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DNAAF2 dynein axonemal assembly factor 2 [ Homo sapiens (human) ]

Gene ID: 55172, updated on 3-Nov-2024

Summary

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Official Symbol
DNAAF2provided by HGNC
Official Full Name
dynein axonemal assembly factor 2provided by HGNC
Primary source
HGNC:HGNC:20188
See related
Ensembl:ENSG00000165506 MIM:612517; AllianceGenome:HGNC:20188
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KTU; PF13; CILD10; C14orf104
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 this gene have been associated with primary ciliary dyskinesia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in testis (RPKM 4.1), kidney (RPKM 3.9) and 25 other tissues See more
Orthologs
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Genomic context

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See DNAAF2 in Genome Data Viewer
Location:
14q21.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (49625174..49635244, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (43823399..43833482, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50091892..50101962, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5697 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50087617-50088167 Neighboring gene ribosomal protein L36a like Neighboring gene alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8318 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50099325-50100085 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5699 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50100846-50101606 Neighboring gene Sharpr-MPRA regulatory region 10705 Neighboring gene DNA polymerase epsilon 2, accessory subunit Neighboring gene serine/threonine kinase 16 pseudogene 1 Neighboring gene RNA, U6atac small nuclear 30, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2. Dong L, et al. BMC Pediatr, 2023 Dec 5. PMID 38053031, Free PMC Article
  2. Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family. Sun M, et al. J Assist Reprod Genet, 2020 Sep. PMID 32638265, Free PMC Article
  3. C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. Fassad MR, et al. Am J Hum Genet, 2018 May 3. PMID 29727692, Free PMC Article
  4. Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. Paff T, et al. Am J Hum Genet, 2017 Jan 5. PMID 28041644, Free PMC Article
  5. Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. Omran H, et al. Nature, 2008 Dec 4. PMID 19052621, Free PMC Article

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2.
    Title: Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2.
  2. Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family.
    Title: Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family.
  3. 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.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Primary ciliary dyskinesia 10
MedGen: C2675867 OMIM: 612518 GeneReviews: Primary Ciliary Dyskinesia
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10563

Gene Ontology Provided by GOA

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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cilium-dependent cell motility IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium-dependent cell motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in epithelial cilium movement involved in extracellular fluid movement IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in establishment of left/right asymmetry IEA
Inferred from Electronic Annotation
more info
  
involved_in establishment of localization in cell IEA
Inferred from Electronic Annotation
more info
  
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
  
involved_in inner dynein arm assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in outer dynein arm assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in protein stabilization NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in response to retinoic acid IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
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 cytosol IDA
Inferred from Direct Assay
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 IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
protein kintoun
Names
dynein assembly factor 2, axonemal
kintoun

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.

Genomic

  1. NG_013070.1 RefSeqGene

    Range
    4987..15057
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001083908.2 → NP_001077377.1  protein kintoun isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AL139099
    Consensus CDS
    CCDS45100.1
    UniProtKB/Swiss-Prot
    Q9NVR5
    Related
    ENSP00000384862.3, ENST00000406043.3
    Conserved Domains (1) summary
    pfam08190
    Location:43 → 348
    PIH1; pre-RNA processing PIH1/Nop17

  2. NM_001378453.1 → NP_001365382.1  protein kintoun isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL139099

  3. NM_018139.3 → NP_060609.2  protein kintoun isoform 1

    See identical proteins and their annotated locations for NP_060609.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL139099
    Consensus CDS
    CCDS9691.2
    UniProtKB/Swiss-Prot
    B9WS54, C0JAP7, Q86TR1, Q86TY8, Q969Z5, Q9NVR5
    Related
    ENSP00000298292.8, ENST00000298292.13
    Conserved Domains (1) summary
    pfam08190
    Location:43 → 348
    PIH1; pre-RNA processing PIH1/Nop17

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    49625174..49635244 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    43823399..43833482 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NVR5.2 GenPept UniProtKB/Swiss-Prot:Q9NVR5

Gene LinkOut

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