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

Gene ID: 55172, updated on 5-Sep-2021

Summary

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
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

See DNAAF2 in Genome Data Viewer
Location:
14q21.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (49625174..49635244, complement)
105.20201022 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 ribosomal protein L36a pseudogene 42 Neighboring gene ribosomal protein L36a like Neighboring gene alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 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

Expression

  • Project title: 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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
PubMed 
involved_in establishment of left/right asymmetry 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 response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
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
 

General protein information

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
    5001..15057
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001083908.2NP_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:43348
    PIH1; pre-RNA processing PIH1/Nop17
  2. NM_001378453.1NP_001365382.1  protein kintoun isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL139099
  3. NM_018139.3NP_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
    Q9NVR5
    Related
    ENSP00000298292.8, ENST00000298292.13
    Conserved Domains (1) summary
    pfam08190
    Location:43348
    PIH1; pre-RNA processing PIH1/Nop17

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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