Human Gene ZBTB40 (ENST00000375647.5_7) from GENCODE V47lift37
  Description: zinc finger and BTB domain containing 40, transcript variant 2 (from RefSeq NM_014870.4)
Gencode Transcript: ENST00000375647.5_7
Gencode Gene: ENSG00000184677.18_18
Transcript (Including UTRs)
   Position: hg19 chr1:22,778,344-22,857,647 Size: 79,304 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg19 chr1:22,816,442-22,852,889 Size: 36,448 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:22,778,344-22,857,647)mRNA (may differ from genome)Protein (1239 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ZBT40_HUMAN
DESCRIPTION: RecName: Full=Zinc finger and BTB domain-containing protein 40;
FUNCTION: May be involved in transcriptional regulation.
SUBCELLULAR LOCATION: Nucleus (Potential).
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family.
SIMILARITY: Contains 1 BTB (POZ) domain.
SIMILARITY: Contains 12 C2H2-type zinc fingers.
SEQUENCE CAUTION: Sequence=BAA32323.2; Type=Erroneous initiation;

-  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


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 14.22 RPKM in Spleen
Total median expression: 329.44 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 -75.30223-0.338 Picture PostScript Text
3' UTR -1710.404758-0.359 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
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR013069 - BTB_POZ
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type
PF00651 - BTB/POZ domain
PF12874 - Zinc-finger of C2H2 type
PF13913 - zinc-finger of a C2HC-type

SCOP Domains:
54695 - POZ domain
54909 - Dimeric alpha+beta barrel
57667 - beta-beta-alpha zinc fingers

ModBase Predicted Comparative 3D Structure on Q9NUA8
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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    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003674 molecular_function
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006974 cellular response to DNA damage stimulus
GO:0030282 bone mineralization

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  AK091019 - Homo sapiens cDNA FLJ33700 fis, clone BRAWH2005074, highly similar to Zinc finger and BTB domain-containing protein 40.
AX746732 - Sequence 257 from Patent EP1308459.
AK095273 - Homo sapiens cDNA FLJ37954 fis, clone CTONG2009270, weakly similar to Mus musculus transcriptional repressor RP58 (rp58) mRNA.
AB007947 - Homo sapiens KIAA0478 mRNA for KIAA0478 protein.
BC114607 - Homo sapiens zinc finger and BTB domain containing 40, mRNA (cDNA clone MGC:133098 IMAGE:40027579), complete cds.
DQ598846 - Homo sapiens piRNA piR-36912, complete sequence.
AB383892 - Synthetic construct DNA, clone: pF1KSDA0478, Homo sapiens ZBTB40 gene for zinc finger and BTB domain-containing protein 40, complete cds, without stop codon, in Flexi system.
AK314747 - Homo sapiens cDNA, FLJ95610, Homo sapiens KIAA0478 gene product (KIAA0478), mRNA.
JD496284 - Sequence 477308 from Patent EP1572962.
JD165357 - Sequence 146381 from Patent EP1572962.
JD267715 - Sequence 248739 from Patent EP1572962.
JD532051 - Sequence 513075 from Patent EP1572962.
JD377088 - Sequence 358112 from Patent EP1572962.
JD046354 - Sequence 27378 from Patent EP1572962.
JD221414 - Sequence 202438 from Patent EP1572962.
JD191727 - Sequence 172751 from Patent EP1572962.
JD544666 - Sequence 525690 from Patent EP1572962.
JD389428 - Sequence 370452 from Patent EP1572962.
JD212122 - Sequence 193146 from Patent EP1572962.
JD338331 - Sequence 319355 from Patent EP1572962.
JD197194 - Sequence 178218 from Patent EP1572962.
JD377110 - Sequence 358134 from Patent EP1572962.
JD237907 - Sequence 218931 from Patent EP1572962.
JD047057 - Sequence 28081 from Patent EP1572962.
JD361054 - Sequence 342078 from Patent EP1572962.
JD400842 - Sequence 381866 from Patent EP1572962.
JD369990 - Sequence 351014 from Patent EP1572962.
JD104930 - Sequence 85954 from Patent EP1572962.
JD270972 - Sequence 251996 from Patent EP1572962.
JD416755 - Sequence 397779 from Patent EP1572962.
JD423021 - Sequence 404045 from Patent EP1572962.
JD296307 - Sequence 277331 from Patent EP1572962.
JD560282 - Sequence 541306 from Patent EP1572962.
JD282635 - Sequence 263659 from Patent EP1572962.
JD279702 - Sequence 260726 from Patent EP1572962.
JD447845 - Sequence 428869 from Patent EP1572962.
JD176224 - Sequence 157248 from Patent EP1572962.
JD492241 - Sequence 473265 from Patent EP1572962.
JD106722 - Sequence 87746 from Patent EP1572962.
JD071609 - Sequence 52633 from Patent EP1572962.
JD460760 - Sequence 441784 from Patent EP1572962.
JD142178 - Sequence 123202 from Patent EP1572962.
JD209401 - Sequence 190425 from Patent EP1572962.
JD504696 - Sequence 485720 from Patent EP1572962.
DQ590006 - Homo sapiens piRNA piR-57118, complete sequence.
JD363958 - Sequence 344982 from Patent EP1572962.
JD381077 - Sequence 362101 from Patent EP1572962.
JD300043 - Sequence 281067 from Patent EP1572962.
JD555305 - Sequence 536329 from Patent EP1572962.
JD260740 - Sequence 241764 from Patent EP1572962.
JD474119 - Sequence 455143 from Patent EP1572962.
JD394264 - Sequence 375288 from Patent EP1572962.
JD448417 - Sequence 429441 from Patent EP1572962.
JD207065 - Sequence 188089 from Patent EP1572962.
JD049669 - Sequence 30693 from Patent EP1572962.
JD427505 - Sequence 408529 from Patent EP1572962.
JD498378 - Sequence 479402 from Patent EP1572962.
JD277483 - Sequence 258507 from Patent EP1572962.
JD482373 - Sequence 463397 from Patent EP1572962.
JD361262 - Sequence 342286 from Patent EP1572962.
JD309554 - Sequence 290578 from Patent EP1572962.
JD494554 - Sequence 475578 from Patent EP1572962.
JD198304 - Sequence 179328 from Patent EP1572962.
JD152943 - Sequence 133967 from Patent EP1572962.
JD160732 - Sequence 141756 from Patent EP1572962.
JD160733 - Sequence 141757 from Patent EP1572962.
JD281387 - Sequence 262411 from Patent EP1572962.
JD491968 - Sequence 472992 from Patent EP1572962.
JD262099 - Sequence 243123 from Patent EP1572962.
JD165254 - Sequence 146278 from Patent EP1572962.
JD560968 - Sequence 541992 from Patent EP1572962.
JD213147 - Sequence 194171 from Patent EP1572962.
JD195757 - Sequence 176781 from Patent EP1572962.
JD056960 - Sequence 37984 from Patent EP1572962.
JD098561 - Sequence 79585 from Patent EP1572962.
JD107504 - Sequence 88528 from Patent EP1572962.
JD565998 - Sequence 547022 from Patent EP1572962.
JD295413 - Sequence 276437 from Patent EP1572962.
JD330785 - Sequence 311809 from Patent EP1572962.
JD441213 - Sequence 422237 from Patent EP1572962.
JD064077 - Sequence 45101 from Patent EP1572962.
JD466890 - Sequence 447914 from Patent EP1572962.
JD421224 - Sequence 402248 from Patent EP1572962.
JD337416 - Sequence 318440 from Patent EP1572962.
JD311616 - Sequence 292640 from Patent EP1572962.
JD103140 - Sequence 84164 from Patent EP1572962.
JD298503 - Sequence 279527 from Patent EP1572962.
JD219581 - Sequence 200605 from Patent EP1572962.
JD223365 - Sequence 204389 from Patent EP1572962.
JD178456 - Sequence 159480 from Patent EP1572962.
JD375081 - Sequence 356105 from Patent EP1572962.
JD248466 - Sequence 229490 from Patent EP1572962.
JD486051 - Sequence 467075 from Patent EP1572962.
JD218798 - Sequence 199822 from Patent EP1572962.
JD105202 - Sequence 86226 from Patent EP1572962.
JD508091 - Sequence 489115 from Patent EP1572962.
JD518646 - Sequence 499670 from Patent EP1572962.
JD296650 - Sequence 277674 from Patent EP1572962.
JD216724 - Sequence 197748 from Patent EP1572962.
JD173751 - Sequence 154775 from Patent EP1572962.
JD181158 - Sequence 162182 from Patent EP1572962.
JD489479 - Sequence 470503 from Patent EP1572962.
JD539893 - Sequence 520917 from Patent EP1572962.
JD415737 - Sequence 396761 from Patent EP1572962.
JD387552 - Sequence 368576 from Patent EP1572962.
JD182042 - Sequence 163066 from Patent EP1572962.
JD078372 - Sequence 59396 from Patent EP1572962.
JD236814 - Sequence 217838 from Patent EP1572962.
JD459621 - Sequence 440645 from Patent EP1572962.
JD130962 - Sequence 111986 from Patent EP1572962.
JD298007 - Sequence 279031 from Patent EP1572962.
JD400264 - Sequence 381288 from Patent EP1572962.
JD089271 - Sequence 70295 from Patent EP1572962.
JD267963 - Sequence 248987 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000375647.1, ENST00000375647.2, ENST00000375647.3, ENST00000375647.4, KIAA0478, NM_014870, O75066, Q5TFU5, Q8N1R1, Q9NUA8, uc318mkn.1, uc318mkn.2, ZBT40_HUMAN
UCSC ID: ENST00000375647.5_7
RefSeq Accession: NM_014870.4
Protein: Q9NUA8 (aka ZBT40_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.