DNAJB9

DnaJ heat shock protein family (Hsp40) member B9, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 7:108569867-108574850

Previous symbols: [ "MDG1" ]

Links

ENSG00000128590

∙ NCBI:4189 ∙ OMIM:602634 ∙ HGNC:6968 ∙ Uniprot:Q9UBS3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DNAJB9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJB9 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						0
missense			14 clinvar	1 clinvar	1 clinvar	16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	1	1

Variants in DNAJB9

This is a list of pathogenic ClinVar variants found in the DNAJB9 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Phenotype	Significance	ClinVar
7-108571745-A-G	not specified	Likely benign (Jul 11, 2022)	2391594
7-108571751-A-G	not specified	Uncertain significance (Aug 12, 2021)	2243845
7-108571799-A-G	not specified	Uncertain significance (Nov 11, 2024)	2366287
7-108571849-A-C	not specified	Uncertain significance (Mar 25, 2024)	3273049
7-108571854-A-G	not specified	Uncertain significance (Oct 26, 2022)	2342809
7-108571859-G-A	not specified	Uncertain significance (Nov 10, 2024)	3503923
7-108571873-G-C	not specified	Uncertain significance (Mar 01, 2024)	3084426
7-108571914-C-T	not specified	Uncertain significance (Feb 01, 2023)	2480361
7-108572910-C-T	not specified	Uncertain significance (May 31, 2022)	2369701
7-108572920-C-A	not specified	Uncertain significance (Apr 24, 2023)	2539817
7-108572925-A-G	not specified	Uncertain significance (Oct 03, 2022)	2208944
7-108572944-C-G	not specified	Uncertain significance (Dec 17, 2021)	2267847
7-108572967-A-C	not specified	Uncertain significance (May 28, 2024)	3273051
7-108573047-T-G	not specified	Uncertain significance (Jun 24, 2022)	2228897
7-108573081-A-G	not specified	Uncertain significance (Jun 24, 2022)	2349985
7-108573088-G-A		Benign (Jun 29, 2018)	780704
7-108573218-T-G	not specified	Uncertain significance (Jan 29, 2024)	3084428
7-108573269-T-G	not specified	Uncertain significance (Aug 21, 2023)	2620130
7-108573346-G-T	not specified	Uncertain significance (Apr 12, 2022)	3084429

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJB9	protein_coding	protein_coding	ENST00000249356	2	5283

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.365	0.624	125725	0	18	125743	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.456	131	117	1.12	0.00000566	1503
Missense in Polyphen		39	43.084	0.90522		538
Synonymous	-0.0917	39	38.3	1.02	0.00000173	385
Loss of Function	2.15	2	8.93	0.224	5.73e-7	104

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000272	0.000271
Ashkenazi Jewish	0.00	0.00
East Asian	0.000164	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.000164	0.000163
South Asian	0.000164	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Co-chaperone for Hsp70 protein HSPA5/BiP that acts as a key repressor of the ERN1/IRE1-mediated unfolded protein response (UPR) (By similarity). J domain-containing co-chaperones stimulate the ATPase activity of Hsp70 proteins and are required for efficient substrate recognition by Hsp70 proteins (PubMed:18400946). In the unstressed endoplasmic reticulum, interacts with the luminal region of ERN1/IRE1 and selectively recruits HSPA5/BiP: HSPA5/BiP disrupts the dimerization of the active ERN1/IRE1 luminal region, thereby inactivating ERN1/IRE1 (By similarity). Also involved in endoplasmic reticulum-associated degradation (ERAD) of misfolded proteins. Required for survival of B-cell progenitors and normal antibody production (By similarity). {ECO:0000250|UniProtKB:G3H0N9, ECO:0000250|UniProtKB:Q9QYI6, ECO:0000269|PubMed:18400946}.;
Pathway: XBP1(S) activates chaperone genes;Photodynamic therapy-induced unfolded protein response;VEGFA-VEGFR2 Signaling Pathway (Consensus)

Recessive Scores

pRec: 0.0998

Intolerance Scores

loftool: 0.520
rvis_EVS: 0.19
rvis_percentile_EVS: 66.82

Haploinsufficiency Scores

pHI: 0.0881
hipred: N
hipred_score: 0.290
ghis: 0.446

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: H
gene_indispensability_pred: E
gene_indispensability_score: 0.888

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Dnajb9
Phenotype: cellular phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; digestive/alimentary phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Gene ontology

Biological process: immunoglobulin production;B cell differentiation;ubiquitin-dependent ERAD pathway;response to endoplasmic reticulum stress;IRE1-mediated unfolded protein response;negative regulation of IRE1-mediated unfolded protein response
Cellular component: nucleolus;cytoplasm;endoplasmic reticulum;endoplasmic reticulum lumen;endoplasmic reticulum membrane;extracellular exosome
Molecular function: protein binding;Hsp70 protein binding;chaperone binding;misfolded protein binding