DNAJC12
DnaJ Heat Shock Protein Family (Hsp40) Member C12
Gene Information Card
| Symbol | DNAJC12 |
|---|---|
| Full Name | DnaJ Heat Shock Protein Family (Hsp40) Member C12 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q21.3 |
| NCBI Gene ID | 56521 ncbi.nlm.nih.gov/gene/56521 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | Q9NXW2 |
| OMIM ID | 614713 |
| HGNC ID | 28908 |
| Aliases | JDP1, DnaJ homolog subfamily C member 12 |
Description
DNAJC12 encodes a member of the DnaJ/Hsp40 family of co-chaperones, which stimulate the ATPase activity of Hsp70 chaperones to assist in protein folding, assembly, and degradation. The protein is localized to the endoplasmic reticulum and is involved in the maturation of phenylalanine hydroxylase and tyrosine hydroxylase, critical for neurotransmitter synthesis. Loss-of-function mutations lead to hyperphenylalaninemia and brain monoamine neurotransmitter deficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperphenylalaninemia, BH4-deficient, DOPA-responsive | Impaired chaperone function reduces phenylalanine hydroxylase activity, leading to phenylalanine accumulation and neurotransmitter deficiency | OMIM #617384; ClinVar; Anikster et al. 2017 (PMID: 28250419) |
| DNAJC12 deficiency | Biallelic loss-of-function mutations cause early-onset dystonia, parkinsonism, and intellectual disability due to defective neurotransmitter synthesis | OMIM #617384; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Medium |
| Kidney | 6.1 | Low |
| Heart | 4.3 | Low |
| Testis | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HepG2 | 10.2 | Moderate expression |
| SH-SY5Y | 7.5 | Moderate expression |
| K562 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.79C>T (p.Arg27*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.158_159del (p.Glu53Valfs*19) | Frameshift deletion | Rare | Loss of function; truncated protein |
| c.292C>T (p.Arg98*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.418G>A (p.Gly140Arg) | Missense | Rare | Likely loss of function; impaired chaperone activity |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (nonsense, frameshift, missense) cause DNAJC12 deficiency, leading to hyperphenylalaninemia and neurotransmitter deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein folding (GO:0006457) | • endoplasmic reticulum (GO:0005783) |
| • Hsp70 protein binding (GO:0030544) | • protein binding (GO:0005515) |
| • unfolded protein binding (GO:0051082) |
Pathways
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• Phenylalanine metabolism (KEGG: hsa00360)
• Chaperone-mediated protein folding
Protein Summary
DNAJC12 is a 222-amino acid co-chaperone of the Hsp40 family, containing a conserved J-domain that interacts with Hsp70 to regulate ATPase activity. It is predominantly expressed in the liver and brain, where it facilitates the folding of aromatic amino acid hydroxylases (phenylalanine hydroxylase, tyrosine hydroxylase, tryptophan hydroxylase). Deficiency disrupts dopamine and serotonin synthesis, causing neurological and metabolic phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAJC12 Knockout HEK293 Cell Line | EDJ-KQ51535 | Human | 56521 | Details Get a Quote |
| DNAJC12 Knockout HeLa Cell Line | EDJ-KQ56739 | Human | 56521 | Details Get a Quote |
| DNAJC12 Knockout A-549 Cell Line | EDJ-KQ65244 | Human | 56521 | Details Get a Quote |
| DNAJC12 Knockout HCT 116 Cell Line | EDJ-KQ73685 | Human | 56521 | Details Get a Quote |
