The DOCK8 gene homepage

General information
Gene symbol DOCK8
Gene name dedicator of cytokinesis 8
Chromosome 9
Chromosomal band p24.3
Imprinted Unknown
Genomic reference LRG_196
Transcript reference NM_001190458.1, NM_001193536.1, NM_203447.3, XM_005251605.1
Associated with diseases ID, MRD-2, Hyper-IgE recurrent infection syndrome, autosomal recessive
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 665
Unique public DNA variants reported 63
Individuals with public variants 35
Hidden variants 357
Date created October 29, 2013
Date last updated September 28, 2016
Version DOCK8:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:19191
Entrez Gene 81704
PubMed articles DOCK8
OMIM - Gene 611432
OMIM - Diseases MRD-2 (mental retardation, autosomal dominant, type 2 (MRD-2))
Hyper-IgE recurrent infection syndrome, autosomal recessive
HGMD DOCK8
GeneCards DOCK8
GeneTests DOCK8


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00002341 9 transcript variant 1 NM_203447.3 NP_982272.2 659
00002340 9 transcript variant 3 NM_001193536.1 NP_001180465.1 575
00002342 9 transcript variant 2 NM_001190458.1 NP_001177387.1 575
00047637 9 transcript variant X1 XM_005251605.1 XP_005251662.1 -


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