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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
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Genomic context

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See DNAI2 in Genome Data Viewer
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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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

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