Human Gene BCL7B (ENST00000223368.7_7) from GENCODE V47lift37
  Description: BAF chromatin remodeling complex subunit BCL7B, transcript variant 1 (from RefSeq NM_001707.4)
Gencode Transcript: ENST00000223368.7_7
Gencode Gene: ENSG00000106635.8_9
Transcript (Including UTRs)
   Position: hg19 chr7:72,950,686-72,972,020 Size: 21,335 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr7:72,951,628-72,971,908 Size: 20,281 Coding Exon Count: 6 

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 (chr7:72,950,686-72,972,020)mRNA (may differ from genome)Protein (202 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BCL7B_HUMAN
DESCRIPTION: RecName: Full=B-cell CLL/lymphoma 7 protein family member B; AltName: Allergen=Hom s 3;
FUNCTION: May play a role in lung tumor development or progression.
TISSUE SPECIFICITY: Ubiquitous.
DISEASE: Note=BCL7B is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of BCL7B may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
ALLERGEN: Causes an allergic reaction in human. Binds to IgE from atopic dermatitis (AD) patients. Identified as an IgE autoantigen in atopic dermatitis (AD) patients with severe skin manifestations.
SIMILARITY: Belongs to the BCL7 family.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BCL7BID779ch7q11.html";

-  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: BCL7B
Diseases sorted by gene-association score: lymphoma (11), atopic dermatitis (7), dermatitis (6), burkitt lymphoma (5), williams-beuren syndrome (4)

-  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: 37.88 RPKM in Esophagus - Muscularis
Total median expression: 1136.78 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 -71.00112-0.634 Picture PostScript Text
3' UTR -319.60942-0.339 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
IPR006804 - BCL7

Pfam Domains:
PF04714 - BCL7, N-terminal conserver region

ModBase Predicted Comparative 3D Structure on Q9BQE9
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    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005515 protein binding

Biological Process:
GO:0006915 apoptotic process
GO:0008150 biological_process
GO:0016055 Wnt signaling pathway
GO:0030154 cell differentiation

Cellular Component:
GO:0005575 cellular_component


-  Descriptions from all associated GenBank mRNAs
  AK123497 - Homo sapiens cDNA FLJ41503 fis, clone BRTHA2007603.
BC001967 - Homo sapiens B-cell CLL/lymphoma 7B, mRNA (cDNA clone MGC:5093 IMAGE:3461829), complete cds.
AJ223979 - Homo sapiens mRNA for BCL7B protein, short isoform.
X89985 - H.sapiens mRNA for BCL7B protein.
BC009548 - Homo sapiens B-cell CLL/lymphoma 7B, mRNA (cDNA clone MGC:10089 IMAGE:3897805), complete cds.
BC000956 - Homo sapiens B-cell CLL/lymphoma 7B, mRNA (cDNA clone MGC:5458 IMAGE:3450946), complete cds.
JD154220 - Sequence 135244 from Patent EP1572962.
JD493067 - Sequence 474091 from Patent EP1572962.
JD561997 - Sequence 543021 from Patent EP1572962.
JD432917 - Sequence 413941 from Patent EP1572962.
JD298941 - Sequence 279965 from Patent EP1572962.
JD126757 - Sequence 107781 from Patent EP1572962.
JD192290 - Sequence 173314 from Patent EP1572962.
JD122547 - Sequence 103571 from Patent EP1572962.
JD276383 - Sequence 257407 from Patent EP1572962.
JD251206 - Sequence 232230 from Patent EP1572962.
JD540758 - Sequence 521782 from Patent EP1572962.
JD426341 - Sequence 407365 from Patent EP1572962.
JD038055 - Sequence 19079 from Patent EP1572962.
JD436267 - Sequence 417291 from Patent EP1572962.
JD183107 - Sequence 164131 from Patent EP1572962.
JD063219 - Sequence 44243 from Patent EP1572962.
JD453916 - Sequence 434940 from Patent EP1572962.
JD264664 - Sequence 245688 from Patent EP1572962.
JD495468 - Sequence 476492 from Patent EP1572962.
JD183516 - Sequence 164540 from Patent EP1572962.
AK290091 - Homo sapiens cDNA FLJ75253 complete cds, highly similar to Homo sapiens B-cell CLL/lymphoma 7B, transcript variant 1, mRNA.
JD520676 - Sequence 501700 from Patent EP1572962.
JD398225 - Sequence 379249 from Patent EP1572962.
JD385969 - Sequence 366993 from Patent EP1572962.
DQ890556 - Synthetic construct clone IMAGE:100003186; FLH168177.01X; RZPDo839D0292D B-cell CLL/lymphoma 7B (BCL7B) gene, encodes complete protein.
CU679393 - Synthetic construct Homo sapiens gateway clone IMAGE:100018557 5' read BCL7B mRNA.
DQ893716 - Synthetic construct Homo sapiens clone IMAGE:100008176; FLH168173.01L; RZPDo839D0291D B-cell CLL/lymphoma 7B (BCL7B) gene, encodes complete protein.
HZ473901 - WO 2016002844-A/15: ANTI-INVASIVE/ANTI-METASTATIC DRUG FOR PANCREATIC CANCER CELL.
HZ473902 - WO 2016002844-A/16: ANTI-INVASIVE/ANTI-METASTATIC DRUG FOR PANCREATIC CANCER CELL.
HZ473900 - WO 2016002844-A/14: ANTI-INVASIVE/ANTI-METASTATIC DRUG FOR PANCREATIC CANCER CELL.
HZ473899 - WO 2016002844-A/13: ANTI-INVASIVE/ANTI-METASTATIC DRUG FOR PANCREATIC CANCER CELL.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K226, BCL7B_HUMAN, C9JWD3, D3DXF0, ENST00000223368.1, ENST00000223368.2, ENST00000223368.3, ENST00000223368.4, ENST00000223368.5, ENST00000223368.6, NM_001707, O43769, Q13845, Q6ZW75, Q9BQE9, uc317dhi.1, uc317dhi.2
UCSC ID: ENST00000223368.7_7
RefSeq Accession: NM_001707.4
Protein: Q9BQE9 (aka BCL7B_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.