DNAI2 - dynein axonemal intermediate chain 2 Gene

Homo sapiens

Also known as DIC2; CILD9

Gene ID: 64446 | Gene type: protein coding

About DNAI2

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:74,274,234-74,314,884 (from NCBI)

This gene has 6 transcripts (splice variants), 98 orthologues, 7 paralogues and is associated with 2 phenotypes. Restricted expression toward testis (RPKM 10.6).

Summary

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 spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]

DNAI2 Products(3)

mRNA	Protein	Name
NM_001172810.3	NP_001166281.1	dynein axonemal intermediate chain 2 isoform 2
NM_001353167.2	NP_001340096.1	dynein axonemal intermediate chain 2 isoform 3
NM_023036.6	NP_075462.3	dynein axonemal intermediate chain 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables microtubule motor activity	IMP IMP: Inferred from mutant phenotype	11153919	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25232951	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within cilium assembly	IMP IMP: Inferred from mutant phenotype	11153919	GOA
acts upstream of or within cilium movement	IMP IMP: Inferred from mutant phenotype	18950741	GOA
acts upstream of or within determination of left/right symmetry	IMP IMP: Inferred from mutant phenotype	18950741	GOA
acts upstream of or within outer dynein arm assembly	IMP IMP: Inferred from mutant phenotype	18950741	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of axonemal dynein complex	IMP IMP: Inferred from mutant phenotype	11153919	GOA
located in axoneme	IDA IDA: Inferred from direct assay	18950741	GOA
located in axoneme	IMP IMP: Inferred from mutant phenotype	11153919	GOA
part of outer dynein arm	IMP IMP: Inferred from mutant phenotype	18950741	GOA
located in sperm flagellum	IDA IDA: Inferred from direct assay	18950741	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DNAI2 Protein Structure

WD40

0
100
200
300
400
500
605 a.a.

Protein Preferred Names

Protein Names

dynein axonemal intermediate chain 2

dynein, axonemal, intermediate polypeptide 2

Related Diseases

Diseases

Alias

Ciliary Dyskinesia, Primary, 9

CILD9	Primary Ciliary Dyskinesia 9
Primary Ciliary Dyskinesia 9 With Or Without Situs Inversus	Ciliary Dyskinesia, Primary, 9, With Or Without Situs Inversus
Ics9	Immotile Cilia Syndrome 9
Dyskinesia, Ciliary, Primary, 9

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome	Kartagener Syndrome
Dextrocardia Bronchiectasis And Sinusitis	Pcd
Ciliary Motility Disorders	Ciliary Motility Disorder
Immotile Ciliary Syndrome	Ciliary Dyskinesia Primary
Ics	Polynesian Bronchiectasis
Dextrocardia-Bronchiectasis-Sinusitis Syndrome	Immotile Cilia Syndrome, Kartagener Type
Primary Ciliary Dyskinesia And Situs Inversus	Primary Ciliary Dyskinesia, Kartagener Type
Siewert Syndrome	Dyskinesia, Ciliary, Primary

Kartagener Syndrome

Kartagener'S Syndrome

Ciliary Dyskinesia, Primary, 10

Primary Ciliary Dyskinesia 10	CILD10
Primary Ciliary Dyskinesia 10 With Or Without Situs Inversus	Ciliary Dyskinesia, Primary, 10, With Or Without Situs Inversus
Ics10	Immotile Cilia Syndrome 10
Dyskinesia, Ciliary, Primary, 10

Situs Inversus

Situs Inversus Viscerum	Laterality Sequence
Complete Transposition	Siv

Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2

SEMDJL2	Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations, Hall Type	Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 2
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations Hall Type	Spondyloepimetaphyseal Dysplasia With Joint Laxity, Hall Type
Semd-Md	Spondyloepimetaphyseal Dysplasia With Joint Laxicity, Hall Type
Spondyloepimetaphyseal Dysplasia With Joint Laxity, 2	Lepto-Semdjl
Spondyloepimetaphyseal Dysplasia With Joint Laxity Hall Type	Spondyloepimetaphyseal Dysplasia With Joint Laxity Leptodactylic Type
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations

Bronchiectasis

Polynesian Bronchiectasis	Kartagener Syndrome
Bronchiectasis Nos

Optic Disc Anomalies With Retinal And/Or Macular Dystrophy

Colobomatous Optic Disc-Macular Atrophy-Chorioretinopathy Syndrome	ODRMD
Optic Disk Anomalies With Retinal And/Or Macular Dystrophy

Acute Retrobulbar Neuritis

Retrobulbar Neuritis

Retrobulbar Optic Neuritis

Ciliary Dyskinesia, Primary, 1

CILD1	Pcd
Primary Ciliary Dyskinesia 1	Kartagener Syndrome
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Immotile Cilia Syndrome
Ics	Polynesian Bronchiectasis
Primary Ciliary Dyskinesia 1 With Or Without Situs Inversus	Ics1
Immotile Cilia Syndrome 1	Primary Ciliary Dyskinesia
KTGS	Dextrocardia-Bronchiectasis-Sinusitis Syndrome
Immotile Cilia Syndrome Kartagener Type	Primary Ciliary Dyskinesia Kartagener Type
Siewert Syndrome	Immotile Cilia
Dyskinesia, Ciliary, Primary, Type 1	Ciliary Motility Disorders

Dextrocardia

Heart Predominantly In Right Hemithorax	Heart In Right Chest
Right-Sided Heart	Congenital Dextrocardia Of Heart
Transposition Of Heart

Visceral Heterotaxy

Situs Ambiguus	Heterotaxia
Heterotaxy Syndrome	Heterotaxy
Lateralization Defect	Situs Ambiguous
Left Isomerism	Htx
Ivemark Syndrome	Right Isomerism
Situs Ambiguus Viscerum	Incomplete Situs Inversus
Partial Situs Inversus	Heterotaxy, Visceral
Asplenia Syndrome	Bilateral Left-Sidedness
Polysplenia Syndrome	Moller Syndrome

Paranasal Sinus Disease

Paranasal Sinus Diseases

Disorder Of Nasal Sinus

Middle Ear Disease

Middle Ear Anomaly

Disorder Of Middle Ear

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03856	DNAI2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	DNAI2	VGNC	VGNC:61548
Canis familiaris	DNAI2	VGNC	VGNC:40021
Macaca mulatta	DNAI2	VGNC	VGNC:71860
Bos taurus	DNAI2	VGNC	VGNC:28130
Mus musculus	DNAI2	MGD	MGI:2685574
Rattus norvegicus	DNAI2	RGD	RGD:1359602

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