DNAAF2 Gene
protein-coding GIFtS: 44
GCID: GC14M050092
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dynein, axonemal, assembly factor 2(Previous name: chromosome 14 open reading frame 104 )
(Previous symbol: C14orf104)
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Aliases
for DNAAF2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Dynein, Axonemal, Assembly Factor 21 2 | | Dynein Assembly Factor 2, Axonemal2 3 | | C14orf1041 2 3 5 | | FLJ105631 | | KTU1 2 3 5 | | Chromosome 14 Open Reading Frame 1041 | | CILD101 2 5 | | Kintoun1 | | PF131 2 | | Protein Kintoun2 |
Export aliases for DNAAF2 gene to outside databases |
Summaries
for DNAAF2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for DNAAF2:
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 encodingdifferent isoforms have been found for this gene.(provided by RefSeq, Oct 2009)
UniProtKB/Swiss-Prot: KTU_HUMAN, Q9NVR5Function: Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility incilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transportloads them for the ciliary compartment
Gene Wiki entry for DNAAF2 (C14orf104)
|
Genomic Views
for DNAAF2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000014.8 NC_018925.1 NT_026437.12
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for DNAAF2
Other transcription factors
Search SABiosciences Chromatin IP Primers for DNAAF2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNAAF2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 14q21.3 Ensembl cytogenetic band: 14q21.3 HGNC cytogenetic band: 14q21.3DNAAF2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 14 GeneLoc Exon Structure GeneLoc location for GC14M050092: view genomic region
(about GC identifiers)
Start:
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50,091,892 bp from pter |
End:
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50,101,948 bp from pter |
Size:
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10,057 bases |
Orientation:
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minus strand |
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Proteins
for DNAAF2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: KTU_HUMAN, Q9NVR5 (See
protein sequence)Recommended Name: Protein kintoun Size: 837 amino acids; 91114 Da
Subunit: Interacts with DNAI2 and HSPA1A (By similarity)
Subcellular location: Cytoplasm. Note=Localizes in the apical cytoplasm around the gamma-tubulin-positivepericentriolar region, not in the cilia
Sequence caution: Sequence=BAA91684.1; Type=Erroneous initiation; Sequence=CAD66572.1; Type=Erroneous initiation;
Secondary accessions: B9WS54 C0JAP7 Q86TR1 Q86TY8 Q969Z5Alternative splicing: 2 isoforms: Q9NVR5-1 Q9NVR5-2 (May be due to exon skipping)Explore the universe of human proteins at neXtProt for DNAAF2: NX_Q9NVR5
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NVR5
DNAAF2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001077377.1 NP_060609.2
ENSEMBL proteins: ENSP00000298292 ENSP00000384862
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table
DNAAF2 for ontologies About GeneDecksing
DNAAF2 Antibody Products:
Assay Products for DNAAF2: |
Protein
Domains /
Families
for DNAAF2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DNAAF2 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9NVR5ProtoNet protein and cluster: Q9NVR5 UniProtKB/Swiss-Prot: KTU_HUMAN, Q9NVR5Similarity: Belongs to the PIH1 family. Kintoun subfamily |
Function
for DNAAF2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: KTU_HUMAN, Q9NVR5Function: Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility incilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transportloads them for the ciliary compartment
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNAAF2 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNAAF2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for DNAAF2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNAAF2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAAF2 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
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DNAAF2 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for DNAAF2:
Animal Models:
1 MGI phenotypic allele  for Dnaaf2 (no phenotypes)
DNAAF2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for DNAAF2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DNAAF2
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table
DNAAF2 for ontologies About GeneDecksing
|
Drugs & Compounds
for DNAAF2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for DNAAF2
Search CenterWatch for drugs/clinical trials and news about DNAAF2 / KTU
|
Transcripts
for DNAAF2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for DNAAF2 gene (2 alternative transcripts): NM_001083908.1 NM_018139.2 Unigene Cluster for DNAAF2: Dynein, axonemal, assembly factor 2 Hs.231761 [show with all ESTs]Unigene Representative Sequence: NM_0181392 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000298292(uc001wws.4) ENST00000406043(uc001wwt.4)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNAAF2 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNAAF2 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript Custom all cDNA clones Services for DNAAF2 | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DNAAF2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNAAF2 |
Additional cDNA sequence: AK001425.1 BC011400.1 BC013322.1 BX248264.1 BX248765.1 FJ158843.1 7 DOTS entries: DT.100782792 DT.310557 DT.92430654 DT.95280786 DT.100702858 DT.92430650 DT.100696518 24/108 AceView cDNA sequences (see all 108): BM927175 T10804 BX248264 CR619602 BI821093 BG428211 CB163897 BM784552 AA331943 BC011400 BX248765 AI690556 BI962556 BI551983 BQ434673 BU680642 BX388688 AU128118 BI549023 BM263217 AI815543 AK001425 AW193384 BI789208
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for DNAAF2 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 |
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| SP1: | | | | | | | | | |
| SP2: | | | | | - | | | |
ECgene alternative splicing isoforms for DNAAF2
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Expression
for DNAAF2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| DNAAF2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGGAAATTG
About this image
See DNAAF2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DNAAF2
SOURCE GeneReport for Unigene cluster: Hs.231761
SABiosciences Custom PCR Arrays for DNAAF2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DNAAF2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DNAAF2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DNAAF2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DNAAF2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAAF2 |
Orthologs
for DNAAF2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
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This gene was present in the common ancestor of animals.
Orthologs for DNAAF2 gene from 5/16 species (see all 16) About this table
ENSEMBL Gene Tree for DNAAF2 (if available)
TreeFam Gene Tree for DNAAF2 (if available) |
Paralogs
for DNAAF2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for DNAAF2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 14 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DNAAF2 (50091892 - 50101948 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DNAAF2: --
Human Gene Mutation Database (HGMD): DNAAF2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DNAAF2 |
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Disorders
/ Diseases
for DNAAF2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
DNAAF2 for disorders About GeneDecksing
OMIM gene information: 612517
OMIM disorders: 612518
UniProtKB/Swiss-Prot: KTU_HUMAN, Q9NVR5
Defects in DNAAF2 are the cause of primary ciliary dyskinesia type 10 (CILD10) [MIM:612518]. CILD is anautosomal recessive disorder characterized by axonemal abnormalities of motile cilia. Respiratory infections leadingto chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertilityis often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus,due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliarydyskinesia associated with situs inversus is referred to as Kartagener syndrome
7  diseases for DNAAF2: About MalaCardsciliary dyskinesia primary ciliary dyskinesia ciliary dyskinesia, primary, 10 situs inversus
kartagener syndrome bronchiectasis acne
Export disorders for DNAAF2 gene to outside databases
|
Publications
for DNAAF2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for DNAAF2 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with DNAAF2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. (PubMed id 19052621)1, 2 Omran H....Takeda H. (2008)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (2003)
- Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
- Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
- Comparison of substrate specificity of the ubiquitin ligases Nedd4 and Nedd4-2 using proteome arrays. (PubMed id 19953087)1 Persaud A....Rotin D. (2009)
- Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
- Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)2 Daub H.... Mann M. (2008)
- A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
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External Searches for DNAAF2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing DNAAF2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DNAAF2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DNAAF2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for DNAAF2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for DNAAF2 gene:
Search GeneIP for patents involving DNAAF2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DNAAF2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for DNAAF2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DNAAF2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DNAAF2 | | | OriGene Protein Over-expression Lysate for DNAAF2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DNAAF2 | | OriGene 3'-UTR Clone for DNAAF2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNAAF2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNAAF2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for DNAAF2 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DNAAF2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DNAAF2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNAAF2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DNAAF2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DNAAF2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DNAAF2 |
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 | | | DNAAF2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAAF2 |
|  |  |  | | | | Search ThermoFisher Antibodies for DNAAF2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNAAF2 |
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