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Aliases for ASCL4 Gene

Aliases for ASCL4 Gene

  • Achaete-Scute Family BHLH Transcription Factor 4 2 3 5
  • Class A Basic Helix-Loop-Helix Protein 44 3 4
  • Achaete-Scute-Like Protein 4 3 4
  • BHLHa44 3 4
  • ASH-4 3 4
  • HASH4 3 4
  • Achaete-Scute Complex Homolog 4 (Drosophila) 2
  • Achaete-Scute Complex-Like 4 (Drosophila) 2
  • Achaete-Scute Complex Homolog 4 3
  • Achaete-Scute Complex-Like 4 3
  • Class II BHLH Protein ASCL4 3
  • Achaete-Scute Homolog 4 3

External Ids for ASCL4 Gene

Previous GeneCards Identifiers for ASCL4 Gene

  • GC12P108101
  • GC12P106670
  • GC12P108168
  • GC12P105228

Summaries for ASCL4 Gene

Entrez Gene Summary for ASCL4 Gene

  • Basic helix-loop-helix transcription factors, such as ASCL4, 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 ASCL4 Gene

ASCL4 (Achaete-Scute Family BHLH Transcription Factor 4) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include protein dimerization activity. An important paralog of this gene is ASCL5.

UniProtKB/Swiss-Prot for ASCL4 Gene

  • Could be a transcriptional regulator involved in skin development.

Additional gene information for ASCL4 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASCL4 Gene

Genomics for ASCL4 Gene

GeneHancer (GH) Regulatory Elements for ASCL4 Gene

Promoters and enhancers for ASCL4 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
GH12I107747 Enhancer 0.8 Ensembl ENCODE dbSUPER 11 -25.6 -25624 3 JUN ZNF10 PWP1 PRDM4 ASCL4 GC12M107739 LOC101929162
GH12I107351 Enhancer 1.4 FANTOM5 Ensembl ENCODE 1.3 -422.0 -422016 2.6 FOXA2 MLX ARID4B ZNF48 SLC30A9 SP5 REST PPARG KAT8 NFIL3 BTBD11 CRY1 ASCL4 GC12M107333 GC12M107354
GH12I107778 Enhancer 0.9 Ensembl ENCODE 0.4 +5.1 5116 1.8 ELF3 PKNOX1 ELF1 DPF2 ATF2 IRF4 GABPA RELA ZNF217 BCL11A ASCL4 GC12P107784
GH12I107784 Enhancer 0.4 ENCODE 0.4 +10.2 10241 0.7 NFE2 REST ATF2 GC12P107784 PRDM4 PWP1 ASCL4
GH12I107780 Enhancer 0.2 Ensembl 0.4 +6.3 6316 0.2 GC12P107784 ASCL4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ASCL4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASCL4 gene promoter:

Genomic Locations for ASCL4 Gene

Genomic Locations for ASCL4 Gene
2,260 bases
Plus strand

Genomic View for ASCL4 Gene

Genes around ASCL4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASCL4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASCL4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASCL4 Gene

Proteins for ASCL4 Gene

  • Protein details for ASCL4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Achaete-scute homolog 4
    Protein Accession:
    Secondary Accessions:
    • Q7RTS2

    Protein attributes for ASCL4 Gene

    172 amino acids
    Molecular mass:
    19253 Da
    Quaternary structure:
    No Data Available
    • Sequence=DAA01055.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for ASCL4 Gene

Post-translational modifications for ASCL4 Gene

No Post-translational modifications

Other Protein References for ASCL4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ASCL4 Gene

Domains & Families for ASCL4 Gene

Gene Families for ASCL4 Gene

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

Suggested Antigen Peptide Sequences for ASCL4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ASCL4: view

No data available for UniProtKB/Swiss-Prot for ASCL4 Gene

Function for ASCL4 Gene

Molecular function for ASCL4 Gene

UniProtKB/Swiss-Prot Function:
Could be a transcriptional regulator involved in skin development.

Gene Ontology (GO) - Molecular Function for ASCL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA --
GO:0003677 DNA binding IEA --
GO:0003700 contributes_to DNA binding transcription factor activity IBA --
GO:0005515 protein binding IPI 25416956
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with ASCL4: view
genes like me logo Genes that share phenotypes with ASCL4: view

Clone Products

  • Addgene plasmids for ASCL4

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ASCL4 Gene

Localization for ASCL4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASCL4 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 ASCL4 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for ASCL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IEA --
GO:0090575 RNA polymerase II transcription factor complex IBA --
genes like me logo Genes that share ontologies with ASCL4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ASCL4 Gene

Pathways & Interactions for ASCL4 Gene

SuperPathways for ASCL4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ASCL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA,NAS 15475265
GO:0043588 skin development NAS 15475265
genes like me logo Genes that share ontologies with ASCL4: view

No data available for Pathways by source and SIGNOR curated interactions for ASCL4 Gene

Drugs & Compounds for ASCL4 Gene

No Compound Related Data Available

Transcripts for ASCL4 Gene

mRNA/cDNA for ASCL4 Gene

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

Unigene Clusters for ASCL4 Gene

Achaete-scute complex homolog 4 (Drosophila):
Representative Sequences:

Clone Products

  • Addgene plasmids for ASCL4

Alternative Splicing Database (ASD) splice patterns (SP) for ASCL4 Gene

No ASD Table

Relevant External Links for ASCL4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ASCL4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASCL4 Gene

mRNA differential expression in normal tissues according to GTEx for ASCL4 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x8.1).

Protein differential expression in normal tissues from HIPED for ASCL4 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ASCL4 Gene

Protein tissue co-expression partners for ASCL4 Gene

NURSA nuclear receptor signaling pathways regulating expression of ASCL4 Gene:


SOURCE GeneReport for Unigene cluster for ASCL4 Gene:


mRNA Expression by UniProt/SwissProt for ASCL4 Gene:

Tissue specificity: Expressed in skin. 7-fold higher expression in fetal skin than in adult skin. Weak expression also detected in fetal lung, aorta and brain, and in adult stomach, kidney, ovary and breast.

Evidence on tissue expression from TISSUES for ASCL4 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with ASCL4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASCL4 Gene

Orthologs for ASCL4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASCL4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ASCL4 33 34
  • 98.51 (n)
(Bos Taurus)
Mammalia ASCL4 33 34
  • 81.64 (n)
(Mus musculus)
Mammalia Ascl4 33 16 34
  • 80.1 (n)
(Canis familiaris)
Mammalia ASCL4 33 34
  • 79.65 (n)
(Rattus norvegicus)
Mammalia Ascl4 33
  • 78.04 (n)
(Monodelphis domestica)
Mammalia ASCL4 34
  • 52 (a)
(Ornithorhynchus anatinus)
Mammalia ASCL4 34
  • 49 (a)
(Gallus gallus)
Aves ASCL4 33 34
  • 69.31 (n)
(Anolis carolinensis)
Reptilia ASCL4 34
  • 52 (a)
(Danio rerio)
Actinopterygii ASCL4 34
  • 33 (a)
(Caenorhabditis elegans)
Secernentea hlh-6 34
  • 18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 16 (a)
Species where no ortholog for ASCL4 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)
  • 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 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 ASCL4 Gene

Gene Tree for ASCL4 (if available)
Gene Tree for ASCL4 (if available)

Paralogs for ASCL4 Gene

Paralogs for ASCL4 Gene

(3) SIMAP similar genes for ASCL4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ASCL4: view

Variants for ASCL4 Gene

Sequence variations from dbSNP and Humsavar for ASCL4 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1001115278 -- 107,776,558(+) G/A 3_prime_UTR_variant
rs1001471635 -- 107,776,843(+) T/C downstream_transcript_variant
rs1003360675 -- 107,773,722(+) A/G upstream_transcript_variant
rs1004105626 -- 107,776,149(+) A/G 3_prime_UTR_variant
rs1004321633 -- 107,775,839(+) G/A 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for ASCL4 Gene

Variant ID Type Subtype PubMed ID
nsv1038935 CNV gain 25217958
nsv560091 CNV gain 21841781

Variation tolerance for ASCL4 Gene

Gene Damage Index Score: 2.99; 49.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASCL4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASCL4 Gene

Disorders for ASCL4 Gene

Additional Disease Information for ASCL4

No disorders were found for ASCL4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ASCL4 Gene

Publications for ASCL4 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. 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) 3 4 58
  3. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A … Stelzl U (Molecular systems biology 2015) 3 58
  4. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. (PMID: 24927181) Navarini AA … Barker JN (Nature communications 2014) 3 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for ASCL4 Gene

  • Addgene plasmids for ASCL4

Sources for ASCL4 Gene

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