DNAJB9 DnaJ heat shock protein family (Hsp40) member B9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJB9provided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member B9provided by HGNC
Primary source: HGNC:HGNC:6968
See related: Ensembl:ENSG00000128590 MIM:602634; AllianceGenome:HGNC:6968
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MDG1; ERdj4; MDG-1; MST049; MSTP049
Summary: This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. This gene is a member of the type 2 subgroup of DnaJ proteins. The encoded protein is localized to the endoplasmic reticulum. This protein is induced by endoplasmic reticulum stress and plays a role in protecting stressed cells from apoptosis. [provided by RefSeq, Dec 2010]
Expression: Ubiquitous expression in thyroid (RPKM 55.6), adrenal (RPKM 35.9) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 7q31.1; 14q24.2-q24.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (108569874..108574850)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (109894482..109899458)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (108210318..108215294)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression of DNAJB9 and some other genes is more sensitive to SWCNTs in normal human astrocytes than glioblastoma cells.
Title: Expression of DNAJB9 and some other genes is more sensitive to SWCNTs in normal human astrocytes than glioblastoma cells.
DNAJB9 suppresses the metastasis of triple-negative breast cancer by promoting FBXO45-mediated degradation of ZEB1.
Title: DNAJB9 suppresses the metastasis of triple-negative breast cancer by promoting FBXO45-mediated degradation of ZEB1.
DNAJB9-positive monotypic fibrillary glomerulonephritis is not associated with monoclonal gammopathy in the vast majority of patients.
Title: DNAJB9-positive monotypic fibrillary glomerulonephritis is not associated with monoclonal gammopathy in the vast majority of patients.
Clinicopathological characteristics and outcome of patients with fibrillary glomerulonephritis: DNAJB9 is a valuable histologic marker.
Title: Clinicopathological characteristics and outcome of patients with fibrillary glomerulonephritis: DNAJB9 is a valuable histologic marker.
Hepatic DNAJB9 Drives Anabolic Biasing to Reduce Steatosis and Obesity.
Title: Hepatic DNAJB9 Drives Anabolic Biasing to Reduce Steatosis and Obesity.
Long non-coding RNA SNHG5 regulates chemotherapy resistance through the miR-32/DNAJB9 axis in acute myeloid leukemia.
Title: Long non-coding RNA SNHG5 regulates chemotherapy resistance through the miR-32/DNAJB9 axis in acute myeloid leukemia.
New developments in the diagnosis of fibrillary glomerulonephritis.
Title: New developments in the diagnosis of fibrillary glomerulonephritis.
Targeting DNAJB9, a novel ER luminal co-chaperone, to rescue DeltaF508-CFTR.
Title: Targeting DNAJB9, a novel ER luminal co-chaperone, to rescue ΔF508-CFTR.
these observations support a competition model whereby waning ER stress passively partitions ERdj4 and BiP to IRE1(LD) to initiate active repression of UPR signalling.
Title: Unstructured regions in IRE1α specify BiP-mediated destabilisation of the luminal domain dimer and repression of the UPR.
Study detected a 4-fold higher abundance of serum DNAJB9 in fibrillary glomerulonephritis (FGN) patients when compared to controls, including patients with other glomerular diseases. Serum DNAJB9 levels were also negatively associated with estimated glomerular filtration rate in patients with FGN.
Title: Serum levels of DNAJB9 are elevated in fibrillary glomerulonephritis patients.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH102951 (e-PCR)
- UniSTS:97285

RH69836 (e-PCR)
- UniSTS:55350

D7S2648 (e-PCR)
- UniSTS:6341

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Hsp70 protein binding	IEA Inferred from Electronic Annotation more info
enables misfolded protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables misfolded protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein-folding chaperone binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in B cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of IRE1-mediated unfolded protein response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of immunoglobulin production	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to endoplasmic reticulum stress	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to unfolded protein	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum lumen	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleolus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Go to the top of the page Help

Preferred Names: dnaJ homolog subfamily B member 9

Names: DnaJ (Hsp40) homolog, subfamily B, member 9; ER-resident protein ERdj4; endoplasmic reticulum DNA J domain-containing protein 4; endoplasmic reticulum DnaJ homolog 4; microvascular endothelial differentiation gene 1 protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_012328.3 → NP_036460.1 dnaJ homolog subfamily B member 9 precursor

See identical proteins and their annotated locations for NP_036460.1

Status: REVIEWED

Source sequence(s)

AB026908, DA202575

Consensus CDS

CCDS5752.1

UniProtKB/Swiss-Prot

Q9UBS3

UniProtKB/TrEMBL

Q6FIF1

Related

ENSP00000249356.3, ENST00000249356.4

Conserved Domains (1) summary

cl28246
Location:26 → 136

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]