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Aliases for DNAI2 Gene

Aliases for DNAI2 Gene

  • Dynein Axonemal Intermediate Chain 2 2 3
  • Dynein, Axonemal, Intermediate Polypeptide 2 2 3
  • Dynein, Axonemal, Intermediate Chain 2 3 5
  • Axonemal Dynein Intermediate Chain 2 4
  • Dynein Intermediate Chain 2 2
  • CILD9 3
  • DIC2 3

External Ids for DNAI2 Gene

Previous GeneCards Identifiers for DNAI2 Gene

  • GC17P072292
  • GC17P075328
  • GC17P072734
  • GC17P072867
  • GC17P069782
  • GC17P067680

Summaries for DNAI2 Gene

Entrez Gene Summary for DNAI2 Gene

  • 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]

GeneCards Summary for DNAI2 Gene

DNAI2 (Dynein Axonemal Intermediate Chain 2) is a Protein Coding gene. Diseases associated with DNAI2 include ciliary dyskinesia, primary, 9, with or without situs inversus and kartagener syndrome. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include microtubule motor activity. An important paralog of this gene is WDR63.

UniProtKB/Swiss-Prot for DNAI2 Gene

  • Part of the dynein complex of respiratory cilia.

Gene Wiki entry for DNAI2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAI2 Gene

Genomics for DNAI2 Gene

Regulatory Elements for DNAI2 Gene

Promoters for DNAI2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DNAI2 on UCSC Golden Path with GeneCards custom track

Genomic Location for DNAI2 Gene

Chromosome:
17
Start:
74,274,232 bp from pter
End:
74,314,884 bp from pter
Size:
40,653 bases
Orientation:
Plus strand

Genomic View for DNAI2 Gene

Genes around DNAI2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAI2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAI2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAI2 Gene

Proteins for DNAI2 Gene

  • Protein details for DNAI2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZS0-DNAI2_HUMAN
    Recommended name:
    Dynein intermediate chain 2, axonemal
    Protein Accession:
    Q9GZS0
    Secondary Accessions:
    • C9J0S6
    • Q8IUW4
    • Q9H179
    • Q9NT53

    Protein attributes for DNAI2 Gene

    Size:
    605 amino acids
    Molecular mass:
    68821 Da
    Quaternary structure:
    • Consists of at least two heavy chains and a number of intermediate and light chains (Probable). Interacts with DNAAF2 (By similarity). Interacts with PIH1D3 (By similarity). Interacts with HEATR2; probably involved in outer arm dynein assembly (PubMed:25232951).
    SequenceCaution:
    • Sequence=CAB70790.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for DNAI2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAI2 Gene

Proteomics data for DNAI2 Gene at MOPED

Post-translational modifications for DNAI2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAI2 Gene

No data available for DME Specific Peptides for DNAI2 Gene

Domains & Families for DNAI2 Gene

Gene Families for DNAI2 Gene

Protein Domains for DNAI2 Gene

Suggested Antigen Peptide Sequences for DNAI2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9GZS0

UniProtKB/Swiss-Prot:

DNAI2_HUMAN :
  • Belongs to the dynein intermediate chain family.
  • Contains 7 WD repeats.
Family:
  • Belongs to the dynein intermediate chain family.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with DNAI2: view

Function for DNAI2 Gene

Molecular function for DNAI2 Gene

UniProtKB/Swiss-Prot Function:
Part of the dynein complex of respiratory cilia.

Gene Ontology (GO) - Molecular Function for DNAI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 25232951
genes like me logo Genes that share ontologies with DNAI2: view
genes like me logo Genes that share phenotypes with DNAI2: view

Human Phenotype Ontology for DNAI2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DNAI2 Gene

Localization for DNAI2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAI2 Gene

Cytoplasm, cytoskeleton, cilium axoneme.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DNAI2 Gene COMPARTMENTS Subcellular localization image for DNAI2 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for DNAI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009897 external side of plasma membrane IEA --
GO:0036126 sperm flagellum IDA 18950741
GO:0036157 outer dynein arm IMP 18950741
genes like me logo Genes that share ontologies with DNAI2: view

Pathways & Interactions for DNAI2 Gene

genes like me logo Genes that share pathways with DNAI2: view

Pathways by source for DNAI2 Gene

1 KEGG pathway for DNAI2 Gene

Interacting Proteins for DNAI2 Gene

Gene Ontology (GO) - Biological Process for DNAI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042384 cilium assembly IMP 11153919
genes like me logo Genes that share ontologies with DNAI2: view

No data available for SIGNOR curated interactions for DNAI2 Gene

Drugs & Compounds for DNAI2 Gene

No Compound Related Data Available

Transcripts for DNAI2 Gene

Unigene Clusters for DNAI2 Gene

Dynein, axonemal, intermediate chain 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DNAI2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b
SP1: - -
SP2: -
SP3: - -
SP4: - - - -
SP5:

Relevant External Links for DNAI2 Gene

GeneLoc Exon Structure for
DNAI2
ECgene alternative splicing isoforms for
DNAI2

Expression for DNAI2 Gene

mRNA expression in normal human tissues for DNAI2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNAI2 Gene

This gene is overexpressed in Testis (x25.6), Fallopian Tube (x6.5), and Cervix - Endocervix (x5.3).

Protein differential expression in normal tissues from HIPED for DNAI2 Gene

This gene is overexpressed in Platelet (47.3) and Heart (21.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DNAI2 Gene



SOURCE GeneReport for Unigene cluster for DNAI2 Gene Hs.147472

mRNA Expression by UniProt/SwissProt for DNAI2 Gene

Q9GZS0-DNAI2_HUMAN
Tissue specificity: Highly expressed in trachea and testis.
genes like me logo Genes that share expression patterns with DNAI2: view

Protein tissue co-expression partners for DNAI2 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for DNAI2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAI2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DNAI2 35
  • 87.15 (n)
  • 90.49 (a)
DNAI2 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNAI2 35
  • 86.09 (n)
  • 87.84 (a)
DNAI2 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnaic2 35
  • 85.06 (n)
  • 87.37 (a)
Dnaic2 16
Dnaic2 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DNAI2 35
  • 98.95 (n)
  • 99.34 (a)
DNAI2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnai2 35
  • 85.63 (n)
  • 87.59 (a)
oppossum
(Monodelphis domestica)
Mammalia DNAI2 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAI2 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAI2 35
  • 74.91 (n)
  • 71.89 (a)
DNAI2 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNAI2 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnai2 35
  • 70.1 (n)
  • 74.6 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.17555 35
LOC101884977 35
  • 69.63 (n)
  • 71.23 (a)
DNAI2 (2 of 2) 36
  • 67 (a)
OneToMany
dnai2a 36
  • 54 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG10859 37
  • 29 (a)
CG1571 37
  • 29 (a)
CG6053 37
  • 47 (a)
CG6053 35
  • 55.82 (n)
  • 47.66 (a)
CG10859 36
  • 27 (a)
OneToMany
CG1571 36
  • 28 (a)
OneToMany
CG6053 36
  • 44 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011539 35
  • 57.36 (n)
  • 51.89 (a)
Species with no ortholog for DNAI2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DNAI2 Gene

ENSEMBL:
Gene Tree for DNAI2 (if available)
TreeFam:
Gene Tree for DNAI2 (if available)

Paralogs for DNAI2 Gene

Paralogs for DNAI2 Gene

(2) SIMAP similar genes for DNAI2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with DNAI2: view

Variants for DNAI2 Gene

Sequence variations from dbSNP and Humsavar for DNAI2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_033880 -
rs28725418 - 74,310,152(+) AGAAC(A/G)TAGCC nc-transcript-variant, reference, missense
rs4125 -- 74,285,829(-) CTTCC(A/G)GGAAG intron-variant
rs1531493 -- 74,285,420(-) ATGCC(C/T)GGTCA intron-variant
rs735147 -- 74,298,115(+) ATTCA(A/G)GAGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DNAI2 Gene

Variant ID Type Subtype PubMed ID
dgv12e196 CNV Duplication 17116639
dgv372n27 CNV Gain 19166990
nsv517569 CNV Gain+Loss 19592680
esv2751770 CNV Gain 17911159
nsv509673 CNV Insertion 20534489
nsv833538 CNV Gain 17160897
nsv833539 CNV Loss 17160897
esv33995 CNV Loss 17666407
esv1978492 CNV Deletion 18987734
esv2716213 CNV Deletion 23290073
esv1307217 CNV Deletion 17803354
dgv468e201 CNV Deletion 23290073

Variation tolerance for DNAI2 Gene

Residual Variation Intolerance Score: 67.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.45; 95.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNAI2 Gene

HapMap Linkage Disequilibrium report
DNAI2
Human Gene Mutation Database (HGMD)
DNAI2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAI2 Gene

Disorders for DNAI2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for DNAI2 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 9, with or without situs inversus
  • ciliary dyskinesia, primary, 9
kartagener syndrome
  • kartagener's syndrome
primary ciliary dyskinesia
  • kartagener syndrome
bronchiectasis
  • kartagener syndrome
ciliary dyskinesia, primary, 1, with or without situs inversus
  • kartagener syndrome
- elite association - COSMIC cancer census association via MalaCards
Search DNAI2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DNAI2_HUMAN
  • Ciliary dyskinesia, primary, 9 (CILD9) [MIM:612444]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269 PubMed:18950741, ECO:0000269 PubMed:25186273}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DNAI2

Genetic Association Database (GAD)
DNAI2
Human Genome Epidemiology (HuGE) Navigator
DNAI2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAI2
genes like me logo Genes that share disorders with DNAI2: view

No data available for Genatlas for DNAI2 Gene

Publications for DNAI2 Gene

  1. The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia. (PMID: 11153919) Pennarun G. … Duriez B. (Hum. Genet. 2000) 2 3 4 23 67
  2. A unified taxonomy for ciliary dyneins. (PMID: 21953912) Hom E.F. … King S.M. (Cytoskeleton (Hoboken) 2011) 2 3
  3. Interaction of SQSTM1 with the motor protein dynein--SQSTM1 is required for normal dynein function and trafficking. (PMID: 25015291) Calderilla-Barbosa L. … Wooten M.C. (J. Cell. Sci. 2014) 3
  4. HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. (PMID: 25232951) Diggle C.P. … Mill P. (PLoS Genet. 2014) 3
  5. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. (PMID: 23261302) Knowles M.R. … Zariwala M.A. (Am. J. Hum. Genet. 2013) 3

Products for DNAI2 Gene

Sources for DNAI2 Gene

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