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

    Gene ID: 55172, updated on 5-Mar-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
    mouse all
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    Genomic context

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    Location:
    14q21.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (49625174..49635244, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (43823399..43833482, complement)
    105.20220307 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

    Bibliography

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    Related articles in PubMed

    1. 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
    2. 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
    3. 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
    4. The RPAP3-Cterminal domain identifies R2TP-like quaternary chaperones. Maurizy C, et al. Nat Commun, 2018 May 29. PMID 29844425, 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 (31) 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
    		Compare labs

    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_2023_10

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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