DNAJB6 |
- 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)