DNAJB3

DnaJ heat shock protein family (Hsp40) member B3, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 2:233743188-233743916

Links

ENSG00000227802 ∙ NCBI:414061 ∙ ∙ HGNC:32397 ∙ Uniprot:Q8WWF6 ∙ 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 DNAJB3 gene.

• Inborn genetic diseases (3 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJB3 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			3		1	4
Total	0	0	3	0	1

Variants in DNAJB3

This is a list of pathogenic ClinVar variants found in the DNAJB3 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-233743483-T-C		not specified	Uncertain significance (Sep 16, 2021)
2-233743531-A-T		not specified	Uncertain significance (Sep 16, 2021)
2-233743622-C-T			Benign (Apr 04, 2018)
2-233743834-A-G		not specified	Uncertain significance (Jul 20, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May operate as a co-chaperone of the male germ cell- and haploid stage-specific Hsp70 proteins. {ECO:0000305}.

Essentials

• gene_indispensability_pred: E
• gene_indispensability_score: 0.824