1. Gene
  2. DDX20 - DEAD-box helicase 20 Gene

DDX20 - DEAD-box helicase 20 Gene

Homo sapiens

Also known as DP103; GEMIN3

Gene ID: 11218 | Gene type: protein coding

About DDX20

Cytogenetic location: 1p13.2 Genomic coordinates (GRCh38): 1:111,755,901-111,768,000 (from NCBI)

This gene has 21 transcripts (splice variants), 200 orthologues and 38 paralogues. Broad expression in testis (RPKM 58.2), bone marrow (RPKM 6.4) and 17 other tissues.

Summary

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq, Jul 2008]

DDX20 Products(1)

mRNA Protein Name
NM_007204.5 NP_009135.4 probable ATP-dependent RNA helicase DDX20

DDX20 Protein Structure

DEAD

DEAD: DEAD/DEAH box helicase (87 - 248)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (329 - 404)

  • 0
  • 200
  • 400
  • 600
  • 824 a.a.
Protein Preferred Names Protein Names

probable ATP-dependent RNA helicase DDX20

DEAD (Asp-Glu-Ala-Asp) box polypeptide 20

Related Diseases

Diseases Alias
Spinal Muscular Atrophy

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]

Muscular Atrophy

Muscle Wasting

Amyotrophia

Wasting - Muscle

Skeletal Muscle Atrophy

Childhood Spinal Muscular Atrophy

Spinal Muscular Atrophies Of Childhood

Survival Motor Neuron Spinal Muscular Atrophy

Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

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
Rattus norvegicus DDX20 RGD RGD:621744
Macaca mulatta DDX20 VGNC VGNC:99881
Bos taurus DDX20 VGNC VGNC:27958
Canis familiaris DDX20 VGNC VGNC:39848
Felis catus DDX20 VGNC VGNC:61400
Mus musculus DDX20 MGD MGI:1858415