Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	64446
Gene name Gene Name - the full gene name approved by the HGNC.	Dynein axonemal intermediate chain 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DNAI2
Synonyms (NCBI Gene) Gene synonyms aliases	CILD9, DIC2, oda6
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q25.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852998	C>G,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs139935771	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs140326154	G>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, non coding transcript variant, missense variant
rs200708870	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs397515358	T>G	Pathogenic	Intron variant
rs397515565	G>A,C,T	Pathogenic	Splice donor variant
rs752924362	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained, missense variant, non coding transcript variant
rs756868374	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs758109864	G>A	Likely-pathogenic	Splice donor variant
rs770946088	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs780116486	C>T	Pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant
rs878855078	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1060502202	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1240172375	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1555614910	->G	Pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant
rs1598278059	G>A	Likely-pathogenic	Splice acceptor variant
rs1598293348	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1598330492	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1598342751	AC>CATT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

Show/Hide all(29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003341	Process	Cilium movement	IBA
GO:0003341	Process	Cilium movement	IMP	18950741, 23261302
GO:0003777	Function	Microtubule motor activity	IMP	11153919
GO:0005515	Function	Protein binding	IPI	25232951, 28176794
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005858	Component	Axonemal dynein complex	IMP	11153919
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IDA	18950741, 23849778
GO:0005930	Component	Axoneme	IEA
GO:0005930	Component	Axoneme	IMP	11153919
GO:0007368	Process	Determination of left/right symmetry	IMP	18950741
GO:0009897	Component	External side of plasma membrane	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030286	Component	Dynein complex	IEA
GO:0036126	Component	Sperm flagellum	IDA	18950741
GO:0036157	Component	Outer dynein arm	IBA
GO:0036157	Component	Outer dynein arm	IMP	18950741
GO:0036158	Process	Outer dynein arm assembly	IBA
GO:0036158	Process	Outer dynein arm assembly	IMP	18950741, 23261302
GO:0042995	Component	Cell projection	IEA
GO:0045503	Function	Dynein light chain binding	IBA
GO:0045504	Function	Dynein heavy chain binding	IBA
GO:0060271	Process	Cilium assembly	IMP	11153919
GO:0097386	Component	Glial cell projection	IEA
GO:0097729	Component	9+2 motile cilium	IEA
GO:0120293	Component	Dynein axonemal particle	IEA
GO:0120293	Component	Dynein axonemal particle	ISS

MIM	HGNC	e!Ensembl
605483	18744	ENSG00000171595

Protein

UniProt ID

Q9GZS0

Protein name

Dynein axonemal intermediate chain 2 (Axonemal dynein intermediate chain 2)

Protein function

Part of the dynein complex of respiratory cilia.

PDB

8J07

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in trachea and testis. Expressed in respiratory ciliated cells (at protein level) (PubMed:33139725). {ECO:0000269|PubMed:33139725}.

Sequence

MEIVYVYVKKRSEFGKQCNFSDRQAELNIDIMPNPELAEQFVERNPVDTGIQCSISMSEH
EANSERFEMETRGVNHVEGGWPKDVNPLELEQTIRFRKKVEKDENYVNAIMQLGSIMEHC
IKQNNAIDIYEEYFNDEEAMEVMEEDPSAKTINVFRDPQEIKRAATHLSWHPDGNRKLAV
AYSCLDFQRAPVGMSSDSYIWDLENPNKPELALKPSSPLVTLEFNPKDSHVLLGGCYNGQ
IACWDTRKGSLVAELSTIESSHRDPVYGTIWLQSKTGTECFSASTDGQVMWWDIRKMSEP
TEVVILDITKKEQLENALGAISLEFESTLPTKFMVGTEQGIVISCNRKAKTSAEKIVCTF
PGHHGPIYALQRNPFYPKNFLTVGDWTARIWSEDSRESSIMWTKYHMAYLTDAAWSPVRP
TVFFTTRMDGTLDIWDFMFEQCDPTLSLKVCDEALFCLRVQDNGCLIACGSQLGTTTLLE
VSPGLSTLQRNEKNVASSMFERETRREKILEARHREMRLKEKGKAEGRDEEQTDEELAVD
LEALVSKAEEEFFDIIFAELKKKEADAIKLTPVPQQPSPEEDQVVEEGEEAAGEEGDEEV
EEDLA

Sequence length

605

Interactions

View interactions

	KEGG
	Motor proteins Amyotrophic lateral sclerosis Huntington disease Pathways of neurodegeneration - multiple diseases

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Ciliary dyskinesia	primary ciliary dyskinesia, Primary ciliary dyskinesia 9	rs1598342751, rs137852998, rs756868374, rs1598278059, rs752924362, rs1598348312, rs897911822, rs1598293348, rs878855078, rs780116486, rs772133192, rs1060502202, rs200708870, rs1240172375, rs2051792816 View all (10 more)	N/A

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arm Injuries	Associate	18950741
Ciliary Motility Disorders	Associate	18950741, 24203976, 25186273, 33167880
Hydrocephalus Normal Pressure	Associate	33167880
Hypoalphalipoproteinemias	Associate	32541515
Nasopharyngeal Carcinoma	Associate	30935420, 32541515

DNAI2 (dynein axonemal intermediate chain 2)