Human Gene BBX (ENST00000325805.13_7) from GENCODE V47lift37
  Description: BBX high mobility group box domain containing, transcript variant 1 (from RefSeq NM_001142568.3)
Gencode Transcript: ENST00000325805.13_7
Gencode Gene: ENSG00000114439.19_18
Transcript (Including UTRs)
   Position: hg19 chr3:107,241,809-107,530,186 Size: 288,378 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg19 chr3:107,429,308-107,524,304 Size: 94,997 Coding Exon Count: 15 

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 (chr3:107,241,809-107,530,186)mRNA (may differ from genome)Protein (941 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BBX_HUMAN
DESCRIPTION: RecName: Full=HMG box transcription factor BBX; AltName: Full=Bobby sox homolog; AltName: Full=HMG box-containing protein 2;
FUNCTION: Transcription factor that is necessary for cell cycle progression from G1 to S phase.
SUBCELLULAR LOCATION: Nucleus (Probable).
SIMILARITY: Contains 1 HMG box DNA-binding domain.
SEQUENCE CAUTION: Sequence=AAI10904.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;

-  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: BBX
Diseases sorted by gene-association score: diabetes mellitus, insulin-dependent, 3 (3), diabetes mellitus, insulin-dependent, 5 (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: 19.90 RPKM in Testis
Total median expression: 284.70 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 -92.20301-0.306 Picture PostScript Text
3' UTR -1460.305882-0.248 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
IPR009071 - HMG_superfamily
IPR019102 - TF_HMG_box_BBX_DUF2028

Pfam Domains:
PF00505 - HMG (high mobility group) box
PF09011 - HMG-box domain
PF09667 - Domain of unknown function (DUF2028)

SCOP Domains:
47095 - HMG-box

ModBase Predicted Comparative 3D Structure on Q8WY36
FrontTopSide
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    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA 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:0060348 bone development

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AF283775 - Homo sapiens clone TCBAP1028 mRNA sequence.
AF454941 - Homo sapiens HMG-box transcription factor BBX (BBX) mRNA, complete cds, alternatively spliced.
AF161457 - Homo sapiens HSPC339 mRNA, partial cds.
AK314434 - Homo sapiens cDNA, FLJ95231.
AK057010 - Homo sapiens cDNA FLJ32448 fis, clone SKMUS2001634, weakly similar to HIGH MOBILITY GROUP PROTEIN HMG2.
AK291757 - Homo sapiens cDNA FLJ78675 complete cds, highly similar to Homo sapiens stroma HMG-box containing protein (HBP2) mRNA.
AF276949 - Homo sapiens melanocyte HMG-box containing protein (HBP2) mRNA, partial cds.
BC131718 - Homo sapiens bobby sox homolog (Drosophila), mRNA (cDNA clone MGC:150613 IMAGE:40123389), complete cds.
AL136769 - Homo sapiens mRNA; cDNA DKFZp434I1116 (from clone DKFZp434I1116).
AF454942 - Homo sapiens HMG-box transcription factor BBXa (BBX) mRNA, complete cds, alternatively spliced.
AK307668 - Homo sapiens cDNA, FLJ97616.
BC110903 - Homo sapiens bobby sox homolog (Drosophila), mRNA (cDNA clone IMAGE:6151073), partial cds.
AF276948 - Homo sapiens stroma HMG-box containing protein (HBP2) mRNA, complete cds.
EU832360 - Synthetic construct Homo sapiens clone HAIB:100067389; DKFZo004A0228 bobby sox homolog (Drosophila) protein (BBX) gene, encodes complete protein.
EU832275 - Synthetic construct Homo sapiens clone HAIB:100067304; DKFZo008A0227 bobby sox homolog (Drosophila) protein (BBX) gene, encodes complete protein.
KJ902927 - Synthetic construct Homo sapiens clone ccsbBroadEn_12321 BBX gene, encodes complete protein.
JD068946 - Sequence 49970 from Patent EP1572962.
JD104035 - Sequence 85059 from Patent EP1572962.
JD554652 - Sequence 535676 from Patent EP1572962.
JD197274 - Sequence 178298 from Patent EP1572962.
JD469481 - Sequence 450505 from Patent EP1572962.
BC012837 - Homo sapiens bobby sox homolog (Drosophila), mRNA (cDNA clone IMAGE:3857955), partial cds.
AK026082 - Homo sapiens cDNA: FLJ22429 fis, clone HRC09084.
AK130627 - Homo sapiens cDNA FLJ27117 fis, clone SPL06311.
AL834307 - Homo sapiens mRNA; cDNA DKFZp434B1713 (from clone DKFZp434B1713).
AK025944 - Homo sapiens cDNA: FLJ22291 fis, clone HRC04410.
AF168718 - Homo sapiens x 001 protein mRNA, complete cds.
JD455825 - Sequence 436849 from Patent EP1572962.
JD109836 - Sequence 90860 from Patent EP1572962.
JD247969 - Sequence 228993 from Patent EP1572962.
JD071173 - Sequence 52197 from Patent EP1572962.
JD356865 - Sequence 337889 from Patent EP1572962.
JD092666 - Sequence 73690 from Patent EP1572962.
JD340420 - Sequence 321444 from Patent EP1572962.
JD362642 - Sequence 343666 from Patent EP1572962.
JD259791 - Sequence 240815 from Patent EP1572962.
JD265485 - Sequence 246509 from Patent EP1572962.
JD235252 - Sequence 216276 from Patent EP1572962.
AY527413 - Homo sapiens ARTC1 mRNA, complete sequence.
JD353874 - Sequence 334898 from Patent EP1572962.
JD207276 - Sequence 188300 from Patent EP1572962.
JD119998 - Sequence 101022 from Patent EP1572962.
JD565023 - Sequence 546047 from Patent EP1572962.
JD078198 - Sequence 59222 from Patent EP1572962.
JD046892 - Sequence 27916 from Patent EP1572962.
JD449503 - Sequence 430527 from Patent EP1572962.
JD553675 - Sequence 534699 from Patent EP1572962.
JD557743 - Sequence 538767 from Patent EP1572962.
JD530378 - Sequence 511402 from Patent EP1572962.
JD562411 - Sequence 543435 from Patent EP1572962.
JD551131 - Sequence 532155 from Patent EP1572962.
JD314269 - Sequence 295293 from Patent EP1572962.
JD539081 - Sequence 520105 from Patent EP1572962.
AF052174 - Homo sapiens clone 24630 mRNA sequence.
JD307760 - Sequence 288784 from Patent EP1572962.
JD351951 - Sequence 332975 from Patent EP1572962.
JD471593 - Sequence 452617 from Patent EP1572962.
JD377017 - Sequence 358041 from Patent EP1572962.
JD324078 - Sequence 305102 from Patent EP1572962.
JD314035 - Sequence 295059 from Patent EP1572962.
JD174560 - Sequence 155584 from Patent EP1572962.
JD313697 - Sequence 294721 from Patent EP1572962.
JD504088 - Sequence 485112 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A2RRM7, BBX_HUMAN, ENST00000325805.1, ENST00000325805.10, ENST00000325805.11, ENST00000325805.12, ENST00000325805.2, ENST00000325805.3, ENST00000325805.4, ENST00000325805.5, ENST00000325805.6, ENST00000325805.7, ENST00000325805.8, ENST00000325805.9, HBP2, NM_001142568, Q2TAJ1, Q7L3J8, Q7LBY8, Q8NDB0, Q8WY35, Q8WY36, Q9H0J6, uc317rxw.1, uc317rxw.2
UCSC ID: ENST00000325805.13_7
RefSeq Accession: NM_001142568.3
Protein: Q8WY36 (aka BBX_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.