• Gene id: 55172

Gene Summary

• Gene Symbol: DNAAF2   Gene   UCSC   Ensembl
• Aliases: C14orf104, CILD10, KTU, PF13
• Gene name: dynein axonemal assembly factor 2
• Alternate names: protein kintoun, dynein assembly factor 2, axonemal, kintoun,
• Gene location: 14q21.3 (49635243: 49625173)     Exons: 3     NC_000014.9
• Gene summary(Entrez): 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 h
• OMIM: 618755

SNPs

rs397515341

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000014.9   g.49633937_49633952dup
NC_000014.8   g.50100655_50100670dup
NG_013070.1   g.6280_6295dup
NM_018139.2   c.1199_1214dup
NM_001083908.1   c.1199_1214dup
NP_060609.2   p.Gly406fs
NP_001077377.1   p.Gly406fs|SEQ=[GCCACGCAGGTATCGTG/GCCACGCAGGTATCGTGCCACGCA

rs137853191

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.49635127G>A
NC_000014.9   g.49635127G>C
NC_000014.9   g.49635127G>T
NC_000014.8   g.50101845G>A
NC_000014.8   g.50101845G>C
NC_000014.8   g.50101845G>T
NG_013070.1   g.5104C>T
NG_013070.1   g.5104C>G
NG_013070.1   g.5104C>A
NM_018139.2   c.23C>T
NM_01813  

Protein Summary

• Protein general information: Q9NVR5  
  • Name: Protein kintoun (Dynein assembly factor 2, axonemal)
  • Length: 837  
  • Mass: 91114
• Sequence:

  MAKAAASSSLEDLDLSGEEVQRLTSAFQDPEFRRMFSQYAEELTDPENRRRYEAEITALERERGVEVRFVHPEPG
  HVLRTSLDGARRCFVNVCSNALVGAPSSRPGSGGDRGAAPGSHWSLPYSLAPGREYAGRSSSRYMVYDVVFHPDA
  LALARRHEGFRQMLDATALEAVEKQFGVKLDRRNAKTLKAKYKGTPEAAVLRTPLPGVIPARPDGEPKGPLPDFP
  YPYQYPAAPGPRAPSPPEAALQPAPTEPRYSVVQRHHVDLQDYRCSRDSAPSPVPHELVITIELPLLRSAEQAAL
  EVTRKLLCLDSRKPDYRLRLSLPYPVDDGRGKAQFNKARRQLVVTLPVVLPAARREPAVAVAAAAPEESADRSGT
  DGQACASAREGEAGPARSRAEDGGHDTCVAGAAGSGVTTLGDPEVAPPPAAAGEERVPKPGEQDLSRHAGSPPGS
  VEEPSPGGENSPGGGGSPCLSSRSLAWGSSAGRESARGDSSVETREESEGTGGQRSACAMGGPGTKSGEPLCPPL
  LCNQDKETLTLLIQVPRIQPQSLQGDLNPLWYKLRFSAQDLVYSFFLQFAPENKLSTTEPVISISSNNAVIELAK
  SPESHGHWREWYYGVNNDSLEERLFVNEENVNEFLEEVLSSPFKQSMSLTPPLIEVLQVTDNKIQINAKLQECSN
  SDQLQGKEERVNEESHLTEKEYIEHCNTPTTDSDSSIAVKALQIDSFGLVTCFQQESLDVSQMILGKSQQPESKM
  QSEFIKEKSATCSNEEKDNLNESVITEEKETDGDHLSSLLNKTTVHNIPGFDSIKETNMQDGSVQVIKDHVTNCA
  FSFQNSLLYDLD

• Structural information:
  • Interpro: IPR034727  IPR012981  IPR041442  
  • DIP: 59041
  • STRING: ENSP00000298292
• Other Databases: GeneCards:  DNAAF2  Malacards:  DNAAF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070286	axonemal dynein complex assembly	IBA	biological process
GO:0060285	cilium-dependent cell motility	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070286	axonemal dynein complex assembly	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0032526	response to retinoic acid	IEA	biological process
GO:0010033	response to organic substance	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0060285	cilium-dependent cell motility	IEA	biological process
GO:0070286	axonemal dynein complex assembly	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0070286	axonemal dynein complex assembly	IMP	biological process
GO:0060285	cilium-dependent cell motility	IMP	biological process

Diseases

Associated diseases	References
Primary ciliary dyskinesia	KEGG:H00564
Primary ciliary dyskinesia	KEGG:H00564
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881