DNAH9 - dynein axonemal heavy chain 9 Gene

Also Known as DYH9; HL20; DNEL1; HL-20; CILD40; Dnahc9; DNAH17L

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1770

About DNAH9

Cytogenetic location: 17p12 Genomic coordinates (GRCh38): 17:11,598,470-11,969,748 (from NCBI)

This gene has 15 transcripts (splice variants), 151 orthologues, 15 paralogues and is associated with 5 phenotypes. Biased expression in testis (RPKM 1.3), lung (RPKM 1.0) and 6 other tissues.

Summary

This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

DNAH9 Products (2)

mRNA Protein Name
NM_001372.4 NP_001363.2 dynein axonemal heavy chain 9 isoform 2
NM_004662.2 NP_004653.2 dynein axonemal heavy chain 9 isoform 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
30471718 GOA
Biological Process GO Annotation Evidence References Source
involved in cilium movement IMP
IMP: Inferred from mutant phenotype
30471717 GOA
Cellular Component GO Annotation Evidence References Source
located in 9+2 motile cilium IDA
IDA: Inferred from direct assay
26909801 GOA
located in axoneme IDA
IDA: Inferred from direct assay
11104725 GOA
located in distal portion of axoneme IDA
IDA: Inferred from direct assay
26909801 GOA
located in motile cilium IDA
IDA: Inferred from direct assay
31178125 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

DNAH9 Protein Structure

DHC_N1

DHC_N1: Dynein heavy chain, N-terminal region 1 (210 - 790)

DHC_N2

DHC_N2: Dynein heavy chain, N-terminal region 2 (1290 - 1703)

AAA_6

AAA_6: Hydrolytic ATP binding site of dynein motor region D1 (1832 - 2062)

AAA_5

AAA_5: AAA domain (dynein-related subfamily) (2147 - 2267)

AAA_7

AAA_7: P-loop containing dynein motor region D3 (2439 - 2710)

AAA_8

AAA_8: P-loop containing dynein motor region D4 (2788 - 3055)

MT

MT: Microtubule-binding stalk of dynein motor (3067 - 3410)

AAA_9

AAA_9: ATP-binding dynein motor region D5 (3428 - 3655)

Dynein_heavy

Dynein_heavy: Dynein heavy chain and region D6 of dynein motor (3785 - 4485)

  • 0
  • 700
  • 1400
  • 2100
  • 2800
  • 3500
  • 4200
  • 4486 a.a.
Protein Preferred Names Protein Names

dynein axonemal heavy chain 9

  • DNAH9 variant protein

Related Diseases

Diseases Alias
Ciliary Dyskinesia, Primary, 40
  • CILD40

  • Ciliary Dyskinesia, Primary, 40, With Or Without Situs Inversus

  • Primary Ciliary Dyskinesia 40

  • Primary Ciliary Dyskinesia 40 With Or Without Situs Inversus

Dextrocardia With Situs Inversus
  • Situs Inversus Totalis

  • Complete Situs Inversus

  • Complete Situs Inversus Viscerum

  • Situs Inversus

Hydrops Fetalis, Nonimmune
  • Hydrops Fetalis

  • Non-Immune Hydrops Fetalis

  • NIHF

  • Familial Non-Immune Hydrops Fetalis

  • Hydrops Fetalis Nonimmune

  • Idiopathic Hydrops Fetalis

  • Hb Bart'S Hydrops Fetalis

  • Alpha-Thalassemia Hydrops Fetalis

  • Alpha-Thalassemia Major

  • Hemoglobin Bart'S Hydrops Fetalis

  • Homozygous Alpha0-Thalassemia

  • Fetal Anasarca

  • Fetal Hydrops

  • Generalized Fetal Edema

  • Hf

  • Non-Immune Hf

  • Non-Immune Fetal Edema

  • Non-Immune Fetal Hydrops

  • Hydrops Fetalis, Non-Immune

  • Hemoglobin Bart'S Hydrops Syndrome

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

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

Hydrocephalus
  • Hydrocephalus, Nonsyndromic, Autosomal Recessive

  • Hydrocephalus, X-Linked

  • Hydrocephalus Adverse Event

  • Hydrocephaly Nos

Situs Inversus
  • Situs Inversus Viscerum

  • Laterality Sequence

  • Complete Transposition

  • Siv

Osteogenesis Imperfecta, Type Xiii
  • Osteogenesis Imperfecta Type 13

  • OI13

  • Osteogenesis Imperfecta Type Xiii

  • Oi, Type Xiii

  • Osteogenesis Imperfecta 13

  • Oi Type Xiii

  • Oi-Xiii

Osteogenesis Imperfecta, Type Xi
  • Osteogenesis Imperfecta Type 11

  • OI11

  • Osteogenesis Imperfecta Type Xi

  • Oi, Type Xi

  • Osteogenesis Imperfecta 11

  • Oi Type Xi

  • Oi-Xi

Kartagener Syndrome
  • Kartagener'S Syndrome

Ciliary Dyskinesia, Primary, 36, X-Linked
  • CILD36

  • Ciliary Dyskinesia, Primary, 36, With Or Without Situs Inversus

  • Primary Ciliary Dyskinesia 36

  • X-Linked Primary Ciliary Dyskinesia 36

Ciliary Dyskinesia, Primary, 25
  • Primary Ciliary Dyskinesia 25

  • CILD25

  • Primary Ciliary Dyskinesia 25 With Or Without Situs Inversus

  • Ciliary Dyskinesia, Primary, 25, With Or Without Situs Inversus

  • Dyskinesia, Ciliary, Primary, Type 25

Ciliary Dyskinesia, Primary, 2
  • Primary Ciliary Dyskinesia 2

  • CILD2

  • Primary Ciliary Dyskinesia 2 With Or Without Situs Inversus

  • Ciliary Dyskinesia, Primary, 2, With Or Without Situs Inversus

  • Ics2

  • Immotile Cilia Syndrome 2

  • Dyskinesia, Ciliary, Primary, 2

Osteogenesis Imperfecta, Type Xii
  • Osteogenesis Imperfecta Type 12

  • OI12

  • Osteogenesis Imperfecta Type Xii

  • Oi, Type Xii

  • Osteogenesis Imperfecta 12

  • Oi Type Xii

  • Oi-Xii

  • Osteogenesis Imperfecta Sillence Type Iii

Right Atrial Isomerism
  • Ivemark Syndrome

  • Asplenia With Cardiovascular Anomalies

  • RAI

  • Asplenia Syndrome

  • Asplenia

  • Right Isomerism

  • Splenic Agenesis Syndrome

  • Bilateral Right-Sidedness Sequence

  • Right Sided Atrial Isomerism

  • Isomerism Of Right Atrial Appendage

  • Heterotaxy, Visceroatrial, Autosomal Recessive

  • Polyasplenia

  • Vah, Autosomal Recessive

  • Atrial Isomerism, Right

  • Congenital Absence Of Spleen

  • Bilateral Right-Sidedness

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

Orthologs Information

Species Symbol Source ID
Canis familiaris DNAH9 VGNC VGNC:40019
Macaca mulatta DNAH9 VGNC VGNC:99143
Mus musculus DNAH9 MGD MGI:1289279
Bos taurus DNAH9 VGNC VGNC:28128
Rattus norvegicus DNAH9 RGD RGD:621799
Others DNAH9 NCBI