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Aliases for BHLHA15 Gene

Aliases for BHLHA15 Gene

  • Basic Helix-Loop-Helix Family Member A15 2 3 5
  • Basic Helix-Loop-Helix Domain Containing, Class B, 8 2 3
  • Muscle, Intestine And Stomach Expression 1 3 4
  • Class B Basic Helix-Loop-Helix Protein 8 3 4
  • BHLHB8 3 4
  • MIST-1 3 4
  • MIST1 3 4
  • Basic Helix-Loop-Helix Family, Member A15 2
  • Class A Basic Helix-Loop-Helix Protein 15 3
  • Class II BHLH Protein MIST1 3
  • BHLHa15 4

External Ids for BHLHA15 Gene

Previous HGNC Symbols for BHLHA15 Gene

  • BHLHB8

Previous GeneCards Identifiers for BHLHA15 Gene

  • GC07P097680
  • GC07P097841
  • GC07P092442

Summaries for BHLHA15 Gene

GeneCards Summary for BHLHA15 Gene

BHLHA15 (Basic Helix-Loop-Helix Family Member A15) is a Protein Coding gene. Diseases associated with BHLHA15 include Pancreas Adenocarcinoma. Among its related pathways are Regulation of beta-cell development. GO annotations related to this gene include protein homodimerization activity and RNA polymerase II regulatory region sequence-specific DNA binding. An important paralog of this gene is NEUROD2.

UniProtKB/Swiss-Prot for BHLHA15 Gene

  • 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 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BHLHA15 Gene

Genomics for BHLHA15 Gene

Regulatory Elements for BHLHA15 Gene

Enhancers for BHLHA15 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around BHLHA15 on UCSC Golden Path with GeneCards custom track

Promoters for BHLHA15 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for BHLHA15 Gene

Chromosome:
7
Start:
98,211,427 bp from pter
End:
98,212,979 bp from pter
Size:
1,553 bases
Orientation:
Plus strand

Genomic View for BHLHA15 Gene

Genes around BHLHA15 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BHLHA15 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BHLHA15 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BHLHA15 Gene

Proteins for BHLHA15 Gene

  • Protein details for BHLHA15 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7RTS1-BHA15_HUMAN
    Recommended name:
    Class A basic helix-loop-helix protein 15
    Protein Accession:
    Q7RTS1
    Secondary Accessions:
    • A4D271
    • Q14DE4

    Protein attributes for BHLHA15 Gene

    Size:
    189 amino acids
    Molecular mass:
    20818 Da
    Quaternary structure:
    • 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).

neXtProt entry for BHLHA15 Gene

Post-translational modifications for BHLHA15 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BHLHA15 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BHLHA15 Gene

Domains & Families for BHLHA15 Gene

Gene Families for BHLHA15 Gene

Protein Domains for BHLHA15 Gene

Suggested Antigen Peptide Sequences for BHLHA15 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7RTS1

UniProtKB/Swiss-Prot:

BHA15_HUMAN :
  • Lacks a classic transcription activation domain and instead possesses an N-terminal region capable of inhibiting heterologous activators.
Domain:
  • Lacks a classic transcription activation domain and instead possesses an N-terminal region capable of inhibiting heterologous activators.
  • Contains 1 bHLH (basic helix-loop-helix) domain.
genes like me logo Genes that share domains with BHLHA15: view

Function for BHLHA15 Gene

Molecular function for BHLHA15 Gene

UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for BHLHA15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with BHLHA15: view
genes like me logo Genes that share phenotypes with BHLHA15: view

Animal Models for BHLHA15 Gene

MGI Knock Outs for BHLHA15:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BHLHA15 Gene

Localization for BHLHA15 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BHLHA15 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BHLHA15 Gene COMPARTMENTS Subcellular localization image for BHLHA15 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BHLHA15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with BHLHA15: view

Pathways & Interactions for BHLHA15 Gene

genes like me logo Genes that share pathways with BHLHA15: view

Pathways by source for BHLHA15 Gene

1 KEGG pathway for BHLHA15 Gene

Gene Ontology (GO) - Biological Process for BHLHA15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0006851 mitochondrial calcium ion transport IEA --
GO:0007030 Golgi organization IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
GO:0007267 cell-cell signaling IEA --
genes like me logo Genes that share ontologies with BHLHA15: view

No data available for SIGNOR curated interactions for BHLHA15 Gene

Drugs & Compounds for BHLHA15 Gene

(1) Drugs for BHLHA15 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with BHLHA15: view

Transcripts for BHLHA15 Gene

mRNA/cDNA for BHLHA15 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(26) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BHLHA15 Gene

Basic helix-loop-helix family, member a15:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BHLHA15 Gene

No ASD Table

Relevant External Links for BHLHA15 Gene

GeneLoc Exon Structure for
BHLHA15
ECgene alternative splicing isoforms for
BHLHA15

Expression for BHLHA15 Gene

mRNA expression in normal human tissues for BHLHA15 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BHLHA15 Gene

This gene is overexpressed in Pancreas (x43.3).

Protein differential expression in normal tissues from HIPED for BHLHA15 Gene

This gene is overexpressed in Pancreas (42.7), Monocytes (9.3), and Placenta (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BHLHA15 Gene



Protein tissue co-expression partners for BHLHA15 Gene

NURSA nuclear receptor signaling pathways regulating expression of BHLHA15 Gene:

BHLHA15

SOURCE GeneReport for Unigene cluster for BHLHA15 Gene:

Hs.674510

mRNA Expression by UniProt/SwissProt for BHLHA15 Gene:

Q7RTS1-BHA15_HUMAN
Tissue specificity: Expressed in brain, liver, spleen and skeletal muscle.
genes like me logo Genes that share expression patterns with BHLHA15: view

Primer Products

Orthologs for BHLHA15 Gene

This gene was present in the common ancestor of animals.

Orthologs for BHLHA15 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BHLHA15 34
  • 82.07 (n)
  • 79.35 (a)
BHLHA15 35
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BHLHA15 34
  • 84.31 (n)
  • 82.35 (a)
BHLHA15 35
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bhlha15 34
  • 79.49 (n)
  • 84.62 (a)
Bhlha15 16
Bhlha15 35
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BHLHA15 34
  • 99.47 (n)
  • 99.47 (a)
BHLHA15 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bhlha15 34
  • 77.48 (n)
  • 80 (a)
oppossum
(Monodelphis domestica)
Mammalia BHLHA15 35
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BHLHA15 35
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BHLHA15 35
  • 71 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii bhlha15 35
  • 44 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta dimm 35
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea lin-32 35
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4374 35
  • 10 (a)
OneToOne
Species where no ortholog for BHLHA15 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)
  • chicken (Gallus gallus)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for BHLHA15 Gene

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

Paralogs for BHLHA15 Gene

(2) SIMAP similar genes for BHLHA15 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with BHLHA15: view

Variants for BHLHA15 Gene

Sequence variations from dbSNP and Humsavar for BHLHA15 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs10261750 -- 98,210,405(+) aggtt(C/G)cggtg upstream-variant-2KB
rs10270045 -- 98,212,306(+) TCCAG(C/G)GCCAT utr-variant-5-prime
rs10281824 -- 98,211,745(+) TGCTG(C/T)CCCAT upstream-variant-2KB
rs754464 -- 98,213,356(+) ATTTG(G/T)GGTAA downstream-variant-500B
rs56034325 -- 98,212,006(+) GTCAT(C/T)CTGGG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for BHLHA15 Gene

Variant ID Type Subtype PubMed ID
esv3614249 CNV loss 21293372
esv3614250 CNV gain 21293372
nsv831066 CNV loss 17160897
nsv951376 CNV deletion 24416366

Variation tolerance for BHLHA15 Gene

Gene Damage Index Score: 0.55; 11.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BHLHA15 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BHLHA15

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BHLHA15 Gene

Disorders for BHLHA15 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BHLHA15 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pancreas adenocarcinoma
  • adenocarcinoma of the pancreas
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for BHLHA15

Genetic Association Database (GAD)
BHLHA15
Human Genome Epidemiology (HuGE) Navigator
BHLHA15
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BHLHA15
genes like me logo Genes that share disorders with BHLHA15: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BHLHA15 Gene

Publications for BHLHA15 Gene

  1. Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening. (PMID: 14516699) McLellan A.S. … Kealey T. (Mech. Dev. 2002) 2 3 4 65
  2. Body mass index and von Hippel-Lindau gene mutations in clear-cell renal cancer: Results of the Netherlands Cohort Study on diet and cancer. (PMID: 20382342) Smits K.M. … van den Brandt P.A. (Ann Epidemiol 2010) 3 46 65
  3. Phylogenetic and expression analysis of the basic helix-loop-helix transcription factor gene family: genomic approach to cellular differentiation. (PMID: 18557763) Stevens J.D. … Skinner M.K. (Differentiation 2008) 2 3 65
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65
  5. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4 65

Products for BHLHA15 Gene

Sources for BHLHA15 Gene

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