Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51726
Gene name	DnaJ heat shock protein family (Hsp40) member B11
Gene symbol	DNAJB11
Synonyms (NCBI Gene)	ABBP-2ABBP2DJ9Dj-9EDJERdj3ERj3ERj3pPKD6PRO1080UNQ537
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

Show/Hide all (3)

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

Show/Hide all (43)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002316	hsa-miR-29b-3p	ImmunoprecipitaionLuciferase reporter assayWestern 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

Show/Hide all (24)

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

MIM	HGNC	e!Ensembl
611341	14889	ENSG00000090520

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

Interactions

View interactions

	KEGG		Reactome
	Protein processing in endoplasmic reticulum		XBP1(S) activates chaperone genes

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Anhydramnios	Likely pathogenic	rs2108484340	RCV001807677
Autosomal dominant polycystic kidney disease	Likely pathogenic	rs2474564821	RCV004527505
Enlarged kidney	Likely pathogenic	rs2108484340	RCV001807677
Multiple renal cysts	Likely pathogenic	rs2108484340	RCV001807677
Polycystic kidney disease	Pathogenic	rs2108473228	RCV004017844
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
Renal cyst	Pathogenic	rs2108473228	RCV001526624

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs61758419	RCV005919555
Adrenocortical carcinoma, hereditary	Benign	rs61758419	RCV005919558
Cervical cancer	Benign	rs61758419	RCV005919559
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs61758419	RCV005919566
Colon adenocarcinoma	Benign	rs61758419	RCV005919554
Colorectal cancer	Benign	rs61758419	RCV005919562
DNAJB11-related disorder	Likely benign; Benign; Uncertain significance	rs779151489, rs77313009, rs748420874, rs1303862732, rs772358902, rs149168314, rs761209634, rs749748629, rs775986965, rs2474579444, rs759619633, rs138789127, rs776025383, rs1715573698	RCV003968778 RCV003913767 RCV003978635 RCV004756463 RCV003410524 RCV003931883 RCV003906815 RCV003897154 RCV003954897 RCV003954916 RCV003914317 RCV003946928 RCV003979135 RCV004731115
Familial cancer of breast	Benign	rs61758419	RCV005919553
Familial pancreatic carcinoma	Benign	rs61758419	RCV005919561
Gastric cancer	Benign; Uncertain significance	rs61758419, rs758228321	RCV005919564 RCV005928345
Lung cancer	Benign	rs61758419	RCV005919565
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	rs773056034	RCV005930926
Malignant tumor of esophagus	Benign	rs61758419	RCV005919556
Nonpapillary renal cell carcinoma	Benign	rs61758419	RCV005919557
Ovarian cancer	Benign	rs61758419	RCV005919560
Sarcoma	Benign	rs61758419	RCV005919563
Uterine carcinosarcoma	Benign	rs77313009	RCV005928221
Uterine corpus endometrial carcinoma	Benign	rs77313009	RCV005928222

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
alpha 1 Antitrypsin Deficiency	Associate	28419579
Arthritis Rheumatoid	Associate	35008858
Cakut	Associate	32631624
Carotid Artery Internal Dissection	Associate	32631624
Chondrocalcinosis 2	Associate	35008858
Diabetes Mellitus	Associate	38275584
Dissection Thoracic Aorta	Associate	32631624
Fibrosis	Associate	29706351, 38275584
Gaucher Disease	Associate	25126989
Hyperuricemia	Associate	38275584
Kidney Diseases	Associate	32631624
Kidney Diseases Cystic	Associate	29706351, 32631624, 36573973, 38275584
Kidney Failure Chronic	Associate	29706351, 32631624
Liver Diseases	Associate	28419579
Liver Failure	Associate	29706351
Nephrocalcinosis	Associate	32631624
Osteoarthritis	Associate	35008858
Polycystic Kidney Autosomal Dominant	Associate	29706351, 32631624, 38275584
Polycystic Kidney Diseases	Associate	29706351, 33437033
Thyroid Neoplasms	Associate	34727750

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