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

BHLHA15 Gene

protein-coding   GIFtS: 50
GCID: GC07P097841

basic helix-loop-helix family, member a15

(Previous names: basic helix-loop-helix domain containing, class B, 8 )
(Previous symbol: BHLHB8)
 Explore 4 diseases affiliated with
BHLHA15 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for BHLHA15    

Aliases
for BHLHA15 gene

(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 Family, Member A151 2     Muscle, Intestine And Stomach Expression 12 3
BHLHB81 2 3     MIST-12 3
MIST11 2 3     Class A Basic Helix-Loop-Helix Protein 152
Basic Helix-Loop-Helix Domain Containing, Class B, 81 2     Class II BHLH Protein MIST12
BHLHa151     BHLHb81
Class B Basic Helix-Loop-Helix Protein 82 3     

External Ids:    HGNC: 222651   Entrez Gene: 1686202   Ensembl: ENSG000001805357   OMIM: 6086065   UniProtKB: Q7RTS13   

Export aliases for BHLHA15 gene to outside databases

Previous GC identifers: GC07P097680 GC07P092442


Summaries
for BHLHA15 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: BHA15_HUMAN, Q7RTS1
Function: Plays a role in controlling the transcriptional activity of MYOD1, ensuring that expanding myoblast
populations remain undifferentiated. Repression may occur through muscle-specific E-box occupancy by homodimers. May
also negatively regulate bHLH-mediated transcription through an N-terminal repressor domain. Serves as a key regulator
of acinar cell function, stability, and identity. Also required for normal organelle localization in exocrine cells
and for mitochondrial calcium ion transport. May function as a unique regulator of gene expression in several
different embryonic and postnatal cell lineages. Binds to the E-box consensus sequence 5'-CANNTG-3' (By similarity)

Gene Wiki entry for BHLHA15 (BHLHB8)


Genomic Views
for BHLHA15 gene

(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_000007.13  NC_018918.1  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BHLHA15 gene promoter:
         NF-1/L   NF-1   AML1a   deltaCREB   STAT3   LUN-1   CUTL1   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BHLHA15 promoter sequence
   Search SABiosciences Chromatin IP Primers for BHLHA15

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BHLHA15


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

Entrez Gene cytogenetic band: 7q21.3   Ensembl cytogenetic band:  7q21.3   HGNC cytogenetic band: 7q21.3

BHLHA15 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BHLHA15 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P097841:  view genomic region     (about GC identifiers)

Start:
 97,841,566 bp from pter      End:
 97,842,271 bp from pter
Size:
 706 bases      Orientation:
 plus strand

1 alternative location:
Chr7+,CRA_TCAG 97,166,444-97,167,149     

Proteins
for BHLHA15 gene

(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: BHA15_HUMAN, Q7RTS1 (See protein sequence)
Recommended Name: Class A basic helix-loop-helix protein 15  
Size: 189 amino acids; 20818 Da
Subunit: Forms homodimers or heterodimers with TCF3 gene products E12 and E47. These dimers bind to the E-box site,
however, heterodimer with MYOD1 does not bind target DNA (By similarity)
Subcellular location: Nucleus (Probable)
Secondary accessions: A4D271 Q14DE4

Explore the universe of human proteins at neXtProt for BHLHA15: NX_Q7RTS1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q7RTS1

    • BHLHA15 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_803238.1  
    ENSEMBL proteins: 
     ENSP00000326391  

    Human Recombinant Protein Products: 
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    Uscn Proteins for BHLHA15

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--


    BHLHA15 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for BHLHA15

    Protein Domains /
    Families
    for BHLHA15 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    BHLHA15 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR011598 HLH_dom

    Graphical View of Domain Structure for InterPro Entry Q7RTS1

    ProtoNet protein and cluster: Q7RTS1

    1 Blocks protein family: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: BHA15_HUMAN, Q7RTS1
    Domain: Lacks a classic transcription activation domain and instead possesses an N-terminal region capable of
    inhibiting heterologous activators (By similarity)
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    Function
    for BHLHA15 gene

    (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: BHA15_HUMAN, Q7RTS1
    Function: Plays a role in controlling the transcriptional activity of MYOD1, ensuring that expanding myoblast
    populations remain undifferentiated. Repression may occur through muscle-specific E-box occupancy by homodimers. May
    also negatively regulate bHLH-mediated transcription through an N-terminal repressor domain. Serves as a key regulator
    of acinar cell function, stability, and identity. Also required for normal organelle localization in exocrine cells
    and for mitochondrial calcium ion transport. May function as a unique regulator of gene expression in several
    different embryonic and postnatal cell lineages. Binds to the E-box consensus sequence 5'-CANNTG-3' (By similarity)

    miRNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0042803protein homodimerization activity IEA--


    BHLHA15 for ontologies           About GeneDecksing


    Animal Models:
         7 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Bhlha15):
     digestive/alimentary  endocrine/exocrine gland  growth/size  homeostasis/metabolism  liver/biliary system 
     mortality/aging  tumorigenesis 

    BHLHA15 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for BHLHA15 gene

    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation of beta-cell development
    		Maturity onset diabetes of the young0.56

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for BHLHA15):
        Maturity onset diabetes of the young


    BHLHA15 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BHLHA15

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for BHLHA15 (Q7RTS13 ENSP000003263914) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYOD1P151723, ENSP000002500034I2D: score=1 STRING: ENSP00000250003
    TCF3P159233, ENSP000002629654I2D: score=1 STRING: ENSP00000262965
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006851mitochondrial calcium ion transport IEA--
    GO:0007030Golgi organization IEA--
    GO:0007186G-protein coupled receptor signaling pathway IEA--
    GO:0007267cell-cell signaling IEA--


    BHLHA15 for ontologies           About GeneDecksing



    Drugs & Compounds
    for BHLHA15 gene

    (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
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    Browse Tocris compounds for BHLHA15

    1 HMDB Compound for BHLHA15    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Search CenterWatch for drugs/clinical trials and news about BHLHA15 / BHA15 

    Transcripts
    for BHLHA15 gene

    (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 BHLHA15 gene: 
    NM_177455.3  

    Unigene Cluster for BHLHA15:

    Basic helix-loop-helix family, member a15
    Hs.674510
    Unigene Representative Sequence: NM_177455
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000314018(uc003upf.1 uc022ahw.1)

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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BHLHA15
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BHLHA15

    Additional cDNA sequence: 

    BC113394.1 BC113396.1 

    1 DOTS entry:

    DT.86857382 

    24/26 AceView cDNA sequences (see all 26):

    NM_177455 AA367338 BK000276 BU102064 CF135082 CB049461 AI620424 BF513674 
    BM794468 BX648200 CB050328 BF000580 BQ636805 CB049462 AA809519 CB050327 
    R20110 R43162 T83424 BM809037 AW955845 H90438 R19096 R35371 

    GeneLoc Exon Structure


    Expression
    for BHLHA15 gene

    (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

    BHLHA15 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCCAGCAGCC

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

    BHLHA15 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)
    PancreasDorsal Pancreatic BudExocrine Progenitor CellsPancreas
    PancreasPancreatic AciniAcinar CellsPancreas
    PancreasVentral Pancreatic BudExocrine Progenitor CellsPancreas
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See BHLHA15 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.674510

    UniProtKB/Swiss-Prot: BHA15_HUMAN, Q7RTS1
    Tissue specificity: Expressed in brain, liver, spleen and skeletal muscle

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    In Situ
    Assay Products:     
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    Orthologs
    for BHLHA15 gene

    (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 BHLHA15 gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves BHLHA151 basic helix-loop-helix family, member a15 69.31(n)
    75.25(a)    		   427655  XM_425228.3  XP_425228.1 
    lizard
    (Anolis carolinensis)    		 Reptilia BHLHA156
    		 --
    		 62(a)
    		 1 ↔ 1
    		 GL343507.1(470305-470661)
    zebrafish
    (Danio rerio)    		 Actinopterygii bhlha151 basic helix-loop-helix family, member a15 60.14(n)
    54.05(a)    		   777671  NM_001077652.1  NP_001071120.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta dimm6
    		 dimmed
    		 16(a)
    		 1 ↔ 1
    		 2L(21331756-21342155)


    ENSEMBL Gene Tree for BHLHA15 (if available)
    TreeFam Gene Tree for BHLHA15 (if available) 

    Paralogs
    for BHLHA15 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BHLHA15 gene
    NEUROG32  FERD3L2  NEUROD22  NEUROD12  NEUROD62  ATOH12  NEUROG22  PTF1A2  
    ATOH72  NEUROG12  NEUROD42  
    3 SIMAP similar genes for BHLHA15 using alignment to 1 protein entry:     BHA15_HUMAN:
    BHLHE23    NEUROG3    ATOH1

    BHLHA15 for paralogs           About GeneDecksing



    Genomic Variants
    for BHLHA15 gene

    (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

    10/55 NCBI SNPs in BHLHA15 are shown (see all 55)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs19690061,2
    		C,H,--97839634(+) TTAGCC/TGGGCG 1 -- us2k15Minor allele frequency- T:0.00NA CSA 9
    rs102617501,2
    		C,--97839717(+) aggttC/Gcggtg 1 -- us2k10--------
    rs19690071,2
    		C,H,--97839719(+) GTTGCC/GGTGAG 1 -- us2k16Minor allele frequency- G:0.00NA WA CSA 11
    rs1434210131,2
    		--97839775(+) CGAAAC/GTCCGT 1 -- us2k10--------
    rs592188251,2
    		C--97839804(+) ACAAA-/CAAA  
                ACAGG     		1 -- us2k10--------
    rs787707861,2
    		C--97839915(+) CCGGGC/GGGCGG 1 -- us2k10--------
    rs15323811,2
    		C,F,--97840024(+) CTGCCC/TCTCCT 1 -- us2k1 trp35Minor allele frequency- T:0.11MN NA CSA WA 308
    rs346161351,2
    		C--97840145(+) GTGTC-/AGGGGGA 1 -- us2k12Minor allele frequency- AG:0.25NA 4
    rs1458692731,2
    		C,--97840145(+) GTGTC-/AGGGGGG 1 -- us2k10--------
    rs1176432881,2
    		F,--97840315(+) TCTTGG/CGGGGG 1 -- us2k11Minor allele frequency- C:0.20NA 120

    HapMap Linkage Disequilibrium report for BHLHA15 (97841566 - 97842271 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for BHLHA15: --

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    Disorders / Diseases
    for BHLHA15 gene

    (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
    BHLHA15 for disorders           About GeneDecksing

    OMIM gene information: 608606    OMIM disorders: --

    4 diseases for BHLHA15:    About MalaCards
    maturity-onset diabetes of the young    pancreatic ductal adenocarcinoma    adenocarcinoma    pancreatitis

    Human Genome Epidemiology (HuGE) Navigator: BHLHA15 (1 document)

    Export disorders for BHLHA15 gene to outside databases

    Publications
    for BHLHA15 gene

    (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 BHLHA15 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with BHLHA15)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening. (PubMed id 14516699)1, 2, 3 McLellan A.S.... Kealey T. (2002)
    2. Phylogenetic and expression analysis of the basic helix-loop-helix transcription factor gene family: genomic approach to cellular differentiation. (PubMed id 18557763)1, 3 Stevens J.D....Skinner M.K. (2008)
    3. 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)
    4. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    5. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    6. The basic helix-loop-helix transcription factor Mist1 functions as a transcriptional repressor of myoD. (PubMed id 9482738)1, 9 Lemercier C....Konieczny S.F. (1998)
    7. Activation of protein kinase Cd leads to increased pan creatic acinar cell dedifferentiation in the absence of MIST1. (PubMed id 22374815)1 Johnson C.L....Pin C.L. (2012)
    8. Biochemical and phosphoproteomic analysis of the helix -loop-helix protein E47. (PubMed id 22354994)1 Teachenor R....Murre C. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. Transcription factor MIST1 in terminal differentiatio n of mouse and human plasma cells. (PubMed id 21098683)1 Capoccia B.J....Mills J.C. (2011)

    External Searches for BHLHA15 gene

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    Genome Databases showing BHLHA15 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 168620 HGNC: 22265 AceView: MIST1 Ensembl:ENSG00000180535 euGenes: HUgn168620
    ECgene: BHLHA15 Kegg: 168620 H-InvDB: BHLHA15

    Other Databases showing BHLHA15 gene

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    Specialized Databases showing BHLHA15 gene

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    PharmGKB entry for BHLHA15 Pharmacogenomics, SNPs, Pathways

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