1. Gene
  2. DNAH9 - dynein axonemal heavy chain 9 Gene

DNAH9 - dynein axonemal heavy chain 9 Gene

Homo sapiens

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

Gene ID: 1770 | Gene type: protein coding

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

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
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  • 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