DNAJB11

DnaJ heat shock protein family (Hsp40) member B11, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 3:186567403-186585800

Links

ENSG00000090520NCBI:51726OMIM:611341HGNC:14889Uniprot:Q9UBS4AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • polycystic kidney disease 6 with or without polycystic liver disease (Strong), mode of inheritance: AD
  • polycystic kidney disease 6 with or without polycystic liver disease (Moderate), mode of inheritance: AD
  • autosomal dominant polycystic kidney disease (Supportive), mode of inheritance: AD
  • polycystic kidney disease 6 with or without polycystic liver disease (Strong), mode of inheritance: AD
  • ciliopathy (Limited), mode of inheritance: AR
  • autosomal dominant polycystic kidney disease (Definitive), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Polycystic kidney disease 6 with or without polycystic liver diseaseADRenalAwareness may allow early identification of sequelae of renal disease in order to allow medical managementGastrointestinal; Renal29706351
Renal transplant has been described

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DNAJB11 gene.

  • Polycystic kidney disease 6 with or without polycystic liver disease (2 variants)
  • not provided (2 variants)
  • Renal cyst (1 variants)
  • Inborn genetic diseases (1 variants)
  • Polycystic kidney disease (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJB11 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
1
clinvar
8
clinvar
1
clinvar
10
missense
2
clinvar
31
clinvar
2
clinvar
1
clinvar
36
nonsense
5
clinvar
1
clinvar
1
clinvar
7
start loss
0
frameshift
3
clinvar
3
inframe indel
0
splice donor/acceptor (+/-2bp)
1
clinvar
1
splice region
3
2
3
8
non coding
2
clinvar
27
clinvar
27
clinvar
56
Total 5 7 35 37 29

Highest pathogenic variant AF is 0.00000657

Variants in DNAJB11

This is a list of pathogenic ClinVar variants found in the DNAJB11 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
3-186570629-C-T Benign (May 18, 2021)1227060
3-186570776-A-G Benign (May 11, 2021)1294633
3-186570892-G-A DNAJB11-related disorder Likely benign (Jun 04, 2019)3041513
3-186570920-C-T Inborn genetic diseases Uncertain significance (Jul 06, 2021)2212422
3-186570924-T-A Uncertain significance (Sep 22, 2021)1477431
3-186570936-G-A Likely benign (Aug 27, 2022)2420612
3-186570939-A-G Likely benign (Jan 03, 2023)1431018
3-186570948-C-T DNAJB11-related disorder Likely benign (Jul 16, 2022)3055021
3-186570957-G-A Uncertain significance (Sep 25, 2022)2419130
3-186571021-G-A Benign (May 11, 2021)1283656
3-186571884-T-G Benign (May 11, 2021)1275544
3-186572080-C-T Likely benign (Sep 14, 2023)2760738
3-186572088-T-G DNAJB11-related disorder Likely benign (Jun 25, 2019)3034430
3-186572096-C-T Renal cyst • Polycystic kidney disease Pathogenic (Aug 30, 2022)1172653
3-186572124-C-T Inborn genetic diseases Uncertain significance (May 23, 2023)2550031
3-186572126-C-T Pathogenic (Apr 21, 2022)2053433
3-186572140-A-G Inborn genetic diseases Uncertain significance (Nov 01, 2022)2368529
3-186572156-G-T Uncertain significance (Nov 20, 2023)1475561
3-186572177-C-T Polycystic kidney disease 6 with or without polycystic liver disease Pathogenic (Mar 31, 2022)1805387
3-186572187-C-G Polycystic kidney disease 6 with or without polycystic liver disease Likely pathogenic (Oct 15, 2018)549847
3-186572189-G-A Polycystic kidney disease 6 with or without polycystic liver disease Uncertain significance (Aug 16, 2024)3338402
3-186572192-C-CTT Polycystic kidney disease 6 with or without polycystic liver disease Pathogenic (Jul 27, 2018)549848
3-186572212-A-C Uncertain significance (Mar 03, 2023)2001554
3-186572244-C-T Uncertain significance (Nov 10, 2023)2693302
3-186572356-TTTA-T Benign (May 11, 2021)1253587

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DNAJB11protein_codingprotein_codingENST00000439351 1029870
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.2260.774125740081257480.0000318
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.771261960.6440.00001052332
Missense in Polyphen3370.3330.46919891
Synonymous0.3826872.10.9430.00000380669
Loss of Function3.15520.30.2460.00000111245

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00003280.0000328
Ashkenazi Jewish0.00009920.0000992
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00003720.0000352
Middle Eastern0.000.00
South Asian0.00004320.0000327
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Serves as a co-chaperone for HSPA5. Binds directly to both unfolded proteins that are substrates for ERAD and nascent unfolded peptide chains, but dissociates from the HSPA5-unfolded protein complex before folding is completed. May help recruiting HSPA5 and other chaperones to the substrate. Stimulates HSPA5 ATPase activity. {ECO:0000269|PubMed:10827079, ECO:0000269|PubMed:15525676}.;
Pathway
Protein processing in endoplasmic reticulum - Homo sapiens (human);Ibuprofen Action Pathway;Phenytoin (Antiarrhythmic) Action Pathway;Ibuprofen Metabolism Pathway;Morphine Metabolism Pathway;Irinotecan Action Pathway;Morphine Action Pathway;Etoposide Action Pathway;Sorafenib Metabolism Pathway;Acetaminophen Metabolism Pathway;Vitamin A Deficiency;Irinotecan Metabolism Pathway;Etoposide Metabolism Pathway;Retinol Metabolism;XBP1(S) activates chaperone genes;Photodynamic therapy-induced unfolded protein response (Consensus)

Intolerance Scores

loftool
0.478
rvis_EVS
-0.05
rvis_percentile_EVS
49.76

Haploinsufficiency Scores

pHI
0.382
hipred
Y
hipred_score
0.825
ghis
0.539

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.403

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Dnajb11
Phenotype

Gene ontology

Biological process
protein folding;positive regulation of ATPase activity;IRE1-mediated unfolded protein response;protein maturation
Cellular component
endoplasmic reticulum;endoplasmic reticulum lumen;membrane
Molecular function
protein binding;unfolded protein binding