DNAJC7

DnaJ heat shock protein family (Hsp40) member C7, the group of Tetratricopeptide repeat domain containing|DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 17:41976421-42021376

Previous symbols: [ "TTC2" ]

Links

ENSG00000168259 ∙ NCBI:7266 ∙ OMIM:601964 ∙ HGNC:12392 ∙ Uniprot:Q99615 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• amyotrophic lateral sclerosis (Limited), mode of inheritance: AD
• amyotrophic lateral sclerosis (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DNAJC7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC7 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				1	1	2
missense			16			16
nonsense						0
start loss			1			1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding					9	9
Total	0	0	17	1	10

Variants in DNAJC7

This is a list of pathogenic ClinVar variants found in the DNAJC7 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-41976759-C-G		not specified	Uncertain significance (Aug 11, 2024)
17-41977224-T-G			Benign (May 12, 2021)
17-41977285-C-T		not specified	Uncertain significance (Feb 14, 2024)
17-41982377-G-A		Epilepsy;Neurodevelopmental delay	Uncertain significance (Nov 20, 2017)
17-41983568-G-C		not specified	Uncertain significance (Sep 26, 2024)
17-41983601-C-T		not specified	Uncertain significance (Mar 06, 2023)
17-41987883-C-A		not specified	Uncertain significance (Nov 03, 2022)
17-41988760-T-A		not specified	Uncertain significance (Oct 06, 2022)
17-41988782-T-C		not specified	Uncertain significance (Jun 29, 2023)
17-41989457-C-T		not specified	Uncertain significance (Jul 15, 2021)
17-41989516-T-G		DNAJC7-related condition	Uncertain significance (Sep 18, 2024)
17-41989531-T-C		not specified	Uncertain significance (Dec 07, 2024)
17-41990103-C-T			Benign (May 11, 2021)
17-41990222-TG-T			Benign (May 11, 2021)
17-41990284-T-C			Benign (May 04, 2021)
17-41990351-A-T		not specified	Uncertain significance (Jul 17, 2023)
17-41990364-G-A		not specified	Uncertain significance (Feb 14, 2023)
17-41994886-T-C		not specified	Uncertain significance (Feb 22, 2023)
17-41994898-G-C		not specified	Uncertain significance (Apr 27, 2022)
17-41994929-C-T		not specified	Uncertain significance (Apr 08, 2022)
17-41994952-G-A			Benign (May 04, 2021)
17-41996329-A-G			Likely benign (May 01, 2022)
17-41996366-C-T		not specified	Uncertain significance (Feb 10, 2022)
17-41997144-A-C		not specified	Uncertain significance (Dec 09, 2023)
17-41997236-A-G		Amyotrophic lateral sclerosis	Uncertain significance (Sep 09, 2020)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJC7	protein_coding	protein_coding	ENST00000457167	14	44944

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.990	0.00993	124634	0	7	124641	0.0000281

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.51	158	275	0.574	0.0000145	3281
Missense in Polyphen		20	60.921	0.32829		712
Synonymous	-0.327	100	95.9	1.04	0.00000490	860
Loss of Function	4.54	4	31.5	0.127	0.00000187	362

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000559	0.0000556
Finnish	0.0000476	0.0000464
European (Non-Finnish)	0.0000360	0.0000354
Middle Eastern	0.0000559	0.0000556
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as co-chaperone regulating the molecular chaperones HSP70 and HSP90 in folding of steroid receptors, such as the glucocorticoid receptor and the progesterone receptor. Proposed to act as a recycling chaperone by facilitating the return of chaperone substrates to early stages of chaperoning if further folding is required. In vitro, induces ATP-independent dissociation of HSP90 but not of HSP70 from the chaperone- substrate complexes. Recruits NR1I3 to the cytoplasm (By similarity). {ECO:0000250, ECO:0000269|PubMed:12853476, ECO:0000269|PubMed:18620420}.
• Pathway: Constitutive Androstane Receptor Pathway;Pregnane X Receptor pathway;Nuclear Receptors Meta-Pathway;Regulation of HSF1-mediated heat shock response;Cellular responses to stress;Cellular responses to external stimuli;Cellular response to heat stress (Consensus)

Recessive Scores

• pRec: 0.244

Intolerance Scores

• rvis_EVS: -0.43
• rvis_percentile_EVS: 25.15

Haploinsufficiency Scores

• pHI: 0.466
• hipred: Y
• hipred_score: 0.662
• ghis: 0.662

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.907

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajc7
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype

Gene ontology

• Biological process: protein folding;positive regulation of ATPase activity;chaperone cofactor-dependent protein refolding;regulation of cellular response to heat
• Cellular component: nucleoplasm;cytoplasm;cytosol;cytoskeleton;membrane;extracellular exosome
• Molecular function: ATPase activator activity;protein binding;heat shock protein binding