DNAJB12

DnaJ heat shock protein family (Hsp40) member B12, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 10:72332830-72355149

Links

ENSG00000148719 ∙ NCBI:54788 ∙ OMIM:608376 ∙ HGNC:14891 ∙ Uniprot:Q9NXW2 ∙ 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 DNAJB12 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJB12 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			15	1		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	1	0

Variants in DNAJB12

This is a list of pathogenic ClinVar variants found in the DNAJB12 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-72336563-C-T		not specified	Uncertain significance (Mar 25, 2024)
10-72336583-T-G		not specified	Uncertain significance (Nov 10, 2022)
10-72336590-C-T		not specified	Uncertain significance (Apr 08, 2024)
10-72336650-C-T		not specified	Uncertain significance (Oct 29, 2021)
10-72336656-C-T		not specified	Likely benign (Mar 01, 2023)
10-72336692-C-T		not specified	Uncertain significance (Oct 16, 2023)
10-72338227-G-C		not specified	Uncertain significance (Dec 22, 2023)
10-72340809-G-A		not specified	Uncertain significance (Apr 07, 2023)
10-72340810-G-C		not specified	Uncertain significance (Nov 30, 2022)
10-72340850-C-T		not specified	Uncertain significance (Mar 20, 2023)
10-72340990-G-C		not specified	Uncertain significance (May 11, 2022)
10-72341108-C-T		not specified	Uncertain significance (Jan 26, 2022)
10-72345019-G-A		not specified	Uncertain significance (Jan 16, 2024)
10-72345073-G-A		not specified	Uncertain significance (Dec 23, 2022)
10-72354824-T-C		not specified	Uncertain significance (Jan 26, 2022)
10-72354871-C-A		not specified	Uncertain significance (Sep 16, 2021)
10-72354899-G-A		not specified	Uncertain significance (Aug 03, 2022)
10-72354954-C-G		not specified	Uncertain significance (Oct 25, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJB12	protein_coding	protein_coding	ENST00000338820	8	22401

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.440	0.560	125730	0	18	125748	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.580	238	265	0.900	0.0000153	2663
Missense in Polyphen		52	93.26	0.55758		1022
Synonymous	-0.179	114	112	1.02	0.00000694	832
Loss of Function	3.13	4	18.5	0.216	9.68e-7	206

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000231	0.000210
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.000229	0.000229
Other	0.000163	0.000163

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:21150129, PubMed:21148293). Acts by determining HSPA8/Hsc70's ATPase and polypeptide-binding activities. Can also act independently of HSPA8/Hsc70: together with DNAJB14, 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 DNAJB14 and HSPA8/Hsc70 within the nucleus; the role of these structures, named DJANGOs, is still unclear (PubMed:24732912). {ECO:0000269|PubMed:21148293, ECO:0000269|PubMed:21150129, ECO:0000269|PubMed:24732912, ECO:0000269|PubMed:27916661}.
• Pathway: Protein processing in endoplasmic reticulum - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.128

Intolerance Scores

• loftool: 0.608
• rvis_EVS: -0.11
• rvis_percentile_EVS: 45.36

Haploinsufficiency Scores

• pHI: 0.310
• hipred: Y
• hipred_score: 0.554
• ghis: 0.583

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.802

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajb12
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

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