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    DNAI2 dynein axonemal intermediate chain 2 [ Homo sapiens (human) ]

    Gene ID: 64446, updated on 3-Apr-2024

    Summary

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    Official Symbol
    DNAI2provided by HGNC
    Official Full Name
    dynein axonemal intermediate chain 2provided by HGNC
    Primary source
    HGNC:HGNC:18744
    See related
    Ensembl:ENSG00000171595 MIM:605483; AllianceGenome:HGNC:18744
    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
    DIC2; oda6; CILD9
    Summary
    The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]
    Expression
    Restricted expression toward testis (RPKM 10.6) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17q25.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (74274234..74314884)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75165033..75205531)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72270373..72311023)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12701 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12702 Neighboring gene uncharacterized protein MGC16275 Neighboring gene ribosomal protein L38 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72220111-72220644 Neighboring gene tweety family member 2 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72241021-72241915 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12703 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72280764-72281359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72285237-72285737 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:72292700-72292934 Neighboring gene uncharacterized LOC105371891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8928 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:72324530-72325444 Neighboring gene Sharpr-MPRA regulatory region 11842 Neighboring gene uncharacterized LOC107985078 Neighboring gene kinesin family member 19 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72348389-72348919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72353094-72353966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8929 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8930 Neighboring gene BTB domain containing 17

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia. Pennarun G, et al. Hum Genet, 2000 Dec. PMID 11153919
    2. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Olcese C, et al. Nat Commun, 2017 Feb 8. PMID 28176794, Free PMC Article
    3. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Knowles MR, et al. Am J Hum Genet, 2013 Jan 10. PMID 23261302, Free PMC Article
    4. A unified taxonomy for ciliary dyneins. Hom EF, et al. Cytoskeleton (Hoboken), 2011 Oct. PMID 21953912, Free PMC Article
    5. HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. Diggle CP, et al. PLoS Genet, 2014 Sep. PMID 25232951, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.
      Title: DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.
    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
    Primary ciliary dyskinesia 9
    MedGen: C2676235 OMIM: 612444 GeneReviews: Primary Ciliary Dyskinesia
    		Compare labs

    EBI GWAS Catalog

    Description
    Whole genome association scan for genetic polymorphisms influencing information processing speed.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dynein heavy chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dynein light chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule motor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cilium movement IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in outer dynein arm assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within outer dynein arm assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of axonemal dynein complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axoneme IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in dynein axonemal particle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of outer dynein arm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of outer dynein arm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dynein axonemal intermediate chain 2
    Names
    dynein, axonemal, intermediate polypeptide 2

    NCBI Reference Sequences (RefSeq)

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    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_016865.1 RefSeqGene

      Range
      4988..45638
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001172810.3 → NP_001166281.1  dynein axonemal intermediate chain 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses different acceptor splice sites in the 5' non-coding and the coding regions compared to variant 1. However, it maintains the reading frame, and encodes a shorter isoform (2) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AC103809, BC039582, BI464166
      Consensus CDS
      CCDS58589.1
      UniProtKB/TrEMBL
      J3QRG2
      Related
      ENSP00000461950.1, ENST00000582036.5
      Conserved Domains (2) summary
      COG2319
      Location:166 → 482
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:166 → 215
      7WD40; WD40 repeat [structural motif]

    2. NM_001353167.2 → NP_001340096.1  dynein axonemal intermediate chain 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC103809
      UniProtKB/TrEMBL
      J3QRG2
      Conserved Domains (3) summary
      COG2319
      Location:166 → 494
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:166 → 215
      7WD40; WD40 repeat [structural motif]
      pfam09422
      Location:479 → 627
      WTX; WTX protein

    3. NM_023036.6 → NP_075462.3  dynein axonemal intermediate chain 2 isoform 1

      See identical proteins and their annotated locations for NP_075462.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC103809, AF250288, BC039582, BI464166
      Consensus CDS
      CCDS11697.1
      UniProtKB/Swiss-Prot
      C9J0S6, Q8IUW4, Q9GZS0, Q9H179, Q9NT53
      UniProtKB/TrEMBL
      J3QRG2
      Related
      ENSP00000308312.6, ENST00000311014.11
      Conserved Domains (3) summary
      COG2319
      Location:166 → 494
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:166 → 215
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:166 → 472
      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 ...

    RNA

    1. NR_148379.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC103809, BC033013
      Related
      ENST00000579055.5

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      74274234..74314884
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525125.3 → XP_011523427.1  dynein axonemal intermediate chain 2 isoform X1

      UniProtKB/TrEMBL
      J3QRG2
      Conserved Domains (3) summary
      COG2319
      Location:166 → 494
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:166 → 215
      7WD40; WD40 repeat [structural motif]
      pfam09422
      Location:479 → 627
      WTX; WTX protein

    RNA

    1. XR_007065388.1 RNA Sequence

    2. XR_007065398.1 RNA Sequence

    3. XR_007065399.1 RNA Sequence

    4. XR_007065395.1 RNA Sequence

    5. XR_007065397.1 RNA Sequence

    6. XR_007065396.1 RNA Sequence

    7. XR_007065389.1 RNA Sequence

    8. XR_007065394.1 RNA Sequence

    9. XR_007065391.1 RNA Sequence

    10. XR_007065390.1 RNA Sequence

    11. XR_007065393.1 RNA Sequence

    12. XR_007065400.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      75165033..75205531
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316918.1 → XP_054172893.1  dynein axonemal intermediate chain 2 isoform X1

    RNA

    1. XR_008484878.1 RNA Sequence

    2. XR_008484887.1 RNA Sequence

    3. XR_008484888.1 RNA Sequence

    4. XR_008484884.1 RNA Sequence

    5. XR_008484886.1 RNA Sequence

    6. XR_008484885.1 RNA Sequence

    7. XR_008484879.1 RNA Sequence

    8. XR_008484883.1 RNA Sequence

    9. XR_008484881.1 RNA Sequence

    10. XR_008484880.1 RNA Sequence

    11. XR_008484882.1 RNA Sequence

    12. XR_008484889.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9GZS0.2 GenPept UniProtKB/Swiss-Prot:Q9GZS0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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