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Aliases for ASCL3 Gene

Aliases for ASCL3 Gene

  • Achaete-Scute Family BHLH Transcription Factor 3 2 3 5
  • HASH3 3 4 4
  • Class A Basic Helix-Loop-Helix Protein 42 3 4
  • BHLH Transcriptional Regulator Sgn-1 3 4
  • BHLHa42 3 4
  • SGN1 3 4
  • BHLH Transcription Factor Sgn-1 (Salivary Glands 1) 3
  • Achaete-Scute Complex (Drosophila) Homolog-Like 3 2
  • Achaete-Scute Complex Homolog 3 (Drosophila) 2
  • Achaete-Scute Complex Homolog 3 3
  • Achaete-Scute Homolog 3 3
  • BHLHA42 4
  • ASH-3 4

External Ids for ASCL3 Gene

Previous GeneCards Identifiers for ASCL3 Gene

  • GC11P009957
  • GC11M009650
  • GC11M008998
  • GC11M008923
  • GC11M008915
  • GC11M008629

Summaries for ASCL3 Gene

Entrez Gene Summary for ASCL3 Gene

  • Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008]

GeneCards Summary for ASCL3 Gene

ASCL3 (Achaete-Scute Family BHLH Transcription Factor 3) is a Protein Coding gene. Diseases associated with ASCL3 include Leukoencephalopathy With Vanishing White Matter. Gene Ontology (GO) annotations related to this gene include protein dimerization activity. An important paralog of this gene is ASCL5.

UniProtKB/Swiss-Prot for ASCL3 Gene

  • Transcriptional repressor. Inhibits myogenesis (By similarity).

Additional gene information for ASCL3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASCL3 Gene

Genomics for ASCL3 Gene

GeneHancer (GH) Regulatory Elements for ASCL3 Gene

Promoters and enhancers for ASCL3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J008916 Enhancer 0.8 Ensembl ENCODE 12 +25.6 25552 2.7 SOX5 SRF TFAP4 TEAD1 SIN3A TEAD3 SP1 JUND POLR2A MAFK TMEM9B-AS1 AKIP1 ASCL3 ENSG00000223080 TMEM9B SCUBE2 C11orf16
GH11J009015 Enhancer 0.9 Ensembl ENCODE 9.8 -72.8 -72815 0.3 CTCF SAP130 SIN3A ZIC2 RAD21 RFX5 GATA3 ZNF143 SMC3 DEK SCUBE2 ST5 AKIP1 ASCL3 ENSG00000223080 LOC105376541 MIR5691
GH11J008905 Enhancer 0.8 ENCODE 10.3 +36.4 36360 3.2 PKNOX1 INSM2 BRCA1 RFX5 ZNF121 ZNF366 RCOR1 ATF7 FOS CEBPB TMEM9B-AS1 AKIP1 ENSG00000223080 ASCL3 TMEM9B SCUBE2 C11orf16 ST5 GC11M008877 ENSG00000202276
GH11J009017 Enhancer 0.6 Ensembl ENCODE 9.8 -74.8 -74768 0.8 POLR2A GABPA SPI1 SCUBE2 ASCL3 ENSG00000223080 AKIP1 LOC105376541 MIR5691
GH11J008772 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 3 +166.8 166824 7.7 SOX13 CEBPG RAD21 ZFHX2 IKZF2 SRF GATAD2A SOX5 RXRA FOXA3 AKIP1 SCUBE2 TMEM9B TMEM9B-AS1 ASCL3 LOC105376539 LOC102724784 ENSG00000255159 GC11P008791 ST5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASCL3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASCL3 gene promoter:
  • C/EBPalpha
  • Nkx3-1 v4
  • Nkx3-1 v3
  • Nkx3-1 v2
  • Nkx3-1 v1
  • Nkx3-1
  • RORalpha1
  • AML1a
  • COMP1
  • HNF-3beta

Genomic Locations for ASCL3 Gene

Genomic Locations for ASCL3 Gene
5,462 bases
Minus strand
5,462 bases
Minus strand

Genomic View for ASCL3 Gene

Genes around ASCL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASCL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASCL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASCL3 Gene

Proteins for ASCL3 Gene

  • Protein details for ASCL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Achaete-scute homolog 3
    Protein Accession:
    Secondary Accessions:
    • Q8WYQ6

    Protein attributes for ASCL3 Gene

    180 amino acids
    Molecular mass:
    20797 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein.
    • Sequence=CAB92288.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ASCL3 Gene

Post-translational modifications for ASCL3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASCL3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ASCL3 Gene

Domains & Families for ASCL3 Gene

Gene Families for ASCL3 Gene

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

Protein Domains for ASCL3 Gene

Suggested Antigen Peptide Sequences for ASCL3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ASCL3: view

No data available for UniProtKB/Swiss-Prot for ASCL3 Gene

Function for ASCL3 Gene

Molecular function for ASCL3 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor. Inhibits myogenesis (By similarity).

Gene Ontology (GO) - Molecular Function for ASCL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA,IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA --
GO:0003677 DNA binding ISS --
GO:0003700 contributes_to DNA binding transcription factor activity IBA --
genes like me logo Genes that share ontologies with ASCL3: view
genes like me logo Genes that share phenotypes with ASCL3: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ASCL3 Gene

Localization for ASCL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASCL3 Gene

Subcellular locations from

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 ASCL3 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for ASCL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005667 transcription factor complex IEA --
GO:0090575 RNA polymerase II transcription factor complex IBA --
genes like me logo Genes that share ontologies with ASCL3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ASCL3 Gene

Pathways & Interactions for ASCL3 Gene

SuperPathways for ASCL3 Gene

No Data Available

Interacting Proteins for ASCL3 Gene

Gene Ontology (GO) - Biological Process for ASCL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA,ISS --
genes like me logo Genes that share ontologies with ASCL3: view

No data available for Pathways by source and SIGNOR curated interactions for ASCL3 Gene

Drugs & Compounds for ASCL3 Gene

No Compound Related Data Available

Transcripts for ASCL3 Gene

mRNA/cDNA for ASCL3 Gene

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

Unigene Clusters for ASCL3 Gene

Achaete-scute complex homolog 3 (Drosophila):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASCL3 Gene

No ASD Table

Relevant External Links for ASCL3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ASCL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASCL3 Gene

mRNA differential expression in normal tissues according to GTEx for ASCL3 Gene

This gene is overexpressed in Minor Salivary Gland (x37.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ASCL3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ASCL3 Gene:


SOURCE GeneReport for Unigene cluster for ASCL3 Gene:


mRNA Expression by UniProt/SwissProt for ASCL3 Gene:

Tissue specificity: Widely expressed in fetal and adult tissues.
genes like me logo Genes that share expression patterns with ASCL3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASCL3 Gene

Orthologs for ASCL3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASCL3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ASCL3 34 33
  • 98.71 (n)
(Canis familiaris)
Mammalia ASCL3 34 33
  • 86.56 (n)
(Bos Taurus)
Mammalia ASCL3 34 33
  • 85.45 (n)
(Rattus norvegicus)
Mammalia Ascl3 33
  • 75.86 (n)
(Mus musculus)
Mammalia Ascl3 16 34 33
  • 74.52 (n)
(Monodelphis domestica)
Mammalia ASCL3 34
  • 71 (a)
(Ornithorhynchus anatinus)
Mammalia ASCL3 34
  • 63 (a)
(Anolis carolinensis)
Reptilia ASCL3 34
  • 51 (a)
(Caenorhabditis elegans)
Secernentea hlh-6 34
  • 20 (a)
Species where no ortholog for ASCL3 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for ASCL3 Gene

Gene Tree for ASCL3 (if available)
Gene Tree for ASCL3 (if available)
Evolutionary constrained regions (ECRs) for ASCL3: view image

Paralogs for ASCL3 Gene

Paralogs for ASCL3 Gene

(3) SIMAP similar genes for ASCL3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ASCL3: view

Variants for ASCL3 Gene

Sequence variations from dbSNP and Humsavar for ASCL3 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000893749 -- 8,942,513(-) A/G intron_variant
rs1001257752 -- 8,940,087(-) C/G intron_variant
rs1002242743 -- 8,937,261(-) G/T downstream_transcript_variant
rs1002380408 -- 8,943,272(-) A/G upstream_transcript_variant
rs1003043222 -- 8,938,363(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ASCL3 Gene

Variant ID Type Subtype PubMed ID
dgv1640n54 CNV loss 21841781
dgv191e199 CNV deletion 23128226
esv2759803 CNV gain 17122850
esv3625324 CNV loss 21293372
nsv435923 CNV deletion 17901297
nsv499766 OTHER inversion 21111241
nsv520248 CNV loss 19592680
nsv553448 CNV loss 21841781
nsv553451 CNV loss 21841781
nsv7215 OTHER inversion 18451855
nsv832062 CNV loss 17160897

Variation tolerance for ASCL3 Gene

Residual Variation Intolerance Score: 64.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.84; 34.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASCL3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASCL3 Gene

Disorders for ASCL3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ASCL3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
leukoencephalopathy with vanishing white matter
  • cle
- elite association - COSMIC cancer census association via MalaCards
Search ASCL3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ASCL3

genes like me logo Genes that share disorders with ASCL3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASCL3 Gene

Publications for ASCL3 Gene

  1. Hash4, a novel human achaete-scute homologue found in fetal skin. (PMID: 15475265) Jonsson M … Asp J (Genomics 2004) 3 4 22 58
  2. Comparative genomic sequencing reveals a strikingly similar architecture of a conserved syntenic region on human chromosome 11p15.3 (including gene ST5) and mouse chromosome 7. (PMID: 11528127) Amid C … Schmidt ER (Cytogenetics and cell genetics 2001) 2 3 4 58
  3. Sgn1, a basic helix-loop-helix transcription factor delineates the salivary gland duct cell lineage in mice. (PMID: 11784080) Yoshida S … Nabeshima Y (Developmental biology 2001) 3 4 58
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3 58
  5. An atlas of combinatorial transcriptional regulation in mouse and man. (PMID: 20211142) Ravasi T … Hayashizaki Y (Cell 2010) 3 58

Products for ASCL3 Gene

Sources for ASCL3 Gene

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