Dnaaf2 dynein, axonemal assembly factor 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dnaaf2provided by MGI
Official Full Name: dynein, axonemal assembly factor 2provided by MGI
Primary source: MGI:MGI:1923566
See related: Ensembl:ENSMUSG00000020973 AllianceGenome:MGI:1923566
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ktu; TU54; mknt; kintoun
Summary: This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in the human gene have been associated with primary ciliary dyskinesia. [provided by RefSeq, Sep 2015]
Expression: Ubiquitous expression in ovary adult (RPKM 19.8), adrenal adult (RPKM 18.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 C2; 12 28.73 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (69235861..69245203, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (69189087..69200083, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These findings support studies indicating that hypomorphic mutations of human DNAAF2 can result in ciliary dyskinesia and identify Dnaaf2 as an essential component of cilia function in vivo.
Title: A null allele of Dnaaf2 displays embryonic lethality and mimics human ciliary dyskinesia.
Observation of cilia orientation based on basal foot directions revealed that ciliary motility was not required in the alignment of airway cilia, whereas a strong requirement was observed in brain ependymal cells.
Title: The establishment of rotational polarity in the airway and ependymal cilia: analysis with a novel cilium motility mutant mouse.
Ktu/PF13 is one of the long-sought proteins involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment
Title: Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236862

D6S1904 (e-PCR)
- UniSTS:49754

D12Mit70 (e-PCR), detects polymorphism
- UniSTS:126889

AV032410 (e-PCR)
- UniSTS:165825

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axonemal dynein complex assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in axonemal dynein complex assembly	ISO Inferred from Sequence Orthology more info
involved_in axonemal dynein complex assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in cilium-dependent cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium-dependent cell motility	ISO Inferred from Sequence Orthology more info
involved_in cilium-dependent cell motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial cilium movement involved in extracellular fluid movement	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within epithelial cilium movement involved in extracellular fluid movement	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of left/right asymmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner dynein arm assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within outer dynein arm assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to retinoic acid	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in dynein axonemal particle	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
part_of protein folding chaperone complex	IEA Inferred from Electronic Annotation more info
part_of protein folding chaperone complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: protein kintoun

Names: dynein assembly factor 2, axonemal

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_027269.4 → NP_081545.3 protein kintoun

See identical proteins and their annotated locations for NP_081545.3

Status: REVIEWED

Source sequence(s)

BC055807, BC058344

Consensus CDS

CCDS25948.1

UniProtKB/Swiss-Prot

Q3T9I8, Q3U4G5, Q6P5G9, Q8BPI1, Q9CZC7

Related

ENSMUSP00000021356.6, ENSMUST00000021356.6

Conserved Domains (1) summary

pfam08190
Location:43 → 352

PIH1; pre-RNA processing PIH1/Nop17

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000078.7 Reference GRCm39 C57BL/6J

Range

69235861..69245203 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017314934.3 → XP_017170423.1 protein kintoun isoform X1

Conserved Domains (3) summary

PHA03169
Location:336 → 493

PHA03169; hypothetical protein; Provisional

pfam08190
Location:43 → 206

PIH1; pre-RNA processing PIH1/Nop17

pfam18201
Location:254 → 352

PIH1_CS; PIH1 CS-like domain