Human Gene DNAJB12 (ENST00000444643.8_10) from GENCODE V47lift37
  Description: DnaJ heat shock protein family (Hsp40) member B12, transcript variant 5 (from RefSeq NR_157570.3)
Gencode Transcript: ENST00000444643.8_10
Gencode Gene: ENSG00000148719.16_14
Transcript (Including UTRs)
   Position: hg19 chr10:74,092,621-74,114,677 Size: 22,057 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr10:74,095,568-74,114,655 Size: 19,088 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:74,092,621-74,114,677)mRNA (may differ from genome)Protein (375 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DJB12_HUMAN
DESCRIPTION: RecName: Full=DnaJ homolog subfamily B member 12;
SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein (Potential).
SIMILARITY: Contains 1 J domain.
SEQUENCE CAUTION: Sequence=BAB15289.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAH13619.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DNAJB12
Diseases sorted by gene-association score: leber congenital amaurosis 12 (3), fundus dystrophy (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.19 RPKM in Nerve - Tibial
Total median expression: 500.32 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.7022-0.214 Picture PostScript Text
3' UTR -606.501785-0.340 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001623 - DnaJ_N
IPR015399 - DUF1977_DnaJ-like
IPR018253 - Heat_shock_DnaJ_CS
IPR003095 - Hsp_DnaJ

Pfam Domains:
PF00226 - DnaJ domain
PF09320 - Domain of unknown function (DUF1977)

SCOP Domains:
48452 - TPR-like
68912 - Rho N-terminal domain-like
46565 - Chaperone J-domain
117782 - YbjQ-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2CTP - NMR


ModBase Predicted Comparative 3D Structure on Q9NXW2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0030544 Hsp70 protein binding

Biological Process:
GO:0034622 cellular macromolecular complex assembly
GO:0036503 ERAD pathway
GO:0051085 chaperone mediated protein folding requiring cofactor
GO:0071218 cellular response to misfolded protein

Cellular Component:
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0031965 nuclear membrane


-  Descriptions from all associated GenBank mRNAs
  AL833358 - Homo sapiens mRNA; cDNA DKFZp667D0214 (from clone DKFZp667D0214).
JD206895 - Sequence 187919 from Patent EP1572962.
JD130015 - Sequence 111039 from Patent EP1572962.
JD513220 - Sequence 494244 from Patent EP1572962.
JD150598 - Sequence 131622 from Patent EP1572962.
JD108587 - Sequence 89611 from Patent EP1572962.
JD552771 - Sequence 533795 from Patent EP1572962.
JD137386 - Sequence 118410 from Patent EP1572962.
JD248585 - Sequence 229609 from Patent EP1572962.
JD180439 - Sequence 161463 from Patent EP1572962.
JD442459 - Sequence 423483 from Patent EP1572962.
JD540378 - Sequence 521402 from Patent EP1572962.
JD434398 - Sequence 415422 from Patent EP1572962.
BC064920 - Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 12, mRNA (cDNA clone MGC:74986 IMAGE:6092812), complete cds.
JD275595 - Sequence 256619 from Patent EP1572962.
JD132575 - Sequence 113599 from Patent EP1572962.
JD099617 - Sequence 80641 from Patent EP1572962.
JD177629 - Sequence 158653 from Patent EP1572962.
JD131425 - Sequence 112449 from Patent EP1572962.
JD519304 - Sequence 500328 from Patent EP1572962.
BC011812 - Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 12, mRNA (cDNA clone IMAGE:3051349), partial cds.
AK123129 - Homo sapiens cDNA FLJ41134 fis, clone BRACE2027970.
AK302071 - Homo sapiens cDNA FLJ56380 complete cds, highly similar to DnaJ homolog subfamily B member 12.
AL050381 - Homo sapiens mRNA; cDNA DKFZp586B2023 (from clone DKFZp586B2023).
AK027259 - Homo sapiens cDNA: FLJ23606 fis, clone LNG16001.
AK225051 - Homo sapiens mRNA for DnaJ homolog subfamily B member 12 variant, clone: adSE01901.
AK000034 - Homo sapiens cDNA FLJ20027 fis, clone ADSE01901.
AK025942 - Homo sapiens cDNA: FLJ22289 fis, clone HRC04173.
JD359795 - Sequence 340819 from Patent EP1572962.
KJ902687 - Synthetic construct Homo sapiens clone ccsbBroadEn_12081 DNAJB12 gene, encodes complete protein.
HQ448131 - Synthetic construct Homo sapiens clone IMAGE:100071514; CCSB012287_01 DnaJ (Hsp40) homolog, subfamily B, member 12 (DNAJB12) gene, encodes complete protein.
KJ902688 - Synthetic construct Homo sapiens clone ccsbBroadEn_12082 DNAJB12 gene, encodes complete protein.
CU687966 - Synthetic construct Homo sapiens gateway clone IMAGE:100021718 5' read DNAJB12 mRNA.

-  Other Names for This Gene
  Alternate Gene Symbols: B7Z7I3, DJB12_HUMAN, DNAJB12 , ENST00000444643.1, ENST00000444643.2, ENST00000444643.3, ENST00000444643.4, ENST00000444643.5, ENST00000444643.6, ENST00000444643.7, NR_157570, Q9H6H0, Q9NXW2, uc320mmo.1, uc320mmo.2
UCSC ID: ENST00000444643.8_10
RefSeq Accession: NM_017626.7
Protein: Q9NXW2 (aka DJB12_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.