Human Gene DNAI2 (ENST00000311014.11_9) from GENCODE V47lift37
  Description: dynein axonemal intermediate chain 2, transcript variant 1 (from RefSeq NM_023036.6)
Gencode Transcript: ENST00000311014.11_9
Gencode Gene: ENSG00000171595.14_12
Transcript (Including UTRs)
   Position: hg19 chr17:72,270,373-72,311,023 Size: 40,651 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr17:72,277,957-72,310,355 Size: 32,399 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:72,270,373-72,311,023)mRNA (may differ from genome)Protein (605 aa)
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-  Comments and Description Text from UniProtKB
  ID: DNAI2_HUMAN
DESCRIPTION: RecName: Full=Dynein intermediate chain 2, axonemal; AltName: Full=Axonemal dynein intermediate chain 2;
FUNCTION: Part of the dynein complex of respiratory cilia.
SUBUNIT: Consists of at least two heavy chains and a number of intermediate and light chains. Interacts with DNAAF2 (By similarity).
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme (By similarity).
TISSUE SPECIFICITY: Highly expressed in trachea and testis.
DISEASE: Defects in DNAI2 are the cause of primary ciliary dyskinesia type 9 (CILD9) [MIM:612444]. CILD is an autosomal recessive disorder characterized by axonemal 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 situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
SIMILARITY: Belongs to the dynein intermediate chain family.
SIMILARITY: Contains 5 WD repeats.
SEQUENCE CAUTION: Sequence=CAB70790.1; Type=Miscellaneous discrepancy; Note=Intron retention;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DNAI2
Diseases sorted by gene-association score: ciliary dyskinesia, primary, 9, with or without situs inversus* (900), kartagener syndrome* (245), ciliary dyskinesia, primary, 1, with or without situs inversus* (179), primary ciliary dyskinesia* (149), primary ciliary dyskinesia 9: dnai2-related primary ciliary dyskinesia* (100), situs inversus (8), visceral heterotaxy (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.08 RPKM in Testis
Total median expression: 32.21 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -39.50123-0.321 Picture PostScript Text
3' UTR -105.40351-0.300 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR017986 - WD40_repeat_dom

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
117289 - Nucleoporin domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Peptidase/esterase 'gauge' domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - DPP6 N-terminal domain-like

ModBase Predicted Comparative 3D Structure on Q9GZS0
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003774 motor activity
GO:0003777 microtubule motor activity
GO:0005515 protein binding
GO:0045503 dynein light chain binding
GO:0045504 dynein heavy chain binding
GO:0008574 ATP-dependent microtubule motor activity, plus-end-directed

Biological Process:
GO:0003341 cilium movement
GO:0007368 determination of left/right symmetry
GO:0030030 cell projection organization
GO:0036158 outer dynein arm assembly
GO:0060271 cilium assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005858 axonemal dynein complex
GO:0005874 microtubule
GO:0005929 cilium
GO:0005930 axoneme
GO:0009897 external side of plasma membrane
GO:0030286 dynein complex
GO:0036126 sperm flagellum
GO:0036157 outer dynein arm
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  BC039582 - Homo sapiens dynein, axonemal, intermediate chain 2, mRNA (cDNA clone MGC:48740 IMAGE:5752153), complete cds.
BC033013 - Homo sapiens dynein, axonemal, intermediate chain 2, mRNA (cDNA clone MGC:26735 IMAGE:4826432), complete cds.
AF250288 - Homo sapiens dynein axonemal intermediate chain (DNAI2) mRNA, complete cds.
AJ295276 - Homo sapiens mRNA for intermediate dynein chain (DNAI2 gene).
HQ257886 - Synthetic construct Homo sapiens clone IMAGE:100072195 dynein, axonemal, intermediate chain 2 (DNAI2) gene, encodes complete protein.
KJ899462 - Synthetic construct Homo sapiens clone ccsbBroadEn_08856 DNAI2 gene, encodes complete protein.
AL137526 - Homo sapiens mRNA; cDNA DKFZp434M1618 (from clone DKFZp434M1618); partial cds.
JD080487 - Sequence 61511 from Patent EP1572962.
JD046473 - Sequence 27497 from Patent EP1572962.
JD201738 - Sequence 182762 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: C9J0S6, DNAI2 , DNAI2_HUMAN, ENST00000311014.1, ENST00000311014.10, ENST00000311014.2, ENST00000311014.3, ENST00000311014.4, ENST00000311014.5, ENST00000311014.6, ENST00000311014.7, ENST00000311014.8, ENST00000311014.9, NM_023036, Q8IUW4, Q9GZS0, Q9H179, Q9NT53, uc317ows.1, uc317ows.2
UCSC ID: ENST00000311014.11_9
RefSeq Accession: NM_023036.6
Protein: Q9GZS0 (aka DNAI2_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DNAI2:
pcd (Primary Ciliary Dyskinesia)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.