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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
  • J Domain-Containing Protein 1 3 4
  • J Domain Protein 1 2 3
  • JDP1 3 4
  • J Domain Containing Protein 1 (JDP1) 3
  • DnaJ Homolog Subfamily C Member 12 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 DNAJC17.

Additional gene information for DNAJC12 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAJC12 Gene

Genomics for DNAJC12 Gene

Regulatory Elements for DNAJC12 Gene

Enhancers for DNAJC12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H067815 0.9 ENCODE 12.4 +21.0 20982 4 HDAC1 ELF3 PKNOX1 FOXA2 FEZF1 BMI1 THRB RFX5 RCOR1 FOS SIRT1 DNAJC12 MYPN RNU6-1250P RN7SL394P GC10M067826
GH10H067819 1.1 FANTOM5 ENCODE 3.4 +18.1 18122 0 PKNOX1 MXI1 FOXA2 SAP130 MAX SIN3A ZBTB7B POLR2A ZNF366 FOS CCAR1 SIRT1 RPL12P8 DNAJC12 RN7SL394P GC10M067826 RNU6-1250P
GH10H067822 0.3 FANTOM5 3.6 +15.3 15328 0 SIRT1 DNAJC12 RN7SL394P GC10M067826 RNU6-1250P
GH10H067837 1 ENCODE 0.7 0.0 -40 1 PKNOX1 FOXA2 ATF1 ARNT ARID4B SIN3A FEZF1 YY1 ZNF143 ATF7 SIRT1 DNAJC12 ENSG00000272892
GH10H067843 0.4 ENCODE 0.4 -5.7 -5740 1 ZNF316 SIRT1 ATOH7 DNAJC12 ENSG00000272892
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DNAJC12 on UCSC Golden Path with GeneCards custom track

Promoters for DNAJC12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000029102 290 600 PKNOX1 FOXA2 ATF1 ARNT ARID4B SIN3A FEZF1 YY1 ZNF143 ATF7

Genomic Location for DNAJC12 Gene

Chromosome:
10
Start:
67,796,665 bp from pter
End:
67,838,191 bp from pter
Size:
41,527 bases
Orientation:
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:
    Q9UKB3-DJC12_HUMAN
    Recommended name:
    DnaJ homolog subfamily C member 12
    Protein Accession:
    Q9UKB3
    Secondary Accessions:
    • Q5JVQ1
    • Q9UKB2

    Protein attributes for DNAJC12 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DNAJC12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DNAJC12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for DNAJC12 Gene

Function for DNAJC12 Gene

Molecular function for DNAJC12 Gene

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

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

Animal Model Products

CRISPR Products

miRNA for DNAJC12 Gene

miRTarBase miRNAs that target DNAJC12

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DNAJC12
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , 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

COMPARTMENTS
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
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DNAJC12 Gene

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

Pathways & Interactions for DNAJC12 Gene

SuperPathways for DNAJC12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DNAJC12 Gene

None

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

Unigene Clusters for DNAJC12 Gene

DnaJ (Hsp40) homolog, subfamily C, member 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DNAJC12
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
DNAJC12
ECgene alternative splicing isoforms for
DNAJC12

Expression for DNAJC12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for DNAJC12 Gene



Protein tissue co-expression partners for DNAJC12 Gene

NURSA nuclear receptor signaling pathways regulating expression of DNAJC12 Gene:

DNAJC12

SOURCE GeneReport for Unigene cluster for DNAJC12 Gene:

Hs.260720

mRNA Expression by UniProt/SwissProt for DNAJC12 Gene:

Q9UKB3-DJC12_HUMAN
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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia DNAJC12 33 34
  • 99.16 (n)
dog
(Canis familiaris)
Mammalia DNAJC12 33 34
  • 92.93 (n)
cow
(Bos Taurus)
Mammalia DNAJC12 33 34
  • 89.23 (n)
mouse
(Mus musculus)
Mammalia Dnajc12 33 16 34
  • 80.13 (n)
rat
(Rattus norvegicus)
Mammalia Dnajc12 33
  • 80.13 (n)
oppossum
(Monodelphis domestica)
Mammalia DNAJC12 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAJC12 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAJC12 33 34
  • 70.92 (n)
lizard
(Anolis carolinensis)
Reptilia DNAJC12 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493658 33
  • 63.59 (n)
zebrafish
(Danio rerio)
Actinopterygii dnajc12 33 34
  • 64.44 (n)
Dr.14456 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.937 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000970 33
  • 50.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta jdp 33 34
  • 48.98 (n)
worm
(Caenorhabditis elegans)
Secernentea K07F5.16 34
  • 32 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10333 34
  • 39 (a)
OneToOne
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

ENSEMBL:
Gene Tree for DNAJC12 (if available)
TreeFam:
Gene Tree for DNAJC12 (if available)

Paralogs for DNAJC12 Gene

Paralogs for DNAJC12 Gene

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

Pseudogenes.org Pseudogenes for DNAJC12 Gene

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

Variants for DNAJC12 Gene

Sequence variations from dbSNP and Humsavar for DNAJC12 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
VAR_078797 Hyperphenylalaninemia, mild, non-BH4-deficient (HPANBH4) [MIM:617384]
rs1000174330 -- 67,809,794(+) GATAC(A/C)CAAAA intron-variant
rs1000305839 -- 67,822,523(+) GAAGA(A/G)AGGCA intron-variant
rs1000313748 -- 67,812,535(+) TTCTG(C/T)AGAGC intron-variant
rs1000348567 -- 67,815,908(+) GAAAC(C/T)TTATC intron-variant

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)

Relevant External Links for DNAJC12 Gene

Human Gene Mutation Database (HGMD)
DNAJC12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAJC12

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

Disorders for DNAJC12 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DNAJC12 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
hyperphenylalaninemia, mild, non-bh4-deficient
  • hyperphenylalaninemia, mild and non-bh4-deficient
hyperphenylalaninemia
  • hyperphenylalaninemia, non-phenylketonuric
intellectual disability
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DJC12_HUMAN
  • 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.

Relevant External Links for DNAJC12

Genetic Association Database (GAD)
DNAJC12
Human Genome Epidemiology (HuGE) Navigator
DNAJC12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAJC12
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 60
  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 60
  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 60
  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 45 60
  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 45 60

Products for DNAJC12 Gene

Sources for DNAJC12 Gene

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