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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
  • 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 and Cone-Rod Dystrophy 2. Among its related pathways are Protein processing in endoplasmic reticulum. An important paralog of this gene is DNAJB14.

UniProtKB/Swiss-Prot 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/Hsc70s 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 , fRNAdb sequence ontologies and piRNA Summary for DNAJB12 Gene

Genomics for DNAJB12 Gene

GeneHancer (GH) Regulatory Elements for DNAJB12 Gene

Promoters and enhancers for DNAJB12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I072352 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 608 +1.0 990 3 CLOCK FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 MEF2D DNAJB12 ECD EIF4A2P2 ENSG00000227540 DNAJC9 ENSG00000272599 CHST3 RPL17P50 P4HA1 DDIT4-AS1
GH10I072270 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 80.4 +80.5 80463 8.5 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 DDIT4 DDIT4-AS1 DNAJB12 ECD ENSG00000227540 FAM149B1 RPL17P50 DNAJC9 ASCC1 ENSG00000272630
GH10I072624 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 83.7 -270.4 -270416 2.6 HDGF HNRNPUL1 PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B MICU1 DNAJB12 ECD RPL17P50 CFAP70 RN7SL840P
GH10I072241 Enhancer 2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 81.7 +105.4 105429 16.8 MLX DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 ZC3H11A GC10M072248 ECD DNAJB12 RPL17P50 ENSG00000272599 ASCC1 DDIT4 CHST3 DNAJC9 ENSG00000200170
GH10I072314 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 66.4 +35.0 35005 11.7 CLOCK MLX FEZF1 DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF143 DNAJB12 ECD DDIT4 RPL17P50 ENSG00000227540 PSAP FAM149B1 DNAJC9 ENSG00000272630 NUDT13
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DNAJB12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DNAJB12 gene promoter:

Genomic Locations for DNAJB12 Gene

Genomic Locations for DNAJB12 Gene
chr10:72,332,830-72,355,230
(GRCh38/hg38)
Size:
22,401 bases
Orientation:
Minus strand
chr10:74,092,588-74,114,988
(GRCh37/hg19)

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:
    41819 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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAH13619.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; 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

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

Protein Domains for DNAJB12 Gene

Suggested Antigen Peptide Sequences for DNAJB12 Gene

GenScript: Design optimal peptide antigens:

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/Hsc70s 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 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

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
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (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 IEA,IDA 27916661
GO:0005789 endoplasmic reticulum membrane IEA --
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

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:0036503 ERAD pathway IDA 21148293
GO:0043623 cellular protein complex assembly IDA 27916661
GO:0051085 chaperone cofactor-dependent protein refolding IDA 27916661
GO:0071218 cellular response to misfolded protein IDA 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

Unigene Clusters for DNAJB12 Gene

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

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
ECgene alternative splicing isoforms for
DNAJB12

Expression for DNAJB12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for DNAJB12 Gene



Protein tissue co-expression partners for DNAJB12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DNAJB12 Gene:

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 33 34
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia DNAJB12 33 34
  • 91.58 (n)
cow
(Bos Taurus)
Mammalia DNAJB12 33 34
  • 89.16 (n)
mouse
(Mus musculus)
Mammalia Dnajb12 33 16 34
  • 88.98 (n)
rat
(Rattus norvegicus)
Mammalia Dnajb12 33
  • 88.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DNAJB12 34
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DNAJB12 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAJB12 33 34
  • 76.74 (n)
lizard
(Anolis carolinensis)
Reptilia DNAJB12 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajb12 33
  • 69.88 (n)
Str.10798 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.22300 33
zebrafish
(Danio rerio)
Actinopterygii dnajb12a 33 34
  • 65.31 (n)
dnajb12b 34 34
  • 62 (a)
OneToMany
wufc16f06 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13337 33
fruit fly
(Drosophila melanogaster)
Insecta CG3061 35 33 34
  • 53.85 (n)
CG30156 34
  • 26 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001810 33
  • 50.99 (n)
worm
(Caenorhabditis elegans)
Secernentea dnj-1 33 34
  • 47.04 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HLJ1 34 36
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G57340 33
  • 46.69 (n)
rice
(Oryza sativa)
Liliopsida Os01g0556400 33
  • 50.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

Paralogs for DNAJB12 Gene

Paralogs for DNAJB12 Gene

Pseudogenes.org Pseudogenes for DNAJB12 Gene

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

Variants for DNAJB12 Gene

Sequence variations from dbSNP and Humsavar for DNAJB12 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000016676 -- 72,335,138(-) A/G 3_prime_UTR_variant, intron_variant
rs1000161957 -- 72,332,356(-) G/A downstream_transcript_variant
rs1000248148 -- 72,334,687(-) A/G 3_prime_UTR_variant, intron_variant
rs1000339441 -- 72,346,708(-) A/G intron_variant
rs1000487019 -- 72,337,297(-) T/C intron_variant

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

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

Disorder Aliases PubMed IDs
leber congenital amaurosis 12
  • lca12
cone-rod dystrophy 2
  • cord2
fundus dystrophy
  • retinal dystrophy
- 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 58
  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 58
  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 58
  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 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for DNAJB12 Gene

Sources for DNAJB12 Gene