DNAJC10

DnaJ heat shock protein family (Hsp40) member C10, the group of Protein disulfide isomerases|DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 2:182716254-182794464

Links

ENSG00000077232 ∙ NCBI:54431 ∙ OMIM:607987 ∙ HGNC:24637 ∙ Uniprot:Q8IXB1 ∙ 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 DNAJC10 gene.

• Inborn genetic diseases (28 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC10 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			28			28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	0	0

Variants in DNAJC10

This is a list of pathogenic ClinVar variants found in the DNAJC10 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-182718138-A-C		not specified	Uncertain significance (Aug 23, 2021)
2-182718138-A-G		not specified	Uncertain significance (Jan 17, 2024)
2-182718188-G-T		not specified	Uncertain significance (Jan 16, 2024)
2-182718289-C-T		not specified	Uncertain significance (Apr 18, 2023)
2-182720007-A-C		not specified	Uncertain significance (Aug 04, 2021)
2-182720058-G-A		not specified	Uncertain significance (Sep 12, 2023)
2-182722073-T-A		not specified	Uncertain significance (Sep 29, 2022)
2-182728584-G-A		not specified	Uncertain significance (Jan 30, 2024)
2-182728972-T-A		not specified	Uncertain significance (Nov 08, 2021)
2-182728977-A-G		not specified	Uncertain significance (Jun 03, 2022)
2-182729909-A-G		not specified	Uncertain significance (May 16, 2023)
2-182732507-A-G		not specified	Uncertain significance (Feb 05, 2024)
2-182736364-A-G		not specified	Uncertain significance (Jul 30, 2023)
2-182740377-A-T		not specified	Uncertain significance (Jan 26, 2022)
2-182741247-G-A		not specified	Uncertain significance (Jan 16, 2024)
2-182741255-C-T		not specified	Uncertain significance (Jan 11, 2023)
2-182741261-C-T		not specified	Uncertain significance (Feb 01, 2023)
2-182743604-A-G		not specified	Uncertain significance (May 27, 2022)
2-182743709-C-A		not specified	Uncertain significance (Mar 31, 2022)
2-182751705-A-T		not specified	Uncertain significance (May 31, 2023)
2-182751748-A-G		not specified	Uncertain significance (Jun 10, 2022)
2-182752075-T-C		not specified	Uncertain significance (Jul 05, 2023)
2-182752111-A-G		not specified	Uncertain significance (Jul 09, 2021)
2-182757714-T-G		not specified	Uncertain significance (Oct 26, 2022)
2-182759174-T-C		not specified	Likely benign (Oct 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJC10	protein_coding	protein_coding	ENST00000264065	22	78193

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.19e-8	1.00	125651	0	95	125746	0.000378

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.108	406	400	1.02	0.0000192	5230
Missense in Polyphen		154	155.44	0.99073		2017
Synonymous	-0.584	143	134	1.06	0.00000677	1399
Loss of Function	3.65	22	49.8	0.442	0.00000262	602

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000485	0.000480
Ashkenazi Jewish	0.000993	0.000993
East Asian	0.000381	0.000381
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000321	0.000316
Middle Eastern	0.000381	0.000381
South Asian	0.000693	0.000686
Other	0.000656	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Endoplasmic reticulum disulfide reductase involved both in the correct folding of proteins and degradation of misfolded proteins. Required for efficient folding of proteins in the endoplasmic reticulum by catalyzing the removal of non-native disulfide bonds formed during the folding of proteins, such as LDLR. Also involved in endoplasmic reticulum-associated degradation (ERAD) by reducing incorrect disulfide bonds in misfolded glycoproteins recognized by EDEM1. Interaction with HSPA5 is required its activity, not for the disulfide reductase activity, but to facilitate the release of DNAJC10 from its substrate. Promotes apoptotic signaling pathway in response to endoplasmic reticulum stress. {ECO:0000269|PubMed:12411443, ECO:0000269|PubMed:18400946, ECO:0000269|PubMed:19122239, ECO:0000269|PubMed:23769672}.
• Pathway: Protein processing in endoplasmic reticulum - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.125

Intolerance Scores

• loftool: 0.924
• rvis_EVS: 0.71
• rvis_percentile_EVS: 85.73

Haploinsufficiency Scores

• pHI: 0.539
• hipred: Y
• hipred_score: 0.706
• ghis: 0.517

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.544

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Dnajc10
• Phenotype: cellular phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; digestive/alimentary phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: negative regulation of protein phosphorylation;ubiquitin-dependent ERAD pathway;positive regulation of ATPase activity;protein folding in endoplasmic reticulum;response to endoplasmic reticulum stress;cell redox homeostasis;oxidation-reduction process;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
• Cellular component: endoplasmic reticulum;endoplasmic reticulum lumen;membrane;endoplasmic reticulum chaperone complex
• Molecular function: ATPase activator activity;protein binding;protein disulfide oxidoreductase activity;disulfide oxidoreductase activity;oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor;Hsp70 protein binding;chaperone binding;ATPase binding;misfolded protein binding