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Aliases for BBX Gene

Aliases for BBX Gene

  • BBX, HMG-Box Containing 2 3 5
  • HMG Box-Containing Protein 2 3 4
  • Bobby Sox Homolog 3 4
  • X 001 Protein 2 3
  • HBP2 3 4
  • HMG Box Transcription Factor BBX 3
  • Bobby Sox Homolog (Drosophila) 2
  • Ag Recognized By Treg Cells 1 3
  • HSPC339 3
  • MDS001 3
  • ARTC1 3

External Ids for BBX Gene

Previous GeneCards Identifiers for BBX Gene

  • GC03P103845
  • GC03P106769
  • GC03P108523
  • GC03P108562
  • GC03P108724
  • GC03P107241
  • GC03P104615

Summaries for BBX Gene

GeneCards Summary for BBX Gene

BBX (BBX, HMG-Box Containing) is a Protein Coding gene. Diseases associated with BBX include Type 1 Diabetes Mellitus 3 and Type 1 Diabetes Mellitus 5. An important paralog of this gene is CIC.

UniProtKB/Swiss-Prot for BBX Gene

  • Transcription factor that is necessary for cell cycle progression from G1 to S phase.

Gene Wiki entry for BBX Gene

Additional gene information for BBX Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BBX Gene

Genomics for BBX Gene

GeneHancer (GH) Regulatory Elements for BBX Gene

Promoters and enhancers for BBX Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J107521 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 658.3 +1.1 1101 4.6 HDGF PKNOX1 FOXA2 ARID4B NEUROD1 SIN3A FEZF1 ZNF2 ZBTB7B YY1 BBX GC03P107695
GH03J107428 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE 11.9 -92.4 -92381 4.4 PKNOX1 SIN3A GLI4 ZNF2 YY1 ETS1 GLIS2 ZNF143 ZNF202 SP3 LINC01990 BBX CCDC54 LOC101929579
GH03J107240 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 11.5 -281.6 -281635 2.6 PKNOX1 SIN3A ZNF335 GLIS2 ZNF207 ZNF143 ZBTB11 ZNF398 ZNF843 GLIS1 LINC00882 DUBR BBX CCDC54 GC03P107248
GH03J107235 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.5 -286.6 -286553 2.4 PKNOX1 RB1 ARID4B ZNF2 RAD21 RFX5 GTF3C2 ZNF366 SCRT2 ZNF143 BBX CCDC54 LINC00882 LOC344593
GH03J107597 Promoter/Enhancer 1.3 Ensembl ENCODE 10.4 +76.2 76169 2.7 ELF3 PKNOX1 FOXA2 YY1 SCRT2 ATF7 CREM THAP11 MIXL1 NFKBIZ BBX GC03P107695
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BBX on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BBX gene promoter:
  • E2F-5
  • Oct-B1
  • SRY
  • E2F-4
  • E2F-3a
  • E2F-2
  • E2F-1
  • E2F
  • FOXO4
  • oct-B2

Genomic Locations for BBX Gene

Genomic Locations for BBX Gene
chr3:107,522,936-107,811,329
(GRCh38/hg38)
Size:
288,394 bases
Orientation:
Plus strand
chr3:107,241,783-107,530,171
(GRCh37/hg19)
Size:
288,389 bases
Orientation:
Plus strand

Genomic View for BBX Gene

Genes around BBX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BBX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BBX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BBX Gene

Proteins for BBX Gene

  • Protein details for BBX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WY36-BBX_HUMAN
    Recommended name:
    HMG box transcription factor BBX
    Protein Accession:
    Q8WY36
    Secondary Accessions:
    • A2RRM7
    • Q2TAJ1
    • Q7L3J8
    • Q7LBY8
    • Q8NDB0
    • Q8WY35
    • Q9H0J6

    Protein attributes for BBX Gene

    Size:
    941 amino acids
    Molecular mass:
    105130 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI10904.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for BBX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BBX Gene

Post-translational modifications for BBX Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BBX Gene

Domains & Families for BBX Gene

Gene Families for BBX Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for BBX Gene

Suggested Antigen Peptide Sequences for BBX Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BBX: view

No data available for UniProtKB/Swiss-Prot for BBX Gene

Function for BBX Gene

Molecular function for BBX Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that is necessary for cell cycle progression from G1 to S phase.

Phenotypes From GWAS Catalog for BBX Gene

Gene Ontology (GO) - Molecular Function for BBX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM 19274049
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with BBX: view
genes like me logo Genes that share phenotypes with BBX: view

Animal Models for BBX Gene

MGI Knock Outs for BBX:
  • Bbx Bbx<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for BBX Gene

miRTarBase miRNAs that target BBX

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BBX

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BBX Gene

Localization for BBX Gene

Subcellular locations from UniProtKB/Swiss-Prot for BBX Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BBX gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BBX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with BBX: view

Pathways & Interactions for BBX Gene

No Data Available

Interacting Proteins for BBX Gene

Gene Ontology (GO) - Biological Process for BBX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0060348 bone development IEA --
genes like me logo Genes that share ontologies with BBX: view

No data available for Pathways by source and SIGNOR curated interactions for BBX Gene

Drugs & Compounds for BBX Gene

No Compound Related Data Available

Transcripts for BBX Gene

Unigene Clusters for BBX Gene

Bobby sox homolog (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BBX

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BBX Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
SP1: -
SP2:
SP3: -
SP4:

Relevant External Links for BBX Gene

GeneLoc Exon Structure for
BBX
ECgene alternative splicing isoforms for
BBX

Expression for BBX Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BBX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BBX Gene

This gene is overexpressed in Peripheral blood mononuclear cells (24.0), Lung (14.8), Blymphocyte (13.3), and Heart (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BBX Gene



Protein tissue co-expression partners for BBX Gene

NURSA nuclear receptor signaling pathways regulating expression of BBX Gene:

BBX

SOURCE GeneReport for Unigene cluster for BBX Gene:

Hs.124366

Evidence on tissue expression from TISSUES for BBX Gene

  • Bone marrow(4.2)
  • Liver(4.2)
  • Skin(4.1)
  • Nervous system(2.9)
  • Lung(2)
genes like me logo Genes that share expression patterns with BBX: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BBX Gene

Orthologs for BBX Gene

This gene was present in the common ancestor of animals.

Orthologs for BBX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BBX 34 33
  • 99.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BBX 34 33
  • 93.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BBX 34 33
  • 92.88 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Bbx 16 34 33
  • 88.31 (n)
rat
(Rattus norvegicus)
Mammalia Bbx 33
  • 87.19 (n)
oppossum
(Monodelphis domestica)
Mammalia BBX 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BBX 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves BBX 34 33
  • 75.51 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BBX 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bbx 33
  • 65.3 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100005540 33
  • 60.52 (n)
BBX 34
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta bbx 34
  • 8 (a)
ManyToMany
cic 34
  • 6 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea gei-3 34
  • 8 (a)
OneToMany
Species where no ortholog for BBX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BBX Gene

ENSEMBL:
Gene Tree for BBX (if available)
TreeFam:
Gene Tree for BBX (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BBX: view image

Paralogs for BBX Gene

Paralogs for BBX Gene

(3) SIMAP similar genes for BBX Gene using alignment to 20 proteins:

  • BBX_HUMAN
  • A2RRM7_HUMAN
  • C9IYG9_HUMAN
  • C9IYS9_HUMAN
  • C9J067_HUMAN
  • C9J0J4_HUMAN
  • C9J8D0_HUMAN
  • C9JA69_HUMAN
  • C9JC04_HUMAN
  • C9JD74_HUMAN
  • C9JE62_HUMAN
  • C9JIZ2_HUMAN
  • C9JNU3_HUMAN
  • C9JSH4_HUMAN
  • C9JYU6_HUMAN
  • C9JZA0_HUMAN
  • C9K0D1_HUMAN
  • D3DN56_HUMAN
  • H7C1Q0_HUMAN
  • H7C1U1_HUMAN
genes like me logo Genes that share paralogs with BBX: view

Variants for BBX Gene

Sequence variations from dbSNP and Humsavar for BBX Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000008827 -- 107,758,837(+) C/T intron_variant
rs1000012693 -- 107,751,000(+) G/A intron_variant
rs1000026185 -- 107,758,367(+) T/C intron_variant
rs1000027067 -- 107,779,997(+) C/T intron_variant
rs1000030038 -- 107,811,662(+) C/T downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for BBX Gene

Variant ID Type Subtype PubMed ID
esv2656585 CNV deletion 23128226
esv2670666 CNV deletion 23128226
esv2673634 CNV deletion 23128226
esv27545 CNV loss 19812545
esv3597310 CNV loss 21293372
esv3597311 CNV loss 21293372
esv3597312 CNV loss 21293372
esv3597314 CNV loss 21293372
nsv1011158 CNV gain 25217958
nsv473623 CNV novel sequence insertion 20440878
nsv477970 CNV novel sequence insertion 20440878
nsv591266 CNV gain 21841781
nsv829654 CNV gain 17160897
nsv829655 CNV gain 17160897

Variation tolerance for BBX Gene

Residual Variation Intolerance Score: 50.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.94; 79.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BBX Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BBX

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BBX Gene

Disorders for BBX Gene

MalaCards: The human disease database

(2) MalaCards diseases for BBX Gene - From: DISEASES

Disorder Aliases PubMed IDs
type 1 diabetes mellitus 3
  • diabetes mellitus, insulin-dependent, 3
type 1 diabetes mellitus 5
  • diabetes mellitus, insulin-dependent, 5
- elite association - COSMIC cancer census association via MalaCards
Search BBX in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BBX

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BBX: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BBX Gene

Publications for BBX Gene

  1. HBP2: a new mammalian protein that complements the fission yeast MBF transcription complex. (PMID: 11680820) Sánchez-Díaz A … Moreno S (Current genetics 2001) 2 3 4 58
  2. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 44 58
  3. Genome-wide and candidate gene association study of cigarette smoking behaviors. (PMID: 19247474) Caporaso N … Bergen AW (PloS one 2009) 3 44 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 58

Products for BBX Gene

Sources for BBX Gene

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