• Gene id: 64446

Gene Summary

• Gene Symbol: DNAI2   Gene   UCSC   Ensembl
• Aliases: CILD9, DIC2
• Gene name: dynein axonemal intermediate chain 2
• Alternate names: dynein intermediate chain 2, axonemal, dynein, axonemal, intermediate polypeptide 2,
• Gene location: 17q25.1 (74274228: 74314883)     Exons: 5     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively splice
• OMIM: 605483

SNPs

rs397515565

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

NC_000017.11   g.74310164G>A
NC_000017.11   g.74310164G>C
NC_000017.11   g.74310164G>T
NC_000017.10   g.72306303G>A
NC_000017.10   g.72306303G>C
NC_000017.10   g.72306303G>T
NG_016865.1   g.40918G>A
NG_016865.1   g.40918G>C
NG_016865.1   g.40918G>T|SEQ=[G/A/C/T]|GENE=

rs137852998

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

NC_000017.11   g.74299780C>G
NC_000017.11   g.74299780C>T
NC_000017.10   g.72295919C>G
NC_000017.10   g.72295919C>T
NG_016865.1   g.30534C>G
NG_016865.1   g.30534C>T
NM_023036.5   c.787C>G
NM_023036.5   c.787C>T
NM_023036.6   c.787C>G
NM_023036.6   c.787C>T
NM_023036.4  

Protein Summary

• Protein general information: Q9GZS0  
  • Name: Dynein intermediate chain 2, axonemal (Axonemal dynein intermediate chain 2)
  • Length: 605  
  • Mass: 68821
  • Tissue specificity: Highly expressed in trachea and testis.
• Sequence:

  MEIVYVYVKKRSEFGKQCNFSDRQAELNIDIMPNPELAEQFVERNPVDTGIQCSISMSEHEANSERFEMETRGVN
  HVEGGWPKDVNPLELEQTIRFRKKVEKDENYVNAIMQLGSIMEHCIKQNNAIDIYEEYFNDEEAMEVMEEDPSAK
  TINVFRDPQEIKRAATHLSWHPDGNRKLAVAYSCLDFQRAPVGMSSDSYIWDLENPNKPELALKPSSPLVTLEFN
  PKDSHVLLGGCYNGQIACWDTRKGSLVAELSTIESSHRDPVYGTIWLQSKTGTECFSASTDGQVMWWDIRKMSEP
  TEVVILDITKKEQLENALGAISLEFESTLPTKFMVGTEQGIVISCNRKAKTSAEKIVCTFPGHHGPIYALQRNPF
  YPKNFLTVGDWTARIWSEDSRESSIMWTKYHMAYLTDAAWSPVRPTVFFTTRMDGTLDIWDFMFEQCDPTLSLKV
  CDEALFCLRVQDNGCLIACGSQLGTTTLLEVSPGLSTLQRNEKNVASSMFERETRREKILEARHREMRLKEKGKA
  EGRDEEQTDEELAVDLEALVSKAEEEFFDIIFAELKKKEADAIKLTPVPQQPSPEEDQVVEEGEEAAGEEGDEEV
  EEDLA

• Structural information:
  • Interpro: IPR015943  IPR001680  IPR017986  IPR036322  
  • Prosite: PS50294
  • STRING: ENSP00000400252
• Other Databases: GeneCards:  DNAI2  Malacards:  DNAI2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0036158	outer dynein arm assembly	IMP	biological process
GO:0005930	axoneme	IDA	cellular component
GO:0036157	outer dynein arm	IMP	cellular component
GO:0007368	determination of left/right symmetry	IMP	biological process
GO:0003341	cilium movement	IMP	biological process
GO:0003341	cilium movement	IMP	biological process
GO:0036126	sperm flagellum	IDA	cellular component
GO:0045504	dynein heavy chain binding	IBA	molecular function
GO:0003341	cilium movement	IBA	biological process
GO:0036157	outer dynein arm	IBA	cellular component
GO:0045503	dynein light chain binding	IBA	molecular function
GO:0007018	microtubule-based movement	IBA	biological process
GO:0036158	outer dynein arm assembly	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030286	dynein complex	IEA	cellular component
GO:0003774	motor activity	IEA	molecular function
GO:0030030	cell projection organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005930	axoneme	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0005930	axoneme	IMP	cellular component
GO:0005858	axonemal dynein complex	IMP	cellular component
GO:0003777	microtubule motor activity	IMP	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0005930	axoneme	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease

Diseases

Associated diseases	References
Primary ciliary dyskinesia	KEGG:H00564
Primary ciliary dyskinesia	KEGG:H00564
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray