XP_016867877.1  cytoplasmic dynein 2 intermediate chain 1 isoform X7

      Conserved Domains (2) summary
      COG2319
      Location:140530
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:426462
      7WD40; WD40 repeat [structural motif]

    RNA

    1. XR_001744823.1 RNA Sequence

    2. XR_001744824.1 RNA Sequence

    3. XR_001744825.1 RNA Sequence

    4. XR_001744826.1 RNA Sequence

    5. XR_428179.2 RNA Sequence

    6. XR_242045.2 RNA Sequence

    7. XR_001744827.1 RNA Sequence

    8. XR_001744828.1 RNA Sequence

    9. XR_002956461.1 RNA Sequence

    10. XR_927486.2 RNA Sequence

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