DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finge... See more...

Aliases for DNAJB12 Gene

Aliases for DNAJB12 Gene

  • DnaJ Heat Shock Protein Family (Hsp40) Member B12 2 3 5
  • DnaJ (Hsp40) Homolog, Subfamily B, Member 12 2 3
  • DnaJ Homolog Subfamily B Member 12 3 4
  • DJ10 3

External Ids for DNAJB12 Gene

Previous GeneCards Identifiers for DNAJB12 Gene

  • GC10M072872
  • GC10M073196
  • GC10M073986
  • GC10M073438
  • GC10M073762
  • GC10M074092
  • GC10M068086

Summaries for DNAJB12 Gene

Entrez Gene Summary for DNAJB12 Gene

  • DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]

GeneCards Summary for DNAJB12 Gene

DNAJB12 (DnaJ Heat Shock Protein Family (Hsp40) Member B12) is a Protein Coding gene. Diseases associated with DNAJB12 include Leber Congenital Amaurosis 12. Among its related pathways are Protein processing in endoplasmic reticulum. An important paralog of this gene is DNAJB14.

UniProtKB/Swiss-Prot Summary for DNAJB12 Gene

  • 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).
  • (Microbial infection) In case of infection by polyomavirus, involved in the virus endoplasmic reticulum membrane penetration and infection (PubMed:21673190, PubMed:24675744).

Additional gene information for DNAJB12 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAJB12 Gene

Genomics for DNAJB12 Gene

GeneHancer (GH) Regulatory Elements for DNAJB12 Gene

Promoters and enhancers for DNAJB12 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNAJB12 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNAJB12

Top Transcription factor binding sites by QIAGEN in the DNAJB12 gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • Egr-4
  • GATA-1
  • HNF-4alpha1
  • HOXA5
  • MZF-1
  • POU2F1
  • POU2F1a

Genomic Locations for DNAJB12 Gene

Genomic Locations for DNAJB12 Gene
chr10:72,332,830-72,355,149
(GRCh38/hg38)
Size:
22,320 bases
Orientation:
Minus strand
chr10:74,092,588-74,114,988
(GRCh37/hg19)
Size:
22,401 bases
Orientation:
Minus strand

Genomic View for DNAJB12 Gene

Genes around DNAJB12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAJB12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAJB12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAJB12 Gene

Proteins for DNAJB12 Gene

  • Protein details for DNAJB12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NXW2-DJB12_HUMAN
    Recommended name:
    DnaJ homolog subfamily B member 12
    Protein Accession:
    Q9NXW2
    Secondary Accessions:
    • B7Z7I3
    • Q9H6H0

    Protein attributes for DNAJB12 Gene

    Size:
    375 amino acids
    Molecular mass:
    41860 Da
    Quaternary structure:
    • Homodimer and homotetramer (PubMed:27916661). Interacts (via J domain) with HSPA8/Hsc70 (PubMed:21150129, PubMed:21148293, PubMed:24732912, PubMed:27916661). Forms a multiprotein complex, at least composed of DNAJB12, DNAJB14, HSPA8/Hsc70 and SGTA; interaction with DNAJB14 and HSPA8/Hsc70 is direct (PubMed:24675744).
    SequenceCaution:
    • Sequence=BAB15289.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAH13619.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DNAJB12 Gene

    Alternative splice isoforms for DNAJB12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAJB12 Gene

Post-translational modifications for DNAJB12 Gene

  • Ubiquitination at Lys141
  • Modification sites at PhosphoSitePlus

Other Protein References for DNAJB12 Gene

No data available for DME Specific Peptides for DNAJB12 Gene

Domains & Families for DNAJB12 Gene

Gene Families for DNAJB12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for DNAJB12 Gene

Suggested Antigen Peptide Sequences for DNAJB12 Gene

GenScript: Design optimal peptide antigens:
  • DnaJ homolog subfamily B member 12 (DJB12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NXW2

UniProtKB/Swiss-Prot:

DJB12_HUMAN :
  • Belongs to the DnaJ family. DNAJB12/DNAJB14 subfamily.
Family:
  • Belongs to the DnaJ family. DNAJB12/DNAJB14 subfamily.
genes like me logo Genes that share domains with DNAJB12: view

Function for DNAJB12 Gene

Molecular function for DNAJB12 Gene

UniProtKB/Swiss-Prot 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).
UniProtKB/Swiss-Prot Function:
(Microbial infection) In case of infection by polyomavirus, involved in the virus endoplasmic reticulum membrane penetration and infection (PubMed:21673190, PubMed:24675744).

Phenotypes From GWAS Catalog for DNAJB12 Gene

Gene Ontology (GO) - Molecular Function for DNAJB12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030544 Hsp70 protein binding IBA,IPI 21148293
genes like me logo Genes that share ontologies with DNAJB12: view
genes like me logo Genes that share phenotypes with DNAJB12: view

Animal Models for DNAJB12 Gene

MGI Knock Outs for DNAJB12:

Animal Model Products

CRISPR Products

miRNA for DNAJB12 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DNAJB12 Gene

Localization for DNAJB12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAJB12 Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Nucleus membrane; Single-pass membrane protein. Note=Localizes to the endoplasmic reticulum membrane (PubMed:21150129, PubMed:21148293, PubMed:24732912, PubMed:27916661). When overexpressed, forms membranous structures in the nucleus (PubMed:24732912). {ECO:0000269 PubMed:21148293, ECO:0000269 PubMed:21150129, ECO:0000269 PubMed:24732912, ECO:0000269 PubMed:27916661}.

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 DNAJB12 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 4
mitochondrion 2
cytosol 2
plasma membrane 1
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1
extracellular 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
  • Nuclear membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DNAJB12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,IEA 27916661
GO:0005789 endoplasmic reticulum membrane IBA 21873635
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane IDA 21148293
genes like me logo Genes that share ontologies with DNAJB12: view

Pathways & Interactions for DNAJB12 Gene

PathCards logo

SuperPathways for DNAJB12 Gene

genes like me logo Genes that share pathways with DNAJB12: view

Pathways by source for DNAJB12 Gene

1 KEGG pathway for DNAJB12 Gene

Gene Ontology (GO) - Biological Process for DNAJB12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030433 ubiquitin-dependent ERAD pathway IBA 21873635
GO:0034622 cellular protein-containing complex assembly IDA 27916661
GO:0036503 ERAD pathway IDA 21148293
GO:0051085 chaperone cofactor-dependent protein refolding IDA 27916661
GO:0071218 cellular response to misfolded protein IDA,IBA 21148293
genes like me logo Genes that share ontologies with DNAJB12: view

No data available for SIGNOR curated interactions for DNAJB12 Gene

Drugs & Compounds for DNAJB12 Gene

No Compound Related Data Available

Transcripts for DNAJB12 Gene

mRNA/cDNA for DNAJB12 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
6 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 DNAJB12 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11a · 11b
SP1: - - - - -
SP2: - - - - - -
SP3: - -
SP4: - - - -
SP5: -
SP6: -
SP7:

Relevant External Links for DNAJB12 Gene

GeneLoc Exon Structure for
DNAJB12

Expression for DNAJB12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNAJB12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DNAJB12 Gene

This gene is overexpressed in Bone (25.4), Breast (16.9), and Lung (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DNAJB12 Gene



Protein tissue co-expression partners for DNAJB12 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNAJB12

SOURCE GeneReport for Unigene cluster for DNAJB12 Gene:

Hs.500013

Evidence on tissue expression from TISSUES for DNAJB12 Gene

  • Kidney(4.3)
  • Intestine(4.2)
  • Pancreas(4.2)
  • Nervous system(3.9)
genes like me logo Genes that share expression patterns with DNAJB12: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAJB12 Gene

Orthologs for DNAJB12 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DNAJB12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNAJB12 31 30
  • 99.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DNAJB12 31 30
  • 91.58 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DNAJB12 31 30
  • 89.16 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dnajb12 17 31 30
  • 88.98 (n)
rat
(Rattus norvegicus)
Mammalia Dnajb12 30
  • 88.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DNAJB12 31
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DNAJB12 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAJB12 31 30
  • 76.74 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNAJB12 31
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajb12 30
  • 69.88 (n)
Str.10798 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.22300 30
zebrafish
(Danio rerio)
Actinopterygii dnajb12b 31 31
  • 67 (a)
OneToMany
dnajb12a 31 30
  • 65.31 (n)
OneToMany
wufc16f06 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13337 30
fruit fly
(Drosophila melanogaster)
Insecta CG3061 31 32 30
  • 53.85 (n)
ManyToMany
CG30156 31
  • 26 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001810 30
  • 50.99 (n)
worm
(Caenorhabditis elegans)
Secernentea dnj-1 31 30
  • 47.04 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HLJ1 33 31
  • 24 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G57340 30
  • 46.69 (n)
rice
(Oryza sativa)
Liliopsida Os01g0556400 30
  • 50.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToMany
Species where no ortholog for DNAJB12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DNAJB12 Gene

ENSEMBL:
Gene Tree for DNAJB12 (if available)
TreeFam:
Gene Tree for DNAJB12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNAJB12: view image

Paralogs for DNAJB12 Gene

(15) SIMAP similar genes for DNAJB12 Gene using alignment to 4 proteins:

  • DJB12_HUMAN
  • J3KPS0_HUMAN
  • V9GY70_HUMAN
  • V9GYN7_HUMAN

Pseudogenes.org Pseudogenes for DNAJB12 Gene

genes like me logo Genes that share paralogs with DNAJB12: view

Variants for DNAJB12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNAJB12 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs3750784 - p.Glu304Lys

Additional dbSNP identifiers (rs#s) for DNAJB12 Gene

Variation tolerance for DNAJB12 Gene

Residual Variation Intolerance Score: 37.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.42; 42.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNAJB12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAJB12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DNAJB12 Gene

Disorders for DNAJB12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DNAJB12 Gene - From: DISEASES

Disorder Aliases PubMed IDs
leber congenital amaurosis 12
  • lca12
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DNAJB12

genes like me logo Genes that share disorders with DNAJB12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DNAJB12 Gene

Publications for DNAJB12 Gene

  1. Tetrameric Assembly of K+ Channels Requires ER-Located Chaperone Proteins. (PMID: 27916661) Li K … Cai SQ (Molecular cell 2017) 3 4 54
  2. Expression of DNAJB12 or DNAJB14 causes coordinate invasion of the nucleus by membranes associated with a novel nuclear pore structure. (PMID: 24732912) Goodwin EC … DiMaio D (PloS one 2014) 3 4 54
  3. The endoplasmic reticulum-associated Hsp40 DNAJB12 and Hsc70 cooperate to facilitate RMA1 E3-dependent degradation of nascent CFTRDeltaF508. (PMID: 21148293) Grove DE … Cyr DM (Molecular biology of the cell 2011) 3 4 54
  4. A novel ER J-protein DNAJB12 accelerates ER-associated degradation of membrane proteins including CFTR. (PMID: 21150129) Yamamoto YH … Kohno K (Cell structure and function 2010) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for DNAJB12 Gene