Polycystic kidney disease 6 with or without polycystic liver disease
diseaseOn this page
Also known as DNAJB11 polycystic kidney diseasePKD6polycystic kidney disease caused by mutation in DNAJB11
Summary
Polycystic kidney disease 6 with or without polycystic liver disease (MONDO:0054842) is a disease caused by DNAJB11 (GenCC Strong), with 1 cohort gene.
At a glance
- Causal gene: DNAJB11 (GenCC Strong)
- Cohort genes: 1
- ClinVar variants: 30
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | polycystic kidney disease 6 with or without polycystic liver disease |
| Mondo ID | MONDO:0054842 |
| OMIM | 618061 |
| DOID | DOID:0060951 |
| UMLS | C4748044 |
| MedGen | 1648469 |
| GARD | 0025984 |
| Is cancer (heuristic) | no |
Also known as: DNAJB11 polycystic kidney disease · PKD6 · polycystic kidney disease 6 with or without polycystic liver disease · polycystic kidney disease caused by mutation in DNAJB11
Data availability: 30 ClinVar variants · 4 GenCC gene-disease records.
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal dominant disease › autosomal dominant polycystic kidney disease › polycystic kidney disease 6 with or without polycystic liver disease
Related subtypes (6): polycystic kidney disease 1, polycystic kidney disease 3 with or without polycystic liver disease, polycystic kidney disease 2, polycystic kidney disease 7, ALG9-associated autosomal dominant polycystic kidney disease, polycystic kidney disease 8
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
30 retrieved; paginated sample, class counts are floors:
11 uncertain significance, 9 pathogenic, 8 likely pathogenic, 1 benign, 1 conflicting classifications of pathogenicity
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 1172653 | NM_016306.6(DNAJB11):c.70C>T (p.Arg24Ter) | DNAJB11 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 1805387 | NM_016306.6(DNAJB11):c.151C>T (p.Gln51Ter) | DNAJB11 | Pathogenic | criteria provided, single submitter |
| 2281222 | NM_016306.6(DNAJB11):c.724C>T (p.Arg242Ter) | DNAJB11 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 3342272 | NM_016306.6(DNAJB11):c.258C>G (p.Tyr86Ter) | DNAJB11 | Pathogenic | criteria provided, single submitter |
| 3377507 | NM_016306.6(DNAJB11):c.537_543del (p.Gln179fs) | DNAJB11 | Pathogenic | criteria provided, single submitter |
| 3899993 | NM_016306.6(DNAJB11):c.532del (p.Thr178fs) | DNAJB11 | Pathogenic | criteria provided, single submitter |
| 549848 | NM_016306.6(DNAJB11):c.166_167insTT (p.Arg56fs) | DNAJB11 | Pathogenic | no assertion criteria provided |
| 549849 | NM_016306.6(DNAJB11):c.479del (p.Ala160fs) | DNAJB11 | Pathogenic | criteria provided, single submitter |
| 549851 | NM_016306.6(DNAJB11):c.616C>T (p.Arg206Ter) | DNAJB11 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 3236224 | NM_016306.6(DNAJB11):c.635_636del (p.Ile212fs) | DNAJB11 | Likely pathogenic | criteria provided, single submitter |
| 3237351 | NM_016306.6(DNAJB11):c.544_550del (p.Pro182fs) | DNAJB11 | Likely pathogenic | criteria provided, single submitter |
| 3342267 | NM_016306.6(DNAJB11):c.763_767del (p.Arg254_Gly255insTer) | DNAJB11 | Likely pathogenic | criteria provided, single submitter |
| 3366872 | NM_016306.6(DNAJB11):c.324-1G>T | DNAJB11 | Likely pathogenic | no assertion criteria provided |
| 3907695 | NM_016306.6(DNAJB11):c.926_927del (p.Asn308_Phe309insTer) | DNAJB11 | Likely pathogenic | criteria provided, single submitter |
| 4532219 | NM_016306.6(DNAJB11):c.537del (p.Gln179fs) | DNAJB11 | Likely pathogenic | criteria provided, single submitter |
| 549847 | NM_016306.6(DNAJB11):c.161C>G (p.Pro54Arg) | DNAJB11 | Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 549850 | NM_016306.6(DNAJB11):c.230T>C (p.Leu77Pro) | DNAJB11 | Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 4243038 | NM_016306.6(DNAJB11):c.500G>A (p.Arg167Gln) | DNAJB11 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1098713 | NM_016306.6(DNAJB11):c.456+3A>G | DNAJB11 | Uncertain significance | no assertion criteria provided |
| 2440926 | NM_016306.6(DNAJB11):c.452T>G (p.Val151Gly) | DNAJB11 | Uncertain significance | criteria provided, single submitter |
| 2688959 | NM_016306.6(DNAJB11):c.600-7A>G | DNAJB11 | Uncertain significance | criteria provided, single submitter |
| 3068379 | NM_016306.6(DNAJB11):c.226-17C>G | DNAJB11 | Uncertain significance | criteria provided, single submitter |
| 3338402 | NM_016306.6(DNAJB11):c.163G>A (p.Asp55Asn) | DNAJB11 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 3900722 | NM_016306.6(DNAJB11):c.776A>G (p.Tyr259Cys) | DNAJB11 | Uncertain significance | criteria provided, single submitter |
| 4077100 | NM_016306.6(DNAJB11):c.1012+1G>T | DNAJB11 | Uncertain significance | criteria provided, single submitter |
| 4531887 | NM_016306.6(DNAJB11):c.413T>C (p.Leu138Pro) | DNAJB11 | Uncertain significance | criteria provided, single submitter |
| 4540416 | NM_016306.6(DNAJB11):c.323+5G>A | DNAJB11 | Uncertain significance | criteria provided, single submitter |
| 987515 | NM_016306.6(DNAJB11):c.800T>C (p.Val267Ala) | DNAJB11 | Uncertain significance | no assertion criteria provided |
| 992421 | NM_016306.6(DNAJB11):c.743A>T (p.His248Leu) | DNAJB11 | Uncertain significance | no assertion criteria provided |
| 1250834 | NM_016306.6(DNAJB11):c.324-27dup | DNAJB11 | Benign | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 7 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| DNAJB11 | Strong | Autosomal dominant | polycystic kidney disease 6 with or without polycystic liver disease | 7 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| DNAJB11 | Orphanet:730 | Autosomal dominant polycystic kidney disease |
Cohort genes → proteins
1 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 1 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| DNAJB11 | HGNC:14889 | ENSG00000090520 | Q9UBS4 | DnaJ homolog subfamily B member 11 | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| DNAJB11 | DnaJ homolog subfamily B member 11 | As a co-chaperone for HSPA5 it is required for proper folding, trafficking or degradation of proteins. |
Protein-family classification
Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Other/Unknown | 1 | 1.8× | 0.558 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| DNAJB11 | Other/Unknown | no | DnaJ_domain, DnaJ_C, HSP40/DnaJ_pept-bd |
Expression context
Cohort genes with no expression data: 0.
1 cohort gene are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 1 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| body of pancreas | 1 |
| bone marrow cell | 1 |
| vermiform appendix | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| DNAJB11 | 141 | ubiquitous | marker | vermiform appendix, body of pancreas, bone marrow cell |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| DNAJB11 | 3,387 |
Structural data
PDB: 0 · AlphaFold-only: 1 · No structure: 0
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| DNAJB11 | Q9UBS4 | 84.34 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 2. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| XBP1(S) activates chaperone genes | 1 | 215.5× | 0.005 | DNAJB11 |
| Maturation of DENV proteins | 1 | 211.5× | 0.005 | DNAJB11 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| positive regulation of ATP-dependent activity | 1 | 1404.3× | 0.002 | DNAJB11 |
| mRNA modification | 1 | 1296.3× | 0.002 | DNAJB11 |
| negative regulation of neurogenesis | 1 | 624.1× | 0.003 | DNAJB11 |
| protein maturation | 1 | 163.6× | 0.008 | DNAJB11 |
| protein folding | 1 | 103.4× | 0.010 | DNAJB11 |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1
Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| DNAJB11 | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| DNAJB11 | 1 | Binding:1 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 1 | DNAJB11 |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| DNAJB11 | 1 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: DNAJB11