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 A Basic Helix-Loop-Helix Protein 15 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 II BHLH Protein MIST1 3
  • BHLHa15 4
  • BHLHb8 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 Pleural Empyema and Maturity-Onset Diabetes Of The Young. Among its related pathways are Regulation of beta-cell development. Gene Ontology (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 NEUROD6.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for BHLHA15 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BHLHA15 Gene

Genomics for BHLHA15 Gene

GeneHancer (GH) Regulatory Elements for BHLHA15 Gene

Promoters and enhancers for BHLHA15 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BHLHA15 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BHLHA15

Top Transcription factor binding sites by QIAGEN in the BHLHA15 gene promoter:
  • AML1a
  • C/EBPalpha
  • CUTL1
  • deltaCREB
  • LUN-1
  • NF-1
  • NF-1/L
  • STAT3

Genomic Locations for BHLHA15 Gene

Genomic Locations for BHLHA15 Gene
chr7:98,211,427-98,212,979
(GRCh38/hg38)
Size:
1,553 bases
Orientation:
Plus strand
chr7:97,840,739-97,842,291
(GRCh37/hg19)
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:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for BHLHA15

No data available for DME Specific Peptides for BHLHA15 Gene

Domains & Families for BHLHA15 Gene

Gene Families for BHLHA15 Gene

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

Protein Domains for BHLHA15 Gene

Blocks:
  • Basic helix-loop-helix dimerization domain bHLH
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BHLHA15 Gene

GenScript: Design optimal peptide antigens:
  • Muscle, intestine and stomach expression 1 (BHA15_HUMAN)

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.
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).

Phenotypes From GWAS Catalog for BHLHA15 Gene

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:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific 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

Clone 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
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 BHLHA15 gene
Compartment Confidence
nucleus 4
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BHLHA15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with BHLHA15: view

Pathways & Interactions for BHLHA15 Gene

PathCards logo

SuperPathways 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:0006851 mitochondrial calcium ion transmembrane transport IEA --
GO:0007030 Golgi organization IEA --
GO:0007186 G protein-coupled receptor signaling pathway IEA --
GO:0007267 cell-cell signaling IEA --
GO:0010832 negative regulation of myotube differentiation ISS --
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 Approved Nutra 7884
genes like me logo Genes that share compounds with BHLHA15: view

Transcripts for BHLHA15 Gene

mRNA/cDNA for BHLHA15 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Expression for BHLHA15 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for BHLHA15 Gene

  • Stomach(2.9)
  • Pancreas(2.5)
genes like me logo Genes that share expression patterns with BHLHA15: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BHLHA15 Gene

Orthologs for BHLHA15 Gene

This gene was present in the common ancestor of animals.

Orthologs for BHLHA15 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BHLHA15 31 30
  • 99.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BHLHA15 31 30
  • 84.31 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BHLHA15 31 30
  • 82.07 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Bhlha15 17 31 30
  • 79.49 (n)
rat
(Rattus norvegicus)
Mammalia Bhlha15 30
  • 77.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BHLHA15 31
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BHLHA15 31
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BHLHA15 31
  • 71 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii bhlha15 31
  • 44 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta dimm 31
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea lin-32 31
  • 23 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4374 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BHLHA15: view image

Paralogs for BHLHA15 Gene

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

  • BHA15_HUMAN
genes like me logo Genes that share paralogs with BHLHA15: view

Variants for BHLHA15 Gene

Additional dbSNP identifiers (rs#s) for BHLHA15 Gene

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)

Additional Variant Information for BHLHA15 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BHLHA15 Gene

Disorders for BHLHA15 Gene

MalaCards: The human disease database

(2) MalaCards diseases for BHLHA15 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
pleural empyema
  • abscess of pleural cavity
maturity-onset diabetes of the young
  • mody
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BHLHA15

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 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 AS … Kealey T (Mechanisms of development 2002) 2 3 4 54
  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 KM … van den Brandt PA (Annals of epidemiology 2010) 3 41 54
  3. Phylogenetic and expression analysis of the basic helix-loop-helix transcription factor gene family: genomic approach to cellular differentiation. (PMID: 18557763) Stevens JD … Skinner MK (Differentiation; research in biological diversity 2008) 2 3 54
  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 54
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 54

Products for BHLHA15 Gene

Sources for BHLHA15 Gene