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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BCL7A Gene

protein-coding   GIFtS: 56
GCID: GC12P122459

B-Cell CLL/Lymphoma 7A


(Previous symbol: BCL7)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
B-Cell CLL/Lymphoma 7A1 2
BCL71 2 5
B-Cell CLL/Lymphoma 7 Protein Family Member A2
B-Cell CLL/Lymphoma-72

External Ids:    HGNC: 10041   Entrez Gene: 6052   Ensembl: ENSG000001109877   OMIM: 6014065   UniProtKB: Q4VC053   

Export aliases for BCL7A gene to outside databases

Previous GC identifers: GC12M120913 GC12P121880 GC12P122228 GC12P120857 GC12P120921 GC12P119470


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BCL7A Gene:
This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell
line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is
thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal
segment involved in the translocation includes the region that shares a strong sequence similarity with those of
BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene. (provided by
RefSeq, Jul 2008)

GeneCards Summary for BCL7A Gene: 
BCL7A (B-cell CLL/lymphoma 7A) is a protein-coding gene. Diseases associated with BCL7A include juvenile astrocytoma, and non-hodgkin lymphoma. GO annotations related to this gene include molecular_function. An important paralog of this gene is BCL7B.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_009775.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BCL7A gene promoter:
         Pax-5   MIF-1   E47   GATA-2   PPAR-alpha   Pax-3   c-Myb   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBCL7A promoter sequence
   Search SABiosciences Chromatin IP Primers for BCL7A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BCL7A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.13   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24.1

BCL7A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCL7A gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P122459:  view genomic region     (about GC identifiers)

Start:
122,457,328 bp from pter      End:
122,499,950 bp from pter
Size:
42,623 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BCL7A_HUMAN, Q4VC05 (See protein sequence)
Recommended Name: B-cell CLL/lymphoma 7 protein family member A  
Size: 210 amino acids; 22810 Da
Secondary accessions: B4DJN6 B7ZB21 Q13843 Q14CT7
Alternative splicing: 2 isoforms:  Q4VC05-1   Q4VC05-2   

Explore the universe of human proteins at neXtProt for BCL7A: NX_Q4VC05

Explore proteomics data for BCL7A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q4VC05

  • BCL7A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BCL7A Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001019979.1  NP_066273.1  

    ENSEMBL proteins: 
     ENSP00000445868   ENSP00000261822  

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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    BCL7A for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR006804 BCL7

    Graphical View of Domain Structure for InterPro Entry Q4VC05

    ProtoNet protein and cluster: Q4VC05

    UniProtKB/Swiss-Prot: BCL7A_HUMAN, Q4VC05
    Similarity: Belongs to the BCL7 family


    BCL7A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:
         Genatlas biochemistry entry for BCL7A:
    putative F-actin cross-linking protein 12,homolog to caldesmon,involved with MYC and IGH in a Burkitt lymphoma
    cell line with complex translocation t(9;14;12)(q24.1;q32.3;q24.1)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    BCL7A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BCL7A:
     Increased gamma-H2AX phosphory 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidBCL7A 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BCL7A

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for BCL7A (Q4VC052, 3 ENSP000002618224) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RELBQ012012, 3MINT-48013 MINT-49003 I2D: score=5 
    SMARCA2P515313, ENSP000002657734I2D: score=2 STRING: ENSP00000265773
    SMARCA4P515323, ENSP000003507204I2D: score=2 STRING: ENSP00000350720
    WHSC1L1ENSP000003139834STRING: ENSP00000313983
    CBX5ENSP000002098754STRING: ENSP00000209875
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0045892negative regulation of transcription, DNA-dependent NAS15897551

    BCL7A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BCL7A

    Search CenterWatch for drugs/clinical trials and news about BCL7A

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BCL7A gene (2 alternative transcripts): 
    NM_001024808.1  NM_020993.3  

    Unigene Cluster for BCL7A:

    B-cell CLL/lymphoma 7A
    Hs.530970  [show with all ESTs]
    Unigene Representative Sequence: X89984
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000538010(uc001ubo.3 uc001ubp.3) ENST00000261822 ENST00000432926

    miRNA
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    8/99 QIAGEN miScript miRNA Assays for microRNAs that regulate BCL7A (see all 99):
    hsa-miR-520e hsa-miR-3194-5p hsa-miR-15a hsa-miR-519a hsa-miR-502-3p hsa-miR-1244 hsa-miR-4325 hsa-miR-376a*
    SwitchGear 3'UTR luciferase reporter plasmidBCL7A 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BCL7A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BCL7A

    Additional mRNA sequence: 

    AK296159.1 AK316486.1 BC094723.1 BC113627.1 X89984.1 

    5 DOTS entries:

    DT.447256  DT.40263407  DT.100719098  DT.86852966  DT.86853243 

    24/140 AceView cDNA sequences (see all 140):

    AI684370 H79678 AI199447 AW768827 AI380191 BX390202 BQ216908 BQ930841 
    BI916374 BM468560 AA417616 BM665948 BE047975 F02907 BE550028 BG056289 
    AW295296 BM711997 AI671188 BU509110 AW874477 Z41714 AA477069 AA665996 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BCL7A expression in normal human tissues (normalized intensities)      BCL7A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAAATGTCT
    BCL7A Expression
    About this image


    BCL7A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Postnatal Endothelial Cells Blood Brain Barrier
             superior temporal gyrus   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Neural Crest (Sensory Organs)
             sensory organ/nose/vomeronasal organ   
     
     Blood Brain Barrier (Nervous System)
             Postnatal Endothelial Cells Blood Brain Barrier
     
     Endothelium (Cardiovascular System)
             Postnatal Endothelial Cells Blood Brain Barrier

    See BCL7A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BCL7A

    SOURCE GeneReport for Unigene cluster: Hs.530970
        SABiosciences Custom PCR Arrays for BCL7A
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCL7A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for BCL7A gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bcl7a1 , 5 B cell CLL/lymphoma 7A1, 5 89.37(n)1
    94.29(a)1
      5 (62.92 cM)5
    770451  NM_029850.31  NP_084126.11 
     1233438345 
    chicken
    (Gallus gallus)
    Aves BCL7A1 B-cell CLL/lymphoma 7A 78.89(n)
    84.76(a)
      416856  XM_415148.3  XP_415148.2 
    lizard
    (Anolis carolinensis)
    Reptilia BCL7A6
    Uncharacterized protein
    78(a)
    1 ↔ 1
    GL343550.1(382213-412156)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ625688.12   -- 76.66(n)    BJ625688.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AY394963.12   -- 82.87(n)    AY394963.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BCL7-like6
    BCL7-like
    38(a)
    1 → many
    X(9250667-9252627)
    worm
    (Caenorhabditis elegans)
    Secernentea C28H8.16
    BCL7-like protein C28H8.1
    36(a)
    1 → many
    III(5926060-5927166)


    ENSEMBL Gene Tree for BCL7A (if available)
    TreeFam Gene Tree for BCL7A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BCL7A gene
    BCL7B2  BCL7C2  
    2 SIMAP similar genes for BCL7A using alignment to 1 protein entry:     BCL7A_HUMAN:
    BCL7B    BCL7C

    BCL7A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/938 SNPs in BCL7A are shown (see all 938)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2016927031,2
    --122457935(+) TTCTC-/TTTTTT 2 -- us2k10--------
    rs1920251481,2
    --122457936(+) TTCTCA/TTTTTT 2 -- us2k10--------
    rs1417492791,2
    C--122457953(+) TTCTT-/TCTC  
            
    TCTTT
    2 -- us2k10--------
    rs1454578531,2
    C--122457986(+) TTTTA-/TTTT  
      GTTTTG
    TTTTG
    2 -- us2k10--------
    rs772938541,2
    --122457995(+) GTTTTA/G/TTTTTG 2 -- us2k11CSA 2
    rs1401471911,2
    --122458137(+) CACCAC/TGCCCA 2 -- us2k10--------
    rs1837331991,2
    --122458200(+) GGTCTC/TGAACT 2 -- us2k10--------
    rs108406401,2
    C,F,A--122458245(+) agtgcC/Tgggat 2 -- us2k15Minor allele frequency- T:0.20NA 10
    rs1879495791,2
    --122458337(+) GGCTGG/TATCTC 2 -- us2k10--------
    rs768532881,2
    C--122458589(+) TGTTCA/TTTTCT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for BCL7A (122457328 - 122499950 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for BCL7A:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2676551CNV Deletion23128226

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing BCL7A
    DNA2.0 Custom Variant and Variant Library Synthesis for BCL7A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601406    OMIM disorders: --

    UniProtKB/Swiss-Prot: BCL7A_HUMAN, Q4VC05
  • Note=Chromosomal aberrations involving BCL7A may be a cause of B-cell non-Hodgkin lymphoma. Three-way
    translocation t(8;14;12)(q24.1;q32.3;q24.1) with MYC and with immunoglobulin gene regions

  • 9 diseases for BCL7A:    About MalaCards
    juvenile astrocytoma    non-hodgkin lymphoma    burkitt's lymphoma    hodgkin's lymphoma
    supravalvular aortic stenosis    williams syndrome    cutaneous t cell lymphoma    mycosis fungoides
    astrocytoma


    BCL7A for disorders           About GeneDecksing

    Genetic Association Database (GAD): BCL7A
    Human Genome Epidemiology (HuGE) Navigator: BCL7A (3 documents)

    Export disorders for BCL7A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BCL7A gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with BCL7A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of complex chromosomal translocation t(8;14;12)(q24.1;q32.3;q24.1) in a Burkitt lymphoma cell line defines a new gene (BCL7A) with homology to caldesmon. (PubMed id 8605326)1, 2, 3, 9 Zani V.J.... Dyer M.J.S. (1996)
    2. Risk of non-Hodgkin lymphoma associated with germline variation in genes that regulate the cell cycle, apoptosis, and lymphocyte development. (PubMed id 19336552)1, 4, 9 Morton L.M....Hartge P. (2009)
    3. The BCL7 gene family: deletion of BCL7B in Williams syndrome. (PubMed id 9931421)1, 3, 9 Jadayel D.M....Dyer M.J. (1998)
    4. Association between genetic variants in VEGF, ERCC3 a nd occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (2009)
    5. Common genetic variants in candidate genes and risk o f familial lymphoid malignancies. (PubMed id 19573080)1, 4 Liang X.S....Goldin L.R. (2009)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Loss of BCL7A expression correlates with poor disease prognosis in patients with early-stage cutaneous T-cell lymphoma. (PubMed id 22856870)1 Litvinov I.V....Sasseville D. (2013)
    8. BCL7A protein expression in normal and malignant lymph oid tissues. (PubMed id 23043359)1 Ramos-Medina R....Roncador G. (2013)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 605 HGNC: 1004 AceView: BCL7A Ensembl:ENSG00000110987 euGenes: HUgn605
    ECgene: BCL7A H-InvDB: BCL7A

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BCL7A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BCL7A Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BCL7A gene:
    Search GeneIP for patents involving BCL7A

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