Human Gene BACH2 (ENST00000257749.9_8) from GENCODE V47lift37
  Description: BTB domain and CNC homolog 2, transcript variant 1 (from RefSeq NM_021813.4)
Gencode Transcript: ENST00000257749.9_8
Gencode Gene: ENSG00000112182.16_14
Transcript (Including UTRs)
   Position: hg19 chr6:90,636,247-91,006,562 Size: 370,316 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr6:90,642,127-90,718,563 Size: 76,437 Coding Exon Count: 4 

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 (chr6:90,636,247-91,006,562)mRNA (may differ from genome)Protein (841 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BACH2_HUMAN
DESCRIPTION: RecName: Full=Transcription regulator protein BACH2; AltName: Full=BTB and CNC homolog 2;
FUNCTION: Transcriptional regulator that acts as repressor or activator. Binds to Maf recognition elements (MARE). Play important roles in coordinating transcription activation and repression by MAFK (By similarity).
SUBUNIT: Heterodimer of BACH2 and Maf-related transcription factors (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: B-cell specific.
SIMILARITY: Belongs to the bZIP family. CNC subfamily.
SIMILARITY: Contains 1 BTB (POZ) domain.
SIMILARITY: Contains 1 bZIP (basic-leucine zipper) domain.
SEQUENCE CAUTION: Sequence=BAD92126.1; 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


-  MalaCards Disease Associations
  MalaCards Gene Search: BACH2
Diseases sorted by gene-association score: lymphoma, non-hodgkin (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: 2.39 RPKM in Spleen
Total median expression: 43.35 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 -302.70809-0.374 Picture PostScript Text
3' UTR -1624.325880-0.276 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
IPR004827 - bZIP
IPR008917 - Euk_TF_DNA-bd

Pfam Domains:
PF00170 - bZIP transcription factor
PF00651 - BTB/POZ domain
PF03131 - bZIP Maf transcription factor
PF07716 - Basic region leucine zipper

SCOP Domains:
47454 - A DNA-binding domain in eukaryotic transcription factors
54695 - POZ domain
57959 - Leucine zipper domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3OHU - X-ray MuPIT 3OHV - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9BYV9
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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:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001206 transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0004842 ubiquitin-protein transferase activity

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0016567 protein ubiquitination
GO:0051170 nuclear import

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0031463 Cul3-RING ubiquitin ligase complex


-  Descriptions from all associated GenBank mRNAs
  LP896427 - Sequence 1291 from Patent EP3253886.
AJ271878 - Homo sapiens mRNA for putative transcription factor (BACH2 gene).
AB208889 - Homo sapiens mRNA for BTB and CNC homology 1, basic leucine zipper transcription factor 2 variant protein.
AF357835 - Homo sapiens BACH2 transcription factor mRNA, complete cds.
BC166613 - Synthetic construct Homo sapiens clone IMAGE:100066339, MGC:195476 BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2) mRNA, encodes complete protein.
AB527277 - Synthetic construct DNA, clone: pF1KB3214, Homo sapiens BACH2 gene for basic leucine zipper transcription factor 2, without stop codon, in Flexi system.
AK309526 - Homo sapiens cDNA, FLJ99567.
JD313006 - Sequence 294030 from Patent EP1572962.
JD566664 - Sequence 547688 from Patent EP1572962.
JD232276 - Sequence 213300 from Patent EP1572962.
JD429092 - Sequence 410116 from Patent EP1572962.
JD538746 - Sequence 519770 from Patent EP1572962.
JD532179 - Sequence 513203 from Patent EP1572962.
JD053141 - Sequence 34165 from Patent EP1572962.
JD160673 - Sequence 141697 from Patent EP1572962.
JD466998 - Sequence 448022 from Patent EP1572962.
JD313450 - Sequence 294474 from Patent EP1572962.
JD530083 - Sequence 511107 from Patent EP1572962.
JD082479 - Sequence 63503 from Patent EP1572962.
JD357347 - Sequence 338371 from Patent EP1572962.
JD288268 - Sequence 269292 from Patent EP1572962.
AL512739 - Homo sapiens mRNA; cDNA DKFZp667E194 (from clone DKFZp667E194).
JD323823 - Sequence 304847 from Patent EP1572962.
JD079747 - Sequence 60771 from Patent EP1572962.
JD362596 - Sequence 343620 from Patent EP1572962.
JD037805 - Sequence 18829 from Patent EP1572962.
JD051836 - Sequence 32860 from Patent EP1572962.
JD263060 - Sequence 244084 from Patent EP1572962.
JD518723 - Sequence 499747 from Patent EP1572962.
JD410367 - Sequence 391391 from Patent EP1572962.
JD474339 - Sequence 455363 from Patent EP1572962.
JD485989 - Sequence 467013 from Patent EP1572962.
JD080669 - Sequence 61693 from Patent EP1572962.
JD246214 - Sequence 227238 from Patent EP1572962.
JD401876 - Sequence 382900 from Patent EP1572962.
JD195028 - Sequence 176052 from Patent EP1572962.
JD339411 - Sequence 320435 from Patent EP1572962.
JD471297 - Sequence 452321 from Patent EP1572962.
JD553964 - Sequence 534988 from Patent EP1572962.
JD314789 - Sequence 295813 from Patent EP1572962.
JD521173 - Sequence 502197 from Patent EP1572962.
JD494756 - Sequence 475780 from Patent EP1572962.
JD300420 - Sequence 281444 from Patent EP1572962.
JD403193 - Sequence 384217 from Patent EP1572962.
JD323475 - Sequence 304499 from Patent EP1572962.
JD414053 - Sequence 395077 from Patent EP1572962.
JD358640 - Sequence 339664 from Patent EP1572962.
JD245230 - Sequence 226254 from Patent EP1572962.
JD408844 - Sequence 389868 from Patent EP1572962.
JD477233 - Sequence 458257 from Patent EP1572962.
JD372214 - Sequence 353238 from Patent EP1572962.
JD039828 - Sequence 20852 from Patent EP1572962.
JD550428 - Sequence 531452 from Patent EP1572962.
JD326648 - Sequence 307672 from Patent EP1572962.
JD506512 - Sequence 487536 from Patent EP1572962.
JD513359 - Sequence 494383 from Patent EP1572962.
JD381978 - Sequence 363002 from Patent EP1572962.
JD218983 - Sequence 200007 from Patent EP1572962.
JD466494 - Sequence 447518 from Patent EP1572962.
JD095090 - Sequence 76114 from Patent EP1572962.
JD213823 - Sequence 194847 from Patent EP1572962.
JD097323 - Sequence 78347 from Patent EP1572962.
JD155041 - Sequence 136065 from Patent EP1572962.
JD566709 - Sequence 547733 from Patent EP1572962.
JD260436 - Sequence 241460 from Patent EP1572962.
JD164859 - Sequence 145883 from Patent EP1572962.
JD556056 - Sequence 537080 from Patent EP1572962.
JD124279 - Sequence 105303 from Patent EP1572962.
JD104531 - Sequence 85555 from Patent EP1572962.
JD560770 - Sequence 541794 from Patent EP1572962.
JD297919 - Sequence 278943 from Patent EP1572962.
JD166927 - Sequence 147951 from Patent EP1572962.
JD232981 - Sequence 214005 from Patent EP1572962.
JD432070 - Sequence 413094 from Patent EP1572962.
JD359293 - Sequence 340317 from Patent EP1572962.
JD204937 - Sequence 185961 from Patent EP1572962.
JD562592 - Sequence 543616 from Patent EP1572962.
JD048266 - Sequence 29290 from Patent EP1572962.
JD060911 - Sequence 41935 from Patent EP1572962.
JD501786 - Sequence 482810 from Patent EP1572962.
JD314867 - Sequence 295891 from Patent EP1572962.
JD210141 - Sequence 191165 from Patent EP1572962.
JD099608 - Sequence 80632 from Patent EP1572962.
JD317332 - Sequence 298356 from Patent EP1572962.
JD073416 - Sequence 54440 from Patent EP1572962.
JD054962 - Sequence 35986 from Patent EP1572962.
JD538605 - Sequence 519629 from Patent EP1572962.
JD097047 - Sequence 78071 from Patent EP1572962.
JD228930 - Sequence 209954 from Patent EP1572962.
JD081008 - Sequence 62032 from Patent EP1572962.
JD525878 - Sequence 506902 from Patent EP1572962.
JD288162 - Sequence 269186 from Patent EP1572962.
JD460169 - Sequence 441193 from Patent EP1572962.
JD325363 - Sequence 306387 from Patent EP1572962.
JD131126 - Sequence 112150 from Patent EP1572962.
JD321408 - Sequence 302432 from Patent EP1572962.
JD240007 - Sequence 221031 from Patent EP1572962.
HE578166 - Homo sapiens partial mRNA for BTB and CNC homology 1, basic leucine zipper transcription factor 2 (Bach2 gene), isolate PDX59 A2214G.
HE578165 - Homo sapiens partial mRNA for BTB and CNC homology 1, basic leucine zipper transcription factor 2 (Bach2 gene), isolate LAX9 C1779T.
HE578164 - Homo sapiens partial mRNA for BTB and CNC homology 1, basic leucine zipper transcription factor 2 (Bach2 gene), isolate ICN1 C1779T.
HE578167 - Homo sapiens partial mRNA for BTB and CNC homology 1, basic leucine zipper transcription factor 2 (Bach2 gene), isolate TXL2 C974T.
HE578168 - Homo sapiens partial mRNA for BTB and CNC homology 1, basic leucine zipper transcription factor 2 (Bach2 gene), isolate TXL3 C974T/C1039T.
HE578170 - Homo sapiens partial mRNA for BTB and CNC homology 1, basic leucine zipper transcription factor 2 (Bach2 gene), isolate SFO2 C1039T.
HE578172 - Homo sapiens partial mRNA for BTB and CNC homology 1, basic leucine zipper transcription factor 2 (Bach2 gene), isolate LAX9 C974T.
HE578174 - Homo sapiens partial mRNA for BTB and CNC homology 1, basic leucine zipper transcription factor 2 (Bach2 gene), isolate BLQ5 C974T.
HE578171 - Homo sapiens partial mRNA for BTB and CNC homology 1, basic leucine zipper transcription factor 2 (Bach2 gene), isolate LAX2 C974T.
HE578173 - Homo sapiens partial mRNA for BTB and CNC homology 1, basic leucine zipper transcription factor 2 (Bach2 gene), isolate BLQ1 C974T/C1039T.
HE578175 - Homo sapiens partial mRNA for BTB and CNC homology 1, basic leucine zipper transcription factor 2 (Bach2 gene), isolate BLQ11 C974T.
HE578176 - Homo sapiens partial mRNA for BTB and CNC homology 1, basic leucine zipper transcription factor 2 (Bach2 gene), isolate PDX59 C1039T.
HE578169 - Homo sapiens partial mRNA for BTB and CNC homology 1, basic leucine zipper transcription factor 2 (Bach2 gene), isolate ICN1 C974T/C1039T.
HE578163 - Homo sapiens partial mRNA for BTB and CNC homology 1, basic leucine zipper transcription factor 2 (Bach2 gene), isolate BLQ1 G938T.
JD404537 - Sequence 385561 from Patent EP1572962.
JD164339 - Sequence 145363 from Patent EP1572962.
JD104022 - Sequence 85046 from Patent EP1572962.
BC070239 - Homo sapiens cDNA clone IMAGE:30410294.
JD394239 - Sequence 375263 from Patent EP1572962.
JD149611 - Sequence 130635 from Patent EP1572962.
JD080967 - Sequence 61991 from Patent EP1572962.
JD167982 - Sequence 149006 from Patent EP1572962.
JD369275 - Sequence 350299 from Patent EP1572962.
JD057386 - Sequence 38410 from Patent EP1572962.
JD468458 - Sequence 449482 from Patent EP1572962.
JD390047 - Sequence 371071 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BACH2_HUMAN, E1P518, ENST00000257749.1, ENST00000257749.2, ENST00000257749.3, ENST00000257749.4, ENST00000257749.5, ENST00000257749.6, ENST00000257749.7, ENST00000257749.8, NM_021813, Q59H70, Q5T793, Q9BYV9, Q9NTS5, uc317fzf.1, uc317fzf.2
UCSC ID: ENST00000257749.9_8
RefSeq Accession: NM_021813.4
Protein: Q9BYV9 (aka BACH2_HUMAN or BAC2_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.