Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DNAI2 Gene

Aliases for DNAI2 Gene

  • Dynein Axonemal Intermediate Chain 2 2 3 5
  • Dynein, Axonemal, Intermediate Polypeptide 2 2 3
  • Dynein Intermediate Chain 2, Axonemal 3
  • 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAI2 Gene

Genomics for DNAI2 Gene

Regulatory Elements for DNAI2 Gene

Enhancers for DNAI2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G074239 1.5 FANTOM5 Ensembl ENCODE dbSUPER 21.8 -33.6 -33593 3.3 PKNOX1 ZSCAN4 BHLHE40 CEBPB MAX CEBPG PRDM10 PRDM4 MYC CD300E DNAI2 TTYH2 CD300C CD300LB MGC16275 RPL38 CD300LF CD300A CD300LD
GH17G074295 1.5 FANTOM5 Ensembl ENCODE 14.6 +22.2 22158 1.5 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 NCOA1 REST ZNF592 TTYH2 DNAI2 MGC16275 RPL38 GGA3 RAB37 ENSG00000266106
GH17G074234 1.1 Ensembl ENCODE dbSUPER 18.2 -38.9 -38855 2.4 HDAC1 WRNIP1 ZMYM3 ZEB2 GATAD2B EBF1 ZBTB40 IKZF1 SCRT2 ZBTB20 TTYH2 DNAI2 MGC16275 RPL38 CD300A CD300E ENSG00000264272
GH17G074248 0.9 ENCODE dbSUPER 17.2 -24.1 -24078 2.4 HDGF MXI1 ZSCAN4 MNT ZNF662 EP300 NONO POLR2A TARDBP TTYH2 DNAI2 MGC16275 RPL38 ENSG00000264272
GH17G074281 1.7 FANTOM5 Ensembl ENCODE 8.8 +8.6 8573 1.8 HDGF ATF1 TCF12 ZNF766 GLIS2 GATA2 ELK1 FOS SP3 JUNB CD300E TTYH2 NAT9 NUP85 NT5C DNAI2 CD300C CD300LB TMEM104 CD300LF
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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

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.
Family:
  • Belongs to the dynein intermediate chain family.
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:0003774 motor activity IEA --
GO:0003777 microtubule motor activity IMP 11153919
GO:0005515 protein binding 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

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNAI2 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
plasma membrane 2
nucleus 2

Gene Ontology (GO) - Cellular Components for DNAI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005858 axonemal dynein complex IMP 11153919
GO:0005874 microtubule IEA --
GO:0005929 cilium IEA --
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

Gene Ontology (GO) - Biological Process for DNAI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003341 cilium movement IMP 18950741
GO:0007368 determination of left/right symmetry IMP 18950741
GO:0030030 cell projection organization IEA --
GO:0036158 outer dynein arm assembly IMP 18950741
GO:0060271 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:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for DNAI2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DNAI2 Gene:

DNAI2

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.

Evidence on tissue expression from TISSUES for DNAI2 Gene

  • Nervous system(4)
  • Lung(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAI2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • lung
  • trachea
Abdomen:
  • spleen
Pelvis:
  • ovary
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns with DNAI2: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia DNAI2 34 35
  • 98.95 (n)
cow
(Bos Taurus)
Mammalia DNAI2 34 35
  • 87.15 (n)
dog
(Canis familiaris)
Mammalia DNAI2 34 35
  • 86.09 (n)
rat
(Rattus norvegicus)
Mammalia Dnai2 34
  • 85.63 (n)
mouse
(Mus musculus)
Mammalia Dnaic2 34 16 35
  • 85.06 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAI2 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAI2 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAI2 34 35
  • 74.91 (n)
lizard
(Anolis carolinensis)
Reptilia DNAI2 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnai2 34
  • 70.1 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC101884977 34
  • 69.63 (n)
DNAI2 (2 of 2) 35
  • 67 (a)
OneToMany
dnai2a 35
  • 54 (a)
OneToMany
Dr.17555 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011539 34
  • 57.36 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6053 36 34 35
  • 55.82 (n)
CG10859 36 35
  • 29 (a)
CG1571 36 35
  • 29 (a)
Species where no ortholog for DNAI2 was found in the sources mined by GeneCards:
  • 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
rs137852998 Pathogenic 74,299,780(+) GCCAC(C/G/T)GAGAC nc-transcript-variant, reference, stop-gained
rs397515358 Pathogenic 74,286,974(+) CCCCC(G/T)AGATC intron-variant
rs397515565 Pathogenic 74,310,164(+) CTTCC(A/C/G/T)TAAGC splice-donor-variant
rs752924362 Pathogenic 74,309,345(+) TATCT(A/C/G)GGACT nc-transcript-variant, reference, stop-gained
rs764971993 Pathogenic 74,312,205(+) GGCAG(-/A)CGCCA intron-variant, nc-transcript-variant, reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
dgv12e196 CNV duplication 17116639
dgv3282n100 CNV gain 25217958
dgv372n27 CNV gain 19166990
dgv427e201 CNV deletion 23290073
dgv5768n54 CNV gain 21841781
esv1307217 CNV deletion 17803354
esv1978492 CNV deletion 18987734
esv2716213 CNV deletion 23290073
esv2751770 CNV gain 17911159
esv2761978 CNV gain 21179565
esv33995 CNV loss 17666407
esv3554765 CNV deletion 23714750
esv3573820 CNV gain 25503493
esv3641230 CNV gain 21293372
esv3641237 CNV gain 21293372
nsv1072751 CNV deletion 25765185
nsv1116415 CNV deletion 24896259
nsv1147741 CNV deletion 26484159
nsv509673 CNV insertion 20534489
nsv517569 CNV gain+loss 19592680
nsv833538 CNV gain 17160897
nsv833539 CNV loss 17160897
nsv954601 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
DNAI2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

- 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 22 64
  2. HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. (PMID: 25232951) Diggle C.P. … Mill P. (PLoS Genet. 2014) 3 4 64
  3. A unified taxonomy for ciliary dyneins. (PMID: 21953912) Hom E.F. … King S.M. (Cytoskeleton (Hoboken) 2011) 2 3 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. (PMID: 18950741) Loges N.T. … Omran H. (Am. J. Hum. Genet. 2008) 3 4 64

Products for DNAI2 Gene

Sources for DNAI2 Gene

Content
Loading form....