1. Gene
  2. DNAH2 - dynein axonemal heavy chain 2 Gene

DNAH2 - dynein axonemal heavy chain 2 Gene

Homo sapiens

Also known as DNHD3; DNAHC2; SPGF45

Gene ID: 146754 | Gene type: protein coding

About DNAH2

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:7,717,744-7,833,742 (from NCBI)

This gene has 6 transcripts (splice variants), 194 orthologues, 15 paralogues and is associated with 1 phenotype. Biased expression in testis (RPKM 2.3), lung (RPKM 0.5) and 2 other tissues.

Summary

Dyneins are microtubule-associated motor protein complexes composed of several heavy, LIGHT, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy chain (Chapelin et al., 1997 [PubMed 9256245]).[supplied by OMIM, Mar 2008]

DNAH2 Products(2)

mRNA Protein Name
NM_001303270.2 NP_001290199.1 dynein axonemal heavy chain 2 isoform 2
NM_020877.5 NP_065928.2 dynein axonemal heavy chain 2 isoform 1

DNAH2 Protein Structure

DHC_N1

DHC_N1: Dynein heavy chain, N-terminal region 1 (238 - 392)

DHC_N1

DHC_N1: Dynein heavy chain, N-terminal region 1 (413 - 718)

DHC_N2

DHC_N2: Dynein heavy chain, N-terminal region 2 (1218 - 1629)

AAA_6

AAA_6: Hydrolytic ATP binding site of dynein motor region D1 (1765 - 1994)

AAA_5

AAA_5: AAA domain (dynein-related subfamily) (2080 - 2221)

AAA_7

AAA_7: P-loop containing dynein motor region D3 (2380 - 2647)

AAA_8

AAA_8: P-loop containing dynein motor region D4 (2732 - 2993)

MT

MT: Microtubule-binding stalk of dynein motor (3006 - 3338)

AAA_9

AAA_9: ATP-binding dynein motor region D5 (3360 - 3586)

Dynein_heavy

Dynein_heavy: Dynein heavy chain and region D6 of dynein motor (3722 - 4423)

  • 0
  • 700
  • 1400
  • 2100
  • 2800
  • 3500
  • 4200
  • 4427 a.a.
Protein Preferred Names Protein Names

dynein axonemal heavy chain 2

axonemal beta dynein heavy chain 2

Related Diseases

Diseases Alias
Spermatogenic Failure 45

SPGF45

Infertility
Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

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

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
Macaca mulatta DNAH2 VGNC VGNC:71940
Bos taurus DNAH2 VGNC VGNC:28125
Rattus norvegicus DNAH2 RGD RGD:1565087
Felis catus DNAH2 VGNC VGNC:61543
Mus musculus DNAH2 MGD MGI:107731
Canis familiaris DNAH2 VGNC VGNC:57368