DNAJB4

DnaJ heat shock protein family (Hsp40) member B4, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 1:77979175-78017964

Links

ENSG00000162616 ∙ NCBI:11080 ∙ OMIM:611327 ∙ HGNC:14886 ∙ Uniprot:Q9UDY4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• congenital myopathy 21 with early respiratory failure (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Congenital myopathy 21 with early respiratory failure	AR	Cardiovascular	Among other features, the condition may include hypertrophic cardiomyopathy, and awareness may allow early diagnosis and management	Cardiovascular; Musculoskeletal; Neurologic	36264506; 36344539

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DNAJB4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJB4 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in DNAJB4

This is a list of pathogenic ClinVar variants found in the DNAJB4 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-77992848-C-T		DNAJB4-related disorder	Likely benign (Feb 27, 2024)
1-78005114-G-A		not specified	Uncertain significance (Oct 26, 2022)
1-78005164-A-C		not specified	Uncertain significance (Apr 28, 2023)
1-78005184-G-A		Congenital myopathy 21 with early respiratory failure	Pathogenic (Jul 16, 2024)
1-78005208-C-T		DNAJB4-related disorder	Uncertain significance (Jun 01, 2024)
1-78005267-G-A		not specified	Uncertain significance (Dec 15, 2022)
1-78005291-A-G		Congenital myopathy 21 with early respiratory failure	Pathogenic (Jul 16, 2024)
1-78013065-G-C		not specified	Uncertain significance (Aug 12, 2022)
1-78013188-G-C		not specified	Uncertain significance (Aug 08, 2023)
1-78013224-G-A		not specified	Uncertain significance (Mar 25, 2024)
1-78013277-G-C		not specified	Uncertain significance (Dec 01, 2022)
1-78013372-G-A		not specified	Uncertain significance (Sep 03, 2024)
1-78013384-C-T		not specified	Uncertain significance (Mar 31, 2024)
1-78013542-A-G		not specified	Uncertain significance (Mar 30, 2024)
1-78013597-C-T		not specified	Uncertain significance (Oct 06, 2021)
1-78016018-T-C		Congenital myopathy 21 with early respiratory failure	Pathogenic (Jul 16, 2024)
1-78016023-G-C		not specified	Uncertain significance (Feb 11, 2022)
1-78016041-C-T		not specified	Uncertain significance (Jul 25, 2023)
1-78016089-A-T		Congenital myopathy 21 with early respiratory failure	Pathogenic (Jul 16, 2024)
1-78016095-G-A		not specified	Uncertain significance (Jun 05, 2024)
1-78016108-G-T		not specified	Uncertain significance (Jan 26, 2023)
1-78016134-C-G		not specified	Uncertain significance (Oct 29, 2024)
1-78016156-G-GT		DNAJB4-related disorder	Uncertain significance (Jun 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJB4	protein_coding	protein_coding	ENST00000370763	3	38790

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0162	0.962	125728	0	16	125744	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.21	138	184	0.750	0.00000925	2220
Missense in Polyphen		23	47.995	0.47921		583
Synonymous	0.273	59	61.7	0.956	0.00000308	641
Loss of Function	2.00	5	12.7	0.394	8.43e-7	159

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000737	0.0000462
European (Non-Finnish)	0.000107	0.000105
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable chaperone. Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro) (PubMed:24318877). {ECO:0000269|PubMed:24318877}.

Intolerance Scores

• loftool: 0.438
• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.46

Haploinsufficiency Scores

• pHI: 0.620
• hipred: Y
• hipred_score: 0.783
• ghis: 0.606

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.948

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajb4

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;response to unfolded protein;response to heat;positive regulation of ATPase activity;chaperone cofactor-dependent protein refolding
• Cellular component: nucleoplasm;cytosol;plasma membrane
• Molecular function: ATPase activator activity;protein binding;unfolded protein binding;chaperone binding