DNAI2 Gene (Protein Coding)

Dynein Axonemal Intermediate Chain 2

GC17P074274
GIFtS:
39
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] See more...

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 4
  • CILD9 2 3
  • DIC2 2 3
  • Axonemal Dynein Intermediate Chain 2 4
  • Dynein Intermediate Chain 2 2
  • DNAI2 5

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 and Primary Ciliary Dyskinesia. Among its related pathways are Parkinson disease. Gene Ontology (GO) annotations related to this gene include microtubule motor activity. An important paralog of this gene is DNAI3.

UniProtKB/Swiss-Prot Summary for DNAI2 Gene

Gene Wiki entry for DNAI2 Gene

Additional gene information for DNAI2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAI2 Gene

Genomics for DNAI2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DNAI2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNAI2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAI2

Top Transcription factor binding sites by QIAGEN in the DNAI2 gene promoter:
  • C/EBPbeta
  • HEN1
  • NF-kappaB1
  • Nkx2-2
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • RP58
  • STAT3

Genomic Locations for DNAI2 Gene

Genomic Locations for DNAI2 Gene
chr17:74,274,229-74,314,884
(GRCh38/hg38)
Size:
40,656 bases
Orientation:
Plus strand
chr17:72,270,386-72,311,023
(GRCh37/hg19)
Size:
40,638 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 Structure • Gene Density

RefSeq DNA sequence for DNAI2 Gene

Proteins for DNAI2 Gene

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  • 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 DNAAF6/PIH1D3 (PubMed:28176794). 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

Protein Expression for DNAI2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DNAI2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAI2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for DNAI2 Gene

Domains & Families for DNAI2 Gene

Gene Families for DNAI2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for DNAI2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DNAI2 Gene

GenScript: Design optimal peptide antigens:
  • Axonemal dynein intermediate chain 2 (DNAI2_HUMAN)

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

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Molecular function for DNAI2 Gene

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

Phenotypes From GWAS Catalog for DNAI2 Gene

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
GO:0045503 dynein light chain binding IBA 21873635
GO:0045504 dynein heavy chain binding IBA 21873635
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAI2

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 4
plasma membrane 3
cytosol 3
nucleus 2
extracellular 1
mitochondrion 1
golgi apparatus 1

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DNAI2 Gene

Pathways & Interactions for DNAI2 Gene

PathCards logo

SuperPathways for DNAI2 Gene

SuperPathway Contained pathways
1 Parkinson disease
Huntington disease
.46
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:0007018 microtubule-based movement IBA 21873635
GO:0007368 determination of left/right symmetry IMP 18950741
GO:0030030 cell projection organization IEA --
GO:0036158 outer dynein arm assembly IBA,IMP 18950741
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

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  1. Drug
No Compound Related Data Available

Transcripts for DNAI2 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DNAI2 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAI2

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

Expression for DNAI2 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNAI2 Gene

mRNA expression in normal human tissues for DNAI2 Gene
mRNA expression by GTEx for DNAI2 GenemRNA expression by BioGPS 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 and MOPED for DNAI2 Gene



Protein tissue co-expression partners for DNAI2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.3)
  • Lung(3.3)

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
Regions:
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 30 31
  • 98.95 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DNAI2 30 31
  • 87.15 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DNAI2 30 31
  • 86.09 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Dnai2 30
  • 85.63 (n)
Mouse
(Mus musculus)
 Mammalia Dnaic2 30 17 31
  • 85.06 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia DNAI2 31
  • 76 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia DNAI2 31
  • 70 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves DNAI2 30 31
  • 74.91 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia DNAI2 31
  • 71 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia dnai2 30
  • 70.1 (n)
Zebrafish
(Danio rerio)
 Actinopterygii LOC101884977 30
  • 69.63 (n)
DNAI2 (2 of 2) 31
  • 67 (a)
 OneToMany
dnai2a 31
  • 54 (a)
 OneToMany
Dr.17555 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011539 30
  • 57.36 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG6053 30 31 32
  • 55.82 (n)
 OneToMany
CG1571 31 32
  • 28 (a)
 OneToMany
CG10859 31 32
  • 27 (a)
 OneToMany
Species where no ortholog for DNAI2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for DNAI2: view image

Paralogs for DNAI2 Gene

Paralogs for DNAI2 Gene

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

  • DNAI2_HUMAN
  • J3KT23_HUMAN
  • J3QRG2_HUMAN
  • Q4G115_HUMAN
genes like me logo Genes that share paralogs with DNAI2: view

Variants for DNAI2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAI2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
4953 Pathogenic: Ciliary dyskinesia, primary, 9 74,310,164(+) G/A SPLICE_DONOR_VARIANT
638979 Uncertain Significance: Primary ciliary dyskinesia 74,281,963(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
642256 Uncertain Significance: Primary ciliary dyskinesia 74,285,145(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
642362 Uncertain Significance: Primary ciliary dyskinesia 74,287,104(+) G/A INTRON_VARIANT
643530 Uncertain Significance: Primary ciliary dyskinesia 74,287,039(+) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for DNAI2 Gene

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)

Additional Variant Information for DNAI2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for DNAI2 Gene

MalaCards: The human disease database

(15) MalaCards diseases for DNAI2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 9
  • cild9
primary ciliary dyskinesia
  • pcd
kartagener syndrome
  • kartagener's syndrome
ciliary dyskinesia, primary, 1
  • pcd
situs inversus
  • situs inversus viscerum
- 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.

Additional Disease Information for DNAI2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (Human genetics 2000) 2 3 4 23
  2. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. (PMID: 28176794) Olcese C … Mitchison HM (Nature communications 2017) 3 4
  3. HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. (PMID: 25232951) Diggle CP … Mill P (PLoS genetics 2014) 3 4
  4. A unified taxonomy for ciliary dyneins. (PMID: 21953912) Hom EF … King SM (Cytoskeleton (Hoboken, N.J.) 2011) 2 3
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

ExternalLinks

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