1. Gene
  2. DDX6 - DEAD-box helicase 6 Gene

DDX6 - DEAD-box helicase 6 Gene

Homo sapiens

Also known as P54; RCK; HLR2; IDDILF; Rck/p54

Gene ID: 1656 | Gene type: protein coding

About DDX6

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:118,747,763-118,791,744 (from NCBI)

This gene has 7 transcripts (splice variants), 207 orthologues, 38 paralogues and is associated with 58 phenotypes. Ubiquitous expression in brain (RPKM 27.6), lymph node (RPKM 26.5) and 25 other tissues.

Summary

This gene encodes a member of the DEAD box protein family. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2012]

DDX6 Products(2)

mRNA Protein Name
NM_001257191.3 NP_001244120.1 probable ATP-dependent RNA helicase DDX6
NM_004397.6 NP_004388.2 probable ATP-dependent RNA helicase DDX6

DDX6 Protein Structure

DEAD

DEAD: DEAD/DEAH box helicase (121 - 286)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (353 - 429)

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  • 483 a.a.
Protein Preferred Names Protein Names

probable ATP-dependent RNA helicase DDX6

ATP-dependent RNA helicase p54

Related Diseases

Diseases Alias
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies

IDDILF

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Telecanthus
Childhood Liposarcoma

Pediatric Liposarcoma

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 DDX6 MGD MGI:104976
Bos taurus DDX6 VGNC VGNC:27981
Canis familiaris DDX6 VGNC VGNC:39869
Felis catus DDX6 VGNC VGNC:61420
Macaca mulatta DDX6 VGNC VGNC:71764
Rattus norvegicus DDX6 RGD RGD:1564560