DNAH2 - dynein axonemal heavy chain 2 Gene

Also Known as DNHD3; DNAHC2; SPGF45

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 146754

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

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence References Source
involved in cilium-dependent cell motility IMP
IMP: Inferred from mutant phenotype
30811583 GOA
involved in inner dynein arm assembly IMP
IMP: Inferred from mutant phenotype
30811583 GOA
Cellular Component GO Annotation Evidence References Source
located in axoneme IDA
IDA: Inferred from direct assay
31178125 GOA
part of inner dynein arm IMP
IMP: Inferred from mutant phenotype
30811583 GOA
located in motile cilium IDA
IDA: Inferred from direct assay
31178125 GOA
located in sperm flagellum IDA
IDA: Inferred from direct assay
31178125 GOA
located in sperm flagellum IMP
IMP: Inferred from mutant phenotype
30811583 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

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
  • 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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03848 DNAH2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

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
Others DNAH2 NCBI