DNAJC2

DnaJ heat shock protein family (Hsp40) member C2, the group of Myb/SANT domain containing|DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 7:103312288-103344830

Previous symbols: [ "ZRF1" ]

Links

ENSG00000105821 ∙ NCBI:27000 ∙ OMIM:605502 ∙ HGNC:13192 ∙ Uniprot:Q99543 ∙ 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 DNAJC2 gene.

• Inborn genetic diseases (19 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC2 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
missense			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	0	1

Variants in DNAJC2

This is a list of pathogenic ClinVar variants found in the DNAJC2 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-103312589-C-T		not specified	Uncertain significance (Jan 03, 2022)
7-103312640-G-T		not specified	Uncertain significance (Feb 28, 2024)
7-103312967-C-T		not specified	Uncertain significance (Feb 26, 2024)
7-103313085-G-C		not specified	Uncertain significance (Jul 06, 2022)
7-103313089-T-C		not specified	Uncertain significance (Mar 07, 2024)
7-103313101-C-A		not specified	Uncertain significance (Feb 15, 2023)
7-103315766-T-G		not specified	Uncertain significance (Dec 20, 2023)
7-103315770-A-C		not specified	Uncertain significance (Feb 28, 2024)
7-103315772-C-A		not specified	Uncertain significance (Dec 13, 2023)
7-103315772-C-T		not specified	Uncertain significance (Jul 08, 2022)
7-103315775-T-C		not specified	Uncertain significance (Jan 04, 2024)
7-103315784-G-A		not specified	Uncertain significance (Mar 20, 2023)
7-103315793-T-C		not specified	Uncertain significance (Oct 19, 2021)
7-103316015-C-T		not specified	Uncertain significance (Sep 22, 2023)
7-103316047-G-C		not specified	Uncertain significance (Feb 24, 2022)
7-103316923-C-T		not specified	Uncertain significance (Apr 07, 2022)
7-103316937-T-C			Benign (Jan 01, 2024)
7-103316950-G-C		not specified	Uncertain significance (Dec 26, 2023)
7-103316963-G-A		not specified	Uncertain significance (Mar 01, 2023)
7-103319669-G-C		not specified	Uncertain significance (Jan 04, 2024)
7-103319771-C-T		not specified	Uncertain significance (Aug 15, 2023)
7-103321970-T-C		not specified	Uncertain significance (Jan 03, 2024)
7-103322514-T-A		not specified	Uncertain significance (May 17, 2023)
7-103322522-C-T		not specified	Uncertain significance (Oct 21, 2021)
7-103322569-T-G		not specified	Uncertain significance (Oct 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJC2	protein_coding	protein_coding	ENST00000379263	17	32400

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.991	0.00898	124773	0	14	124787	0.0000561

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.52	234	309	0.757	0.0000151	4116
Missense in Polyphen		47	92.136	0.51012		1267
Synonymous	0.560	94	101	0.929	0.00000489	1054
Loss of Function	5.03	6	40.6	0.148	0.00000216	511

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000126	0.000126
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000557	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000628	0.0000618
Middle Eastern	0.0000557	0.0000556
South Asian	0.000101	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts both as a chaperone in the cytosol and as a chromatin regulator in the nucleus. When cytosolic, acts as a molecular chaperone: component of the ribosome-associated complex (RAC), a complex involved in folding or maintaining nascent polypeptides in a folding-competent state. In the RAC complex, stimulates the ATPase activity of the ribosome-associated pool of Hsp70-type chaperones HSPA14 that bind to the nascent polypeptide chain. When nuclear, mediates the switching from polycomb- repressed genes to an active state: specifically recruited at histone H2A ubiquitinated at 'Lys-119' (H2AK119ub), and promotes the displacement of the polycomb PRC1 complex from chromatin, thereby facilitating transcription activation. Specifically binds DNA sequence 5'-GTCAAGC-3'. {ECO:0000269|PubMed:15802566, ECO:0000269|PubMed:16002468, ECO:0000269|PubMed:21179169}.
• 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: 0.118

Intolerance Scores

• loftool: 0.357
• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.35

Haploinsufficiency Scores

• pHI: 0.613
• hipred: N
• hipred_score: 0.465
• ghis: 0.576

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.877

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajc2

Gene ontology

• Biological process: DNA replication;chromatin organization;regulation of transcription by RNA polymerase II;positive regulation of ATPase activity;positive regulation of transcription, DNA-templated;'de novo' cotranslational protein folding;regulation of cellular response to heat;negative regulation of DNA biosynthetic process
• Cellular component: nucleus;nucleoplasm;cytoplasm;cytosol;nuclear membrane
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;ATPase activator activity;DNA binding;chromatin binding;RNA binding;protein binding;Hsp70 protein binding;histone binding;ubiquitin modification-dependent histone binding