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

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; 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

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_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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 Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14S984 (e-PCR)
- UniSTS:40308

A005E12 (e-PCR)
- UniSTS:12667

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

NG_013070.1 RefSeqGene

Range

4987..15057

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
NM_001378453.1 → NP_001365382.1 protein kintoun isoform 3

Status: REVIEWED

Source sequence(s)

AL139099
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