DNAJB14

DnaJ heat shock protein family (Hsp40) member B14, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 4:99896248-99946618

Links

ENSG00000164031 ∙ NCBI:79982 ∙ OMIM:617487 ∙ HGNC:25881 ∙ Uniprot:Q8TBM8 ∙ 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 DNAJB14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJB14 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			14
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	0	0

Variants in DNAJB14

This is a list of pathogenic ClinVar variants found in the DNAJB14 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-99901056-C-T		not specified	Uncertain significance (May 04, 2022)
4-99901104-C-T		not specified	Uncertain significance (Feb 28, 2023)
4-99903799-T-G		not specified	Uncertain significance (May 03, 2023)
4-99905655-C-G		not specified	Uncertain significance (Nov 08, 2022)
4-99906521-C-T		not specified	Uncertain significance (Nov 22, 2023)
4-99906522-C-T		not specified	Uncertain significance (Jun 30, 2024)
4-99906531-C-G		not specified	Uncertain significance (Sep 11, 2024)
4-99908873-A-C		not specified	Uncertain significance (Dec 20, 2021)
4-99908875-A-G		not specified	Uncertain significance (Jul 09, 2024)
4-99923144-G-A		not specified	Uncertain significance (Mar 27, 2023)
4-99923145-T-C		not specified	Uncertain significance (Apr 15, 2024)
4-99930457-C-T		not specified	Uncertain significance (Apr 13, 2023)
4-99930514-T-C		not specified	Uncertain significance (Jan 09, 2023)
4-99930540-T-A		not specified	Uncertain significance (Nov 07, 2024)
4-99930544-C-T		not specified	Uncertain significance (Apr 25, 2023)
4-99930555-G-A		not specified	Uncertain significance (Feb 27, 2023)
4-99930564-C-T		not specified	Uncertain significance (Aug 23, 2021)
4-99946444-G-C		not specified	Uncertain significance (Aug 02, 2023)
4-99946477-T-C		not specified	Uncertain significance (Feb 28, 2024)
4-99946546-T-G		not specified	Uncertain significance (Sep 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJB14	protein_coding	protein_coding	ENST00000442697	8	50479

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.939	0.0613	125681	0	8	125689	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.69	135	203	0.666	0.00000995	2500
Missense in Polyphen		34	65.402	0.51986		889
Synonymous	-0.258	74	71.2	1.04	0.00000340	671
Loss of Function	3.76	3	22.1	0.136	0.00000140	257

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.0000997	0.0000992
East Asian	0.0000545	0.0000544
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000265	0.0000264
Middle Eastern	0.0000545	0.0000544
South Asian	0.0000369	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a co-chaperone with HSPA8/Hsc70; required to promote protein folding and trafficking, prevent aggregation of client proteins, and promote unfolded proteins to endoplasmic reticulum-associated degradation (ERAD) pathway (PubMed:24732912). Acts by determining HSPA8/Hsc70's ATPase and polypeptide-binding activities (PubMed:24732912). Can also act independently of HSPA8/Hsc70: together with DNAJB12, acts as a chaperone that promotes maturation of potassium channels KCND2 and KCNH2 by stabilizing nascent channel subunits and assembling them into tetramers (PubMed:27916661). While stabilization of nascent channel proteins is dependent on HSPA8/Hsc70, the process of oligomerization of channel subunits is independent of HSPA8/Hsc70 (PubMed:27916661). When overexpressed, forms membranous structures together with DNAJB12 and HSPA8/Hsc70 within the nucleus; the role of these structures, named DJANGOs, is still unclear (PubMed:24732912). {ECO:0000269|PubMed:23018488, ECO:0000269|PubMed:24732912, ECO:0000269|PubMed:27916661}.

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.248
• rvis_EVS: -0.29
• rvis_percentile_EVS: 32.94

Haploinsufficiency Scores

• pHI: 0.208
• hipred: Y
• hipred_score: 0.728
• ghis: 0.666

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajb14

Gene ontology

• Biological process: ubiquitin-dependent ERAD pathway;cellular protein-containing complex assembly;chaperone cofactor-dependent protein refolding;cellular response to misfolded protein
• Cellular component: endoplasmic reticulum;endoplasmic reticulum membrane;membrane;integral component of membrane;nuclear membrane
• Molecular function: Hsp70 protein binding