DNAJB11 (DnaJ heat shock protein family (Hsp40) member B11)

Gene

• Entrez ID: 51726
• Gene name: DnaJ heat shock protein family (Hsp40) member B11
• Gene symbol: DNAJB11
• Synonyms (NCBI Gene): ABBP-2, ABBP2, DJ9, Dj-9, EDJ, ERdj3, ERj3, ERj3p, PKD6, PRO1080, UNQ537
• Chromosome: 3
• Chromosome location: 3q27.3
• Summary: This gene encodes a soluble glycoprotein of the endoplasmic reticulum (ER) lumen that functions as a co-chaperone of binding immunoglobulin protein, a 70 kilodalton heat shock protein chaperone required for the proper folding and assembly of proteins in t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs941713150	C>A,T	Pathogenic	Synonymous variant, non coding transcript variant, stop gained, coding sequence variant
rs1351138670	C>-	Pathogenic	Intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1553850185	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002316	hsa-miR-29b-3p	Immunoprecipitaion, Luciferase reporter assay, Western blot	17637574
MIRT047230	hsa-miR-181b-5p	CLASH	23622248
MIRT939828	hsa-miR-29a	CLIP-seq
MIRT939829	hsa-miR-29b	CLIP-seq
MIRT939830	hsa-miR-29c	CLIP-seq
MIRT939831	hsa-miR-3065-3p	CLIP-seq
MIRT939832	hsa-miR-3200-3p	CLIP-seq
MIRT939833	hsa-miR-3613-3p	CLIP-seq
MIRT939834	hsa-miR-3937	CLIP-seq
MIRT939835	hsa-miR-510	CLIP-seq
MIRT939836	hsa-miR-548ac	CLIP-seq
MIRT939837	hsa-miR-548d-3p	CLIP-seq
MIRT939838	hsa-miR-548z	CLIP-seq
MIRT1977973	hsa-miR-3690	CLIP-seq
MIRT1977974	hsa-miR-4254	CLIP-seq
MIRT1977975	hsa-miR-4268	CLIP-seq
MIRT1977976	hsa-miR-4448	CLIP-seq
MIRT939828	hsa-miR-29a	CLIP-seq
MIRT939829	hsa-miR-29b	CLIP-seq
MIRT939830	hsa-miR-29c	CLIP-seq
MIRT939831	hsa-miR-3065-3p	CLIP-seq
MIRT2436866	hsa-miR-605	CLIP-seq
MIRT2517209	hsa-miR-138	CLIP-seq
MIRT2517210	hsa-miR-202	CLIP-seq
MIRT939828	hsa-miR-29a	CLIP-seq
MIRT939829	hsa-miR-29b	CLIP-seq
MIRT939830	hsa-miR-29c	CLIP-seq
MIRT939831	hsa-miR-3065-3p	CLIP-seq
MIRT939834	hsa-miR-3937	CLIP-seq
MIRT2517211	hsa-miR-4678	CLIP-seq
MIRT2517212	hsa-miR-4738-3p	CLIP-seq
MIRT939835	hsa-miR-510	CLIP-seq
MIRT2436866	hsa-miR-605	CLIP-seq
MIRT2517210	hsa-miR-202	CLIP-seq
MIRT939828	hsa-miR-29a	CLIP-seq
MIRT939829	hsa-miR-29b	CLIP-seq
MIRT939830	hsa-miR-29c	CLIP-seq
MIRT939831	hsa-miR-3065-3p	CLIP-seq
MIRT939834	hsa-miR-3937	CLIP-seq
MIRT2517211	hsa-miR-4678	CLIP-seq
MIRT2517212	hsa-miR-4738-3p	CLIP-seq
MIRT939835	hsa-miR-510	CLIP-seq
MIRT2436866	hsa-miR-605	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	18923428, 20335166, 21900206, 24189400, 28514442, 32296183, 33961781
GO:0005615	Component	Extracellular space	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	20335166
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	16130169
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006457	Process	Protein folding	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016556	Process	MRNA modification	IEA
GO:0032781	Process	Positive regulation of ATP-dependent activity	IDA	20335166
GO:0034663	Component	Endoplasmic reticulum chaperone complex	IEA
GO:0050768	Process	Negative regulation of neurogenesis	IEA
GO:0051082	Function	Unfolded protein binding	IBA
GO:0051082	Function	Unfolded protein binding	IEA
GO:0051604	Process	Protein maturation	IBA
GO:0051604	Process	Protein maturation	IMP	29706351
GO:0051787	Function	Misfolded protein binding	IBA
GO:0051787	Function	Misfolded protein binding	IDA	28597544
GO:0101031	Component	Protein folding chaperone complex	IPI	28597544

Other IDs

• MIM: 611341
• HGNC: 14889
• e!Ensembl: ENSG00000090520

Protein

• UniProt ID: Q9UBS4
• Protein name: DnaJ homolog subfamily B member 11 (APOBEC1-binding protein 2) (ABBP-2) (DnaJ protein homolog 9) (ER-associated DNAJ) (ER-associated Hsp40 co-chaperone) (Endoplasmic reticulum DNA J domain-containing protein 3) (ER-resident protein ERdj3) (ERdj3) (ERj3p)
• Protein function: As a co-chaperone for HSPA5 it is required for proper folding, trafficking or degradation of proteins (PubMed:10827079, PubMed:15525676, PubMed:29706351). Binds directly to both unfolded proteins that are substrates for ERAD and nascent unfolded
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00226	DnaJ	25 → 87	DnaJ domain	Domain
  PF01556	DnaJ_C	134 → 327	DnaJ C terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10827079, ECO:0000269|PubMed:11584023, ECO:0000269|PubMed:15525676}.
• Sequence:

  MAPQNLSTFCLLLLYLIGAVIAGRDFYKILGVPRSASIKDIKKAYRKLALQLHPDRNPDD
  PQAQEKFQDLGAAYEVLSDSEKRKQYDTYGEEGLKDGHQSSHGDIFSHFFGDFGFMFGGT
  PRQQDRNIPRGSDIIVDLEVTLEEVYAGNFVEVVRNKPVARQAPGKRKCNCRQEMRTTQL
  GPGRFQMTQEVVCDECPNVKLVNEERTLEVEIEPGVRDGMEYPFIGEGEPHVDGEPGDLR
  FRIKVVKHPIFERRGDDLYTNVTISLVESLVGFEMDITHLDGHKVHISRDKITRPGAKLW
  KKGEGLPNFDNNNIKGSLIITFDVDFPKEQLTEEAREGIKQLLKQGSVQKVYNGLQGY

• Sequence length: 358

Pathways

KEGG:

Protein processing in endoplasmic reticulum

Reactome:

XBP1(S) activates chaperone genes

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Anhydramnios	Likely pathogenic	rs2108484340	RCV001807677	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant polycystic kidney disease	Likely pathogenic	rs2474564821	RCV004527505	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Enlarged kidney	Likely pathogenic	rs2108484340	RCV001807677	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple renal cysts	Likely pathogenic	rs2108484340	RCV001807677	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic kidney disease	Pathogenic	rs2108473228	RCV004017844	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic kidney disease 6 with or without polycystic liver disease	Pathogenic; Likely pathogenic	rs2474556395, rs765764090, rs2474578114, rs2474576556, rs1553849919, rs1553849920, rs1351138670, rs1553850185, rs941713150	RCV002471805 RCV006249858 RCV004555480 RCV004560345 RCV000664417 RCV000664418 RCV000664419 RCV000664420 RCV000664421	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal cyst	Pathogenic	rs2108473228	RCV001526624	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHY	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DNAJB11-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	28419579		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	35008858	Associate	★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	32631624	Associate	★☆☆☆☆ Found in Text Mining only
Chondrocalcinosis 2	Chondrocalcinosis	Pubtator	35008858	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	29706351		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	GENOMICS_ENGLAND_DG	29706351		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	29992839		★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	GENOMICS_ENGLAND_DG	29706351		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	38275584	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	25126989		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	25126989	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	38275584	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	32631624	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases Cystic	Kidney disease	Pubtator	29706351, 32631624, 36573973, 38275584	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	29706351, 32631624	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	29706351		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	GENOMICS_ENGLAND_DG	29706351		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29992839		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	29992839		★☆☆☆☆ Found in Text Mining only
Liver cyst	Liver Cyst	BEFREE	29706351		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	28419579	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	29706351	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29992839		★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	BEFREE	29706351		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	35008858	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	29706351, 32631624, 38275584	Associate	★☆☆☆☆ Found in Text Mining only
POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE	Polycystic Kidney Disease With Or Without Polycystic Liver Disease	CLINVAR_DG	29706351		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE	Polycystic Kidney Disease With Or Without Polycystic Liver Disease	UNIPROT_DG	29706351		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE	Polycystic Kidney Disease With Or Without Polycystic Liver Disease	GENOMICS_ENGLAND_DG	29706351, 29777155		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polycystic Kidney Diseases	Polycystic kidney disease	GENOMICS_ENGLAND_DG	29706351		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney Diseases	Polycystic kidney disease	Pubtator	29706351, 33437033	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	29706351		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Neoplasms	Thyroid cancer	Pubtator	34727750	Associate	★☆☆☆☆ Found in Text Mining only