DNAJC15

DnaJ heat shock protein family (Hsp40) member C15, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 13:43023203-43114213

Previous symbols: [ "DNAJD1" ]

Links

ENSG00000120675

∙ NCBI:29103 ∙ OMIM:615339 ∙ HGNC:20325 ∙ Uniprot:Q9Y5T4 ∙ 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 DNAJC15 gene.

not_specified (27 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC15 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000013238.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			25 clinvar	2 clinvar		27
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	25	2	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJC15	protein_coding	protein_coding	ENST00000379221	6	85707

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.68e-10	0.0171	125689	0	59	125748	0.000235

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.421	91	80.4	1.13	0.00000401	946
Missense in Polyphen		23	22.35	1.0291		276
Synonymous	-1.42	37	27.5	1.34	0.00000139	294
Loss of Function	-1.03	13	9.57	1.36	4.89e-7	112

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000183	0.000183
Ashkenazi Jewish	0.00	0.00
East Asian	0.000493	0.000489
Finnish	0.0000954	0.0000924
European (Non-Finnish)	0.000276	0.000255
Middle Eastern	0.000493	0.000489
South Asian	0.000427	0.000425
Other	0.000367	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Negative regulator of the mitochondrial respiratory chain. Prevents mitochondrial hyperpolarization state and restricts mitochondrial generation of ATP (By similarity). Acts as an import component of the TIM23 translocase complex. Stimulates the ATPase activity of HSPA9. {ECO:0000250, ECO:0000269|PubMed:23263864}.;
Pathway: Glucocorticoid Receptor Pathway;Nuclear Receptors Meta-Pathway (Consensus)

Recessive Scores

pRec: 0.105

Intolerance Scores

loftool: 0.815
rvis_EVS: 0.17
rvis_percentile_EVS: 65.56

Haploinsufficiency Scores

pHI: 0.0612
hipred: N
hipred_score: 0.177
ghis: 0.455

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.0384

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Dnajc15
Phenotype: hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; immune system phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: cellular response to starvation;regulation of lipid metabolic process;protein import into mitochondrial matrix;negative regulation of protein complex assembly;positive regulation of ATPase activity;negative regulation of mitochondrial electron transport, NADH to ubiquinone
Cellular component: PAM complex, Tim23 associated import motor;integral component of membrane
Molecular function: ATPase activator activity;protein binding;protein transporter activity