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

BHLHB9 Gene

protein-coding   GIFtS: 47
GCID: GC0XP101975

basic helix-loop-helix domain containing, class B, 9

 Explore 3 diseases affiliated with
BHLHB9 via our new
 Human Malady Compendium 
Biological research products
for BHLHB9
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Basic Helix-Loop-Helix Domain Containing, Class B, 91 2     P60-Like Protein2
P60TRP1     Protein BHLHb92
KIAA17011 3     BHLHb91
Transcription Regulator Of 60 KDa2 3     

External Ids:    HGNC: 293531   Entrez Gene: 808232   Ensembl: ENSG000001989087   UniProtKB: Q6PI773   

Export aliases for BHLHB9 gene to outside databases

Previous GC identifers: GC0XP101781 GC0XP101865 GC0XP091573


(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 BHLHB9:
This gene is a member of a gene family which encodes proteins with a basic helix-loop-helix domain. Other members of
this gene family encode proteins which function as transcription factors, either enhancing or inhibiting transcription
depending on the activity of other DNA binding proteins. The coding region of this gene is located entirely within the
terminal exon. The encoded protein may be involved in the survival of neurons (PMID: 15034937). Multiple alternatively
spliced variants, encoding the same protein, have been identified. (provided by RefSeq, Sep 2011)

UniProtKB/Swiss-Prot: BHLH9_HUMAN, Q6PI77
Function: May play a role in the control of cellular aging and survival




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011651.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BHLHB9 gene promoter:
         AREB6   AML1a   POU3F1   NF-kappaB2   Egr-1   HSF1 (long)   Nkx2-5   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBHLHB9 promoter sequence
   Search SABiosciences Chromatin IP Primers for BHLHB9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BHLHB9


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

Entrez Gene cytogenetic band: Xq23   Ensembl cytogenetic band:  Xq22.1   HGNC cytogenetic band: Xq23

BHLHB9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BHLHB9 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP101975:  view genomic region     (about GC identifiers)

Start:
101,975,616 bp from pter      End:
102,008,468 bp from pter
Size:
32,853 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BHLH9_HUMAN, Q6PI77 (See protein sequence)
Recommended Name: Protein BHLHb9  
Size: 547 amino acids; 60291 Da
Subcellular location: Cytoplasm. Nucleus. Note=Mainly cytoplasmic, and nuclear at lower level
Caution: Despite its name, no basic helix-loop-helix (bHLH) domain is detected by any prediction tool
Sequence caution: Sequence=BAB21792.1; Type=Erroneous initiation;
Secondary accessions: Q9C0G2

Explore the universe of human proteins at neXtProt for BHLHB9: NX_Q6PI77

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6PI77

  • BHLHB9 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (8 alternative transcripts): 
    NP_001135996.1  NP_001135997.1  NP_001135998.1  NP_001135999.1  NP_001136000.1  NP_001136001.1  NP_001136002.1  NP_085142.1  

    ENSEMBL proteins: 
     ENSP00000354675   ENSP00000361820   ENSP00000403226   ENSP00000405893   ENSP00000391722  

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    Uscn Proteins for BHLHB9

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--


    BHLHB9 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    BHLHB9 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR006911 ARM-rpt_dom
     IPR011989 ARM-like
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q6PI77

    ProtoNet protein and cluster: Q6PI77

    UniProtKB/Swiss-Prot: BHLH9_HUMAN, Q6PI77
    Similarity: Belongs to the GPRASP family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: BHLH9_HUMAN, Q6PI77
    Function: May play a role in the control of cellular aging and survival
    Induction: Down-regulated in colon cancer cells, due to CpG hypermethylation of its promoter

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BHLHB9

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for BHLHB9 (Q6PI773 ENSP000003546754) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IPO5O004103, ENSP000002615744I2D: score=1 STRING: ENSP00000261574
    PPP2R5EQ165373, ENSP000003376414I2D: score=1 STRING: ENSP00000337641
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 BHLHB9
    Search CenterWatch for drugs/clinical trials and news about BHLHB9 / BHLH9 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BHLHB9 gene (8 alternative transcripts): 
    NM_001142524.1  NM_001142525.1  NM_001142526.1  NM_001142527.1  NM_001142528.1  NM_001142529.1  NM_001142530.1  NM_030639.2  

    Unigene Cluster for BHLHB9:

    Basic helix-loop-helix domain containing, class B, 9
    Hs.4276  [show with all ESTs]
    Unigene Representative Sequence: NM_001142524
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000483294 ENST00000361229 ENST00000486988 ENST00000372735 ENST00000457056(uc010nog.3 uc011mrq.2 uc011mrr.2 uc011mrs.2 uc011mrt.2 uc004ejo.3)
    ENST00000447531(uc011mru.2) ENST00000448867(uc011mrv.2)

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    hsa-miR-34c-3p hsa-miR-582-3p hsa-miR-579 hsa-miR-24-1* hsa-miR-708* hsa-miR-551b* hsa-miR-3923 hsa-miR-664
    SwitchGear 3'UTR luciferase reporter plasmidBHLHB9 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AB051488.1 AF035288.1 AF547055.1 AK054934.1 BC041409.2 

    14 DOTS entries:

    DT.95101844  DT.414780  DT.121305774  DT.121305744  DT.95362962  DT.95205075  DT.121305742  DT.100746259 
    DT.121305613  DT.121305675  DT.121305813  DT.95362963  DT.97766110  DT.121305677 

    24/50 AceView cDNA sequences (see all 50):

    AK054934 BQ721693 BM788325 CD656228 AB051488 NM_030639 BX503788 N64005 
    Z39080 BM987572 AA970070 AF035288 BE044386 CA335213 Z42961 BC041409 
    T32425 AF547055 AA970925 H11797 D44986 T10236 AA192962 CD244544 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for BHLHB9 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g · 6h
    SP1:                                -     -     -     -                                                               
    SP2:                                      -     -     -                                                               
    SP3:                                -     -     -     -     -                                                         
    SP4:                                      -     -     -     -                                                         
    SP5:                                -     -     -     -     -                                                         


    ECgene alternative splicing isoforms for BHLHB9

    (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

    BHLHB9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCAATAAATA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    BHLHB9 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneEndochondral Facial BonesBone
    BrainHypothalamusBrain
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See BHLHB9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BHLHB9

    SOURCE GeneReport for Unigene cluster: Hs.4276

    UniProtKB/Swiss-Prot: BHLH9_HUMAN, Q6PI77
    Tissue specificity: Highly expressed in brain. Not expressed in lung or liver. Down-regulated in brain from patients
    suffering from Alzheimer disease

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    In Situ
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    (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 chordates.

    Orthologs for BHLHB9 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bhlhb91 , 5 basic helix-loop-helix domain containing, class B91, 5 80.88(n)1
    74.67(a)1
      X (57.31 cM)5
    702371  NM_001098222.11  NP_001091692.11 
     1358858535 
    chicken
    (Gallus gallus)
    Aves ARMC106
    Uncharacterized protein
    22(a)
    1 → many
    1(13884450-13891606)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    22(a)
    1 → many
    5(95306234-95312068)
    zebrafish
    (Danio rerio)
    Actinopterygii CR391963.36
    --
    16(a)
    1 → many
    25(19368324-19378456)


    ENSEMBL Gene Tree for BHLHB9 (if available)
    TreeFam Gene Tree for BHLHB9 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BHLHB9 gene
    ARMCX42  GPRASP22  ARMCX12  ARMCX22  ARMCX52  GPRASP12  ARMCX62  ARMC102  
    ARMCX32  
    1 SIMAP similar gene for BHLHB9 using alignment to 1 protein entry:     BHLH9_HUMAN:
    ARMCX5

    BHLHB9 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BHLHB9
    PGOHUM00000248241


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/332 NCBI SNPs in BHLHB9 are shown (see all 332    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs591077441,2
    C,--101973742(+) AGAAAA/GACTAG 6 -- us2k10--------
    rs1853012801,2
    --101973747(+) GACTAA/GCTTTT 6 -- us2k10--------
    rs1890310421,2
    --101973825(+) CCTTTA/GGGAGG 6 -- us2k10--------
    rs1814257301,2
    --101973859(+) CTCAAC/GAGTTC 6 -- us2k10--------
    rs1855189021,2
    --101974074(+) AAAAAA/TAAAAT 6 -- us2k10--------
    rs1425682411,2
    --101974086(+) AAATAA/TAATAA 6 -- us2k10--------
    rs1899108601,2
    --101974230(+) ATACAA/CAAACT 6 -- us2k10--------
    rs105461291,2
    C,--101974245(+) CAGGC-/ATGGTGGT 6 -- us2k11Minor allele frequency- ATG:0.00CSA 2
    rs113361431,2
    F--101974384(+) AAAAAA/-AAAAA 6 -- us2k1 trp32Minor allele frequency- -:0.50NA CSA 4
    rs78779341,2
    C,A,--101974588(+) aaatgG/Ttaaat 6 -- us2k1 tfbs31Minor allele frequency- T:0.00CSA 1

    HapMap Linkage Disequilibrium report for BHLHB9 (101975616 - 102008468 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for BHLHB9: --
    Locus Specific Mutation Databases (LSDB): BHLHB9

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BHLHB9
    DNA2.0 Custom Variant and Variant Library Synthesis for BHLHB9

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    BHLHB9 for disorders           About GeneDecksing

    3 diseases for BHLHB9:    About MalaCards
    alzheimer's disease    colon cancer    neuronitis


    Export disorders for BHLHB9 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 BHLHB9 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with BHLHB9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterizing the new transcription regulator protein p60TRP. (PubMed id 15034937)1, 2, 3 Heese K....Sawada T. (2004)
    2. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)1, 2, 3 Nagase T.... Ohara O. (2000)
    3. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    4. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    5. 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)
    6. Discovery of epigenetically silenced genes by methylated DNA immunoprecipitation in colon cancer cells. (PubMed id 18089774)2 Jacinto F.V.... Esteller M. (2007)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    8. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80823 HGNC: 29353 AceView: BHLHB9 Ensembl:ENSG00000198908 euGenes: HUgn80823
    ECgene: BHLHB9 H-InvDB: BHLHB9

    (According to HUGE)
    About This Section
    HUGE: KIAA1701

    (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 BHLHB9 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BHLHB9 gene:
    Search GeneIP for patents involving BHLHB9

    GeneCards and IP:
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