• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DNAJB6 (HGNC:14888) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
DnaJ heat shock protein family (Hsp40) member B6
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
LGMD1D
Alias symbols
MRJ
%HI
47.78(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.85(Read more about gnomAD pLI score)
LOEUF
0.4(Read more about gnomAD LOEUF score)
Cytoband
7q36.3
Genomic Coordinates
GRCh37/hg19: chr7:157129698-157210133 NCBI Ensembl UCSC
GRCh38/hg38: chr7:157337004-157417439 NCBI Ensembl UCSC
MANE Select Transcript
NM_058246.4 ENST00000262177.9 (Read more about MANE Select)
Function
Has a stimulatory effect on the ATPase activity of HSP70 in a dose-dependent and time-dependent manner and hence acts as a co- chaperone of HSP70 (PubMed:10954706, PubMed:28233300). Plays an indispensable role in the organization of KRT8/KRT18 filaments (PubMed:10954706). Acts as an endogenous molecular chaperone for neuronal proteins including huntingtin (PubMed:11896048, PubMed:22366786). Suppresses aggregation and toxicity of polyglutamine- containing, aggregation-prone proteins (PubMed:20159... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-27692
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
10/29/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
While duplications of DNAJB6 have not been described in association with clinical phenotypes, heterozygous point mutations in DNAJB6 cause limb-girdle muscular dystrophy type 1E (LGMD1E) (MIM 603511), an adult-onset degenerative myopathy, by a pathogenic mechanism of toxic gain-of-function [see PMIDs 22334415, 22366786].

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)