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

Gene ID: 64446, updated on 17-Jun-2019

Summary

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
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; 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

Genomic context

See DNAI2 in Genome Data Viewer
Location:
17q25.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (74274210..74314884)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72270386..72311023)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized protein MGC16275 Neighboring gene ribosomal protein L38 Neighboring gene tweety family member 2 Neighboring gene uncharacterized LOC105371891 Neighboring gene uncharacterized LOC107985078 Neighboring gene kinesin family member 19 Neighboring gene BTB domain containing 17

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Ciliary dyskinesia, primary, 9
MedGen: C2676235 OMIM: 612444 GeneReviews: Primary Ciliary Dyskinesia
Compare labs

NHGRI GWAS Catalog

Description
Whole genome association scan for genetic polymorphisms influencing information processing speed.
NHGRI GWA Catalog

Pathways from BioSystems

  • Huntington's disease, organism-specific biosystem (from KEGG)
    Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • Huntington's disease, conserved biosystem (from KEGG)
    Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to ATP-dependent microtubule motor activity, plus-end-directed IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dynein heavy chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dynein light chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule motor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cilium movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium movement IMP
Inferred from Mutant Phenotype
more info
PubMed 
determination of left/right symmetry IMP
Inferred from Mutant Phenotype
more info
PubMed 
microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
outer dynein arm assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
outer dynein arm assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
axonemal dynein complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
axoneme IDA
Inferred from Direct Assay
more info
PubMed 
axoneme IMP
Inferred from Mutant Phenotype
more info
PubMed 
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 
outer dynein arm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
outer dynein arm IMP
Inferred from Mutant Phenotype
more info
PubMed 
sperm flagellum IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    4964..45638
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001172810.3NP_001166281.1  dynein intermediate chain 2, axonemal 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/Swiss-Prot
    Q9GZS0
    Related
    ENSP00000461950.1, ENST00000582036.5
    Conserved Domains (2) summary
    COG2319
    Location:166482
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:166215
    7WD40; WD40 repeat [structural motif]
  2. NM_001353167.2NP_001340096.1  dynein intermediate chain 2, axonemal isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC103809
    Conserved Domains (3) summary
    COG2319
    Location:166494
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:166215
    7WD40; WD40 repeat [structural motif]
    pfam09422
    Location:479627
    WTX; WTX protein
  3. NM_023036.6NP_075462.3  dynein intermediate chain 2, axonemal 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
    Q9GZS0
    Related
    ENSP00000308312.6, ENST00000311014.11
    Conserved Domains (3) summary
    COG2319
    Location:166494
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:166215
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:166472
    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_148379.1 RNA Sequence

    Status: REVIEWED

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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    74274210..74314884
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450886.1XP_024306654.1  dynein intermediate chain 2, axonemal isoform X7

    Conserved Domains (3) summary
    COG2319
    Location:23351
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2372
    7WD40; WD40 repeat [structural motif]
    pfam09422
    Location:336484
    WTX; WTX protein
  2. XM_024450885.1XP_024306653.1  dynein intermediate chain 2, axonemal isoform X7

    Conserved Domains (3) summary
    COG2319
    Location:23351
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:2372
    7WD40; WD40 repeat [structural motif]
    pfam09422
    Location:336484
    WTX; WTX protein
  3. XM_024450875.1XP_024306643.1  dynein intermediate chain 2, axonemal isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:166494
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:166215
    7WD40; WD40 repeat [structural motif]
    pfam09422
    Location:479627
    WTX; WTX protein
  4. XM_011525125.2XP_011523427.1  dynein intermediate chain 2, axonemal isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:166494
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:166215
    7WD40; WD40 repeat [structural motif]
    pfam09422
    Location:479627
    WTX; WTX protein
  5. XM_024450880.1XP_024306648.1  dynein intermediate chain 2, axonemal isoform X3

    Conserved Domains (3) summary
    COG2319
    Location:166482
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:166215
    7WD40; WD40 repeat [structural motif]
    pfam09422
    Location:467615
    WTX; WTX protein
  6. XM_024450881.1XP_024306649.1  dynein intermediate chain 2, axonemal isoform X4

    Conserved Domains (3) summary
    sd00039
    Location:165221
    7WD40; WD40 repeat [structural motif]
    pfam09422
    Location:441589
    WTX; WTX protein
    cl25539
    Location:166434
    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_024450874.1XP_024306642.1  dynein intermediate chain 2, axonemal isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:166494
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:166215
    7WD40; WD40 repeat [structural motif]
    pfam09422
    Location:479627
    WTX; WTX protein
  8. XM_024450879.1XP_024306647.1  dynein intermediate chain 2, axonemal isoform X2

    Conserved Domains (2) summary
    COG2319
    Location:166494
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:166215
    7WD40; WD40 repeat [structural motif]
  9. XM_024450883.1XP_024306651.1  dynein intermediate chain 2, axonemal isoform X6

    Conserved Domains (2) summary
    COG2319
    Location:166494
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:166215
    7WD40; WD40 repeat [structural motif]
  10. XM_024450884.1XP_024306652.1  dynein intermediate chain 2, axonemal isoform X6

    Conserved Domains (2) summary
    COG2319
    Location:166494
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:166215
    7WD40; WD40 repeat [structural motif]
  11. XM_024450882.1XP_024306650.1  dynein intermediate chain 2, axonemal isoform X5

    Conserved Domains (2) summary
    COG2319
    Location:166482
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:166215
    7WD40; WD40 repeat [structural motif]
  12. XM_024450877.1XP_024306645.1  dynein intermediate chain 2, axonemal isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:166494
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:166215
    7WD40; WD40 repeat [structural motif]
    pfam09422
    Location:479627
    WTX; WTX protein
  13. XM_024450876.1XP_024306644.1  dynein intermediate chain 2, axonemal isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:166494
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:166215
    7WD40; WD40 repeat [structural motif]
    pfam09422
    Location:479627
    WTX; WTX protein
  14. XM_024450878.1XP_024306646.1  dynein intermediate chain 2, axonemal isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:166494
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:166215
    7WD40; WD40 repeat [structural motif]
    pfam09422
    Location:479627
    WTX; WTX protein
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