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

ENSG00000090520 ∙ NCBI:51726 ∙ OMIM:611341 ∙ HGNC:14889 ∙ Uniprot:Q9UBS4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Polycystic kidney disease 6 with or without polycystic liver disease	AD	Renal	Awareness may allow early identification of sequelae of renal disease in order to allow medical management	Gastrointestinal; Renal	29706351
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	8	1	10
missense		2	31	2	1	36
nonsense	5	1	1			7
start loss						0
frameshift		3				3
inframe indel						0
splice donor/acceptor (+/-2bp)		1				1
splice region			3	2	3	8
non coding			2	27	27	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)
3-186570776-A-G			Benign (May 11, 2021)
3-186570892-G-A		DNAJB11-related disorder	Likely benign (Jun 04, 2019)
3-186570920-C-T		Inborn genetic diseases	Uncertain significance (Jul 06, 2021)
3-186570924-T-A			Uncertain significance (Sep 22, 2021)
3-186570936-G-A			Likely benign (Aug 27, 2022)
3-186570939-A-G			Likely benign (Jan 03, 2023)
3-186570948-C-T		DNAJB11-related disorder	Likely benign (Jul 16, 2022)
3-186570957-G-A			Uncertain significance (Sep 25, 2022)
3-186571021-G-A			Benign (May 11, 2021)
3-186571884-T-G			Benign (May 11, 2021)
3-186572080-C-T			Likely benign (Sep 14, 2023)
3-186572088-T-G		DNAJB11-related disorder	Likely benign (Jun 25, 2019)
3-186572096-C-T		Renal cyst • Polycystic kidney disease	Pathogenic (Aug 30, 2022)
3-186572124-C-T		Inborn genetic diseases	Uncertain significance (May 23, 2023)
3-186572126-C-T			Pathogenic (Apr 21, 2022)
3-186572140-A-G		Inborn genetic diseases	Uncertain significance (Nov 01, 2022)
3-186572156-G-T			Uncertain significance (Nov 20, 2023)
3-186572177-C-T		Polycystic kidney disease 6 with or without polycystic liver disease	Pathogenic (Mar 31, 2022)
3-186572187-C-G		Polycystic kidney disease 6 with or without polycystic liver disease	Likely pathogenic (Oct 15, 2018)
3-186572189-G-A		Polycystic kidney disease 6 with or without polycystic liver disease	Uncertain significance (Aug 16, 2024)
3-186572192-C-CTT		Polycystic kidney disease 6 with or without polycystic liver disease	Pathogenic (Jul 27, 2018)
3-186572212-A-C			Uncertain significance (Mar 03, 2023)
3-186572244-C-T			Uncertain significance (Nov 10, 2023)
3-186572356-TTTA-T			Benign (May 11, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJB11	protein_coding	protein_coding	ENST00000439351	10	29870

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.226	0.774	125740	0	8	125748	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.77	126	196	0.644	0.0000105	2332
Missense in Polyphen		33	70.333	0.46919		891
Synonymous	0.382	68	72.1	0.943	0.00000380	669
Loss of Function	3.15	5	20.3	0.246	0.00000111	245

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000328	0.0000328
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000372	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000432	0.0000327
Other	0.000163	0.000163

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
• gene_indispensability_pred: N
• gene_indispensability_score: 0.403

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Dnajb11

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