DNAI2 - dynein axonemal intermediate chain 2 Gene

Also Known as DIC2; CILD9

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64446

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 References 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 References 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 References 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

WD40: WD domain, G-beta repeat (257 - 293)

  • 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

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 Set / 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
Others DNAI2 NCBI