DNAH6 - dynein axonemal heavy chain 6 Gene

Also Known as HL2; HL-2; DNHL1; Dnahc6

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1768

About DNAH6

Cytogenetic location: 2p11.2 Genomic coordinates (GRCh38): 2:84,459,572-84,819,589 (from NCBI)

This gene has 5 transcripts (splice variants), 220 orthologues and 15 paralogues. Biased expression in testis (RPKM 1.8), thyroid (RPKM 0.7) and 11 other tissues.

Summary

This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016]

DNAH6 Products (1)

mRNA Protein Name
NM_001370.2 NP_001361.1 dynein axonemal heavy chain 6

DNAH6 Protein Structure

DHC_N2

DHC_N2: Dynein heavy chain, N-terminal region 2 (878 - 1304)

AAA_6

AAA_6: Hydrolytic ATP binding site of dynein motor region D1 (1434 - 1664)

AAA_5

AAA_5: AAA domain (dynein-related subfamily) (1748 - 1892)

AAA_7

AAA_7: P-loop containing dynein motor region D3 (2057 - 2328)

AAA_8

AAA_8: P-loop containing dynein motor region D4 (2417 - 2678)

MT

MT: Microtubule-binding stalk of dynein motor (2690 - 3019)

AAA_9

AAA_9: ATP-binding dynein motor region D5 (3042 - 3270)

Dynein_heavy

Dynein_heavy: Dynein heavy chain and region D6 of dynein motor (3407 - 4155)

  • 0
  • 700
  • 1400
  • 2100
  • 2800
  • 3500
  • 4158 a.a.
Protein Preferred Names Protein Names

dynein axonemal heavy chain 6

  • axonemal beta dynein heavy chain 6

Related Diseases

Diseases Alias
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

Spermatogenic Failure 9
  • Male Infertility Due To Globozoospermia

  • SPGF9

  • Male Infertility Due To Round-Headed Spermatozoa

  • Globozoospermia, Complete

  • Globozoospermia, Total

  • Globozoospermia

  • Globozoospermia Syndrome

  • Round-Headed Sperm Syndrome

  • Globozoospermia Complete

  • Globozoospermia Total

Spermatogenic Failure 16
  • SPGF16

  • Acephalic Spermatozoa Syndrome

  • Spermatozoa, Acephalic

Male Infertility Due To Acephalic Spermatozoa
  • Acephalic Spermatozoa Syndrome

Spermatogenic Failure
  • Azoospermia

  • Spgf

  • Spermatogenic Failure, Susceptibility To

  • Absent Sperm

  • Aspermatogenesis

  • Infertility Due To Azoospermia

  • Hypospermatogenesis

  • Azoospermatism

Spermatogenic Failure, Y-Linked, 2
  • SPGFY2

  • Spermatogenic Failure, Nonobstructive, Y-Linked

  • Y-Linked Spermatogenic Failure 2

  • Azoospermia, Nonobstructive, Y-Linked

  • Oligozoospermia, Nonobstructive, Y-Linked

  • Oligospermia, Nonobstructive, Y-Linked

  • Spermatogenic Arrest, Y-Linked

  • Nonobstructive Y-Linked Spermatogenic Failure

  • Spermatogenic Failure Y-Linked 2

  • Azoospermia Non-Obstructive Y-Linked

  • Non-Obstructive Azoospermia And Infertility

  • Oligospermia Non-Obstructive Y-Linked

  • Oligozoospermia Non-Obstructive Y-Linked

  • Spermatogenic Arrest Y-Linked

  • Spermatogenic Failure Nonobstructive Y-Linked

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
Mus musculus DNAH6 MGD MGI:107744
Canis familiaris DNAH6 VGNC VGNC:40017
Macaca mulatta DNAH6 VGNC VGNC:106147
Bos taurus DNAH6 VGNC VGNC:102820
Rattus norvegicus DNAH6 RGD RGD:621797
Felis catus DNAH6 VGNC VGNC:61546
Others DNAH6 NCBI