This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] See more...

Aliases for DNAJC12 Gene

Aliases for DNAJC12 Gene

  • DnaJ Heat Shock Protein Family (Hsp40) Member C12 2 3 5
  • DnaJ (Hsp40) Homolog, Subfamily C, Member 12 2 3
  • DnaJ Homolog Subfamily C Member 12 3 4
  • J Domain-Containing Protein 1 3 4
  • J Domain Protein 1 2 3
  • JDP1 3 4
  • J Domain Containing Protein 1 (JDP1) 3
  • HPANBH4 3

External Ids for DNAJC12 Gene

Previous GeneCards Identifiers for DNAJC12 Gene

  • GC10M068902
  • GC10M069226
  • GC10M069556
  • GC10M063555

Summaries for DNAJC12 Gene

Entrez Gene Summary for DNAJC12 Gene

  • This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for DNAJC12 Gene

DNAJC12 (DnaJ Heat Shock Protein Family (Hsp40) Member C12) is a Protein Coding gene. Diseases associated with DNAJC12 include Hyperphenylalaninemia, Mild, Non-Bh4-Deficient and Hyperphenylalaninemia. An important paralog of this gene is DNAJC13.

Additional gene information for DNAJC12 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAJC12 Gene

Genomics for DNAJC12 Gene

GeneHancer (GH) Regulatory Elements for DNAJC12 Gene

Promoters and enhancers for DNAJC12 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J067837 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.9 905 3 FOXK2 ZNF217 ZSCAN5C USF1 GTF2E2 SIX5 POLR2A CLOCK REST DNMT1 DNAJC12 SIRT1 HERC4 HNRNPH3 CCAR1 DNAJC19P1 lnc-SIRT1-4
GH10J067815 Enhancer 1.3 FANTOM5 Ensembl ENCODE 15.5 +20.5 20460 5.7 TCF12 ZNF639 TCF7 FOXA1 RFX1 CUX1 TEAD1 ATF2 TBX3 CTBP1 SIRT1 CCAR1 DNAJC12 RPL12P8 MYPN HSALNG0078474 RN7SL394P RNU6-1250P RF00026-146 lnc-HERC4-3
GH10J067822 Enhancer 0.2 FANTOM5 3.6 +15.3 15328 0.3 SIRT1 DNAJC12 HSALNG0078474 RN7SL394P lnc-HERC4-3 RF00026-146 RNU6-1250P
GH10J067834 Enhancer 0.4 Ensembl 0.7 +4.5 4490 1 NFIC ZBTB40 ZNF366 ZNF596 DNAJC19P1 lnc-SIRT1-4 DNAJC12 HSALNG0078474 RN7SL394P lnc-HERC4-3
GH10J067802 Enhancer 0.9 ENCODE 0.3 +34.6 34618 1.7 EP300 FOXK2 TCF12 POLR2G NCOR1 KDM6A TCF7 FOXA1 ZBTB25 SKI SIRT1 HNRNPH3 HERC4 CTNNA3 RF00026-146 RNU6-1250P lnc-SIRT1-8 DNAJC12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNAJC12 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAJC12

Top Transcription factor binding sites by QIAGEN in the DNAJC12 gene promoter:
  • COUP
  • COUP-TF1
  • CP1C
  • HNF-4alpha1
  • HNF-4alpha2
  • LCR-F1
  • NF-Y
  • NF-YA
  • NF-YB

Genomic Locations for DNAJC12 Gene

Genomic Locations for DNAJC12 Gene
41,527 bases
Minus strand
41,511 bases
Minus strand

Genomic View for DNAJC12 Gene

Genes around DNAJC12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAJC12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAJC12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAJC12 Gene

Proteins for DNAJC12 Gene

  • Protein details for DNAJC12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    DnaJ homolog subfamily C member 12
    Protein Accession:
    Secondary Accessions:
    • Q5JVQ1
    • Q9UKB2

    Protein attributes for DNAJC12 Gene

    198 amino acids
    Molecular mass:
    23415 Da
    Quaternary structure:
    • Interacts with HSPA8.

    Three dimensional structures from OCA and Proteopedia for DNAJC12 Gene

    Alternative splice isoforms for DNAJC12 Gene


neXtProt entry for DNAJC12 Gene

Post-translational modifications for DNAJC12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DNAJC12 Gene

No data available for DME Specific Peptides for DNAJC12 Gene

Domains & Families for DNAJC12 Gene

Gene Families for DNAJC12 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for DNAJC12 Gene


Suggested Antigen Peptide Sequences for DNAJC12 Gene

GenScript: Design optimal peptide antigens:
  • J domain-containing protein 1 (DJC12_HUMAN)
genes like me logo Genes that share domains with DNAJC12: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DNAJC12 Gene

Function for DNAJC12 Gene

Molecular function for DNAJC12 Gene

UniProtKB/Swiss-Prot Induction:
Up-regulated by ER stress.

Phenotypes From GWAS Catalog for DNAJC12 Gene

Gene Ontology (GO) - Molecular Function for DNAJC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24122553
genes like me logo Genes that share ontologies with DNAJC12: view
genes like me logo Genes that share phenotypes with DNAJC12: view

Human Phenotype Ontology for DNAJC12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for DNAJC12 Gene

miRTarBase miRNAs that target DNAJC12

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for DNAJC12 Gene

Localization for DNAJC12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAJC12 Gene

[Isoform a]: Cytoplasm.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNAJC12 gene
Compartment Confidence
nucleus 3
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for DNAJC12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 24122553
genes like me logo Genes that share ontologies with DNAJC12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DNAJC12 Gene

Pathways & Interactions for DNAJC12 Gene

PathCards logo

SuperPathways for DNAJC12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DNAJC12 Gene


No data available for Pathways by source and SIGNOR curated interactions for DNAJC12 Gene

Drugs & Compounds for DNAJC12 Gene

No Compound Related Data Available

Transcripts for DNAJC12 Gene

mRNA/cDNA for DNAJC12 Gene

6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNAJC12 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - - -
SP5: - -
SP6: - - - -

Relevant External Links for DNAJC12 Gene

GeneLoc Exon Structure for

Expression for DNAJC12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNAJC12 Gene

mRNA differential expression in normal tissues according to GTEx for DNAJC12 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.7) and Liver (x4.2).

Protein differential expression in normal tissues from HIPED for DNAJC12 Gene

This gene is overexpressed in Heart (23.9), Liver (23.2), Testis (11.4), and Pancreas (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNAJC12 Gene

Protein tissue co-expression partners for DNAJC12 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNAJC12

SOURCE GeneReport for Unigene cluster for DNAJC12 Gene:


mRNA Expression by UniProt/SwissProt for DNAJC12 Gene:

Tissue specificity: Expressed at high levels in brain, heart, and testis, and at reduced levels in kidney and stomach.

Evidence on tissue expression from TISSUES for DNAJC12 Gene

  • Lung(4)
genes like me logo Genes that share expression patterns with DNAJC12: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAJC12 Gene

Orthologs for DNAJC12 Gene

This gene was present in the common ancestor of animals.

Orthologs for DNAJC12 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DNAJC12 31 30
  • 99.16 (n)
(Canis familiaris)
Mammalia DNAJC12 31 30
  • 92.93 (n)
(Bos Taurus)
Mammalia DNAJC12 31 30
  • 89.23 (n)
(Mus musculus)
Mammalia Dnajc12 17 31 30
  • 80.13 (n)
(Rattus norvegicus)
Mammalia Dnajc12 30
  • 80.13 (n)
(Monodelphis domestica)
Mammalia DNAJC12 31
  • 68 (a)
(Ornithorhynchus anatinus)
Mammalia DNAJC12 31
  • 57 (a)
(Gallus gallus)
Aves DNAJC12 31 30
  • 70.92 (n)
(Anolis carolinensis)
Reptilia DNAJC12 31
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493658 30
  • 63.59 (n)
(Danio rerio)
Actinopterygii dnajc12 31 30
  • 64.44 (n)
Dr.14456 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.937 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000970 30
  • 50.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta jdp 31 30
  • 48.98 (n)
(Caenorhabditis elegans)
Secernentea K07F5.16 31
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10333 31
  • 39 (a)
Species where no ortholog for DNAJC12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DNAJC12 Gene

Gene Tree for DNAJC12 (if available)
Gene Tree for DNAJC12 (if available)
Evolutionary constrained regions (ECRs) for DNAJC12: view image

Paralogs for DNAJC12 Gene

(3) SIMAP similar genes for DNAJC12 Gene using alignment to 4 proteins:

  • S4R368_HUMAN
  • S4R3E2_HUMAN
  • S4R3W0_HUMAN Pseudogenes for DNAJC12 Gene

genes like me logo Genes that share paralogs with DNAJC12: view

Variants for DNAJC12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAJC12 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
636261 Pathogenic: Hyperphenylalaninemia, mild, non-bh4-deficient 67,837,952(-) TCC/T FRAMESHIFT_VARIANT
694071 Pathogenic: Hyperphenylalaninemia, mild, non-bh4-deficient 67,823,385(-) TG/T FRAMESHIFT_VARIANT
694072 Pathogenic: Hyperphenylalaninemia, mild, non-bh4-deficient 67,797,117(-) C/A STOP_LOST
694073 Pathogenic: Hyperphenylalaninemia, mild, non-bh4-deficient 67,811,607(-) G/A NONSENSE
694074 Pathogenic: Hyperphenylalaninemia, mild, non-bh4-deficient 67,811,634(-) T/A NONSENSE

Additional dbSNP identifiers (rs#s) for DNAJC12 Gene

Structural Variations from Database of Genomic Variants (DGV) for DNAJC12 Gene

Variant ID Type Subtype PubMed ID
esv1000438 CNV insertion 20482838
esv1143947 CNV insertion 17803354
esv3623695 CNV loss 21293372
nsv473022 CNV novel sequence insertion 20440878
nsv551433 CNV loss 21841781
nsv948043 CNV duplication 23825009

Variation tolerance for DNAJC12 Gene

Residual Variation Intolerance Score: 57.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.69; 46.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAJC12 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAJC12 Gene

Disorders for DNAJC12 Gene

MalaCards: The human disease database

(6) MalaCards diseases for DNAJC12 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hyperphenylalaninemia, mild, non-bh4-deficient
  • hpanbh4
  • hyperphenylalaninaemia
mild hyperphenylalaninemia
  • mild hpa
non-proliferative fibrocystic change of the breast
  • non-proliferative fibrocystic change
proliferative type fibrocystic change of breast
  • fibrocystic change, proliferative type with atypia
- elite association - COSMIC cancer census association via MalaCards


  • Hyperphenylalaninemia, mild, non-BH4-deficient (HPANBH4) [MIM:617384]: An autosomal recessive disorder characterized by increased serum phenylalanine, normal BH4 metabolism, and highly variable neurologic defects, including movement abnormalities and intellectual disability. {ECO:0000269 PubMed:28132689}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DNAJC12

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DNAJC12: view

No data available for Genatlas for DNAJC12 Gene

Publications for DNAJC12 Gene

  1. Characterization of JDP genes, an evolutionarily conserved J domain-only protein family, from human and moths. (PMID: 10760603) Lee J … Chung JH (Biochimica et biophysica acta 2000) 2 3 4 54
  2. Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. (PMID: 28132689) Anikster Y … Schiff M (American journal of human genetics 2017) 3 4 54
  3. The co-chaperone DNAJC12 binds to Hsc70 and is upregulated by endoplasmic reticulum stress. (PMID: 24122553) Choi J … Labrie C (Cell stress & chaperones 2014) 3 4 54
  4. Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease. (PMID: 17373700) Morgan AR … Williams J (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007) 3 41 54
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 41 54

Products for DNAJC12 Gene

Sources for DNAJC12 Gene