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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. 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.

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

Genomics for ASCL4 Gene

Regulatory Elements for ASCL4 Gene

Enhancers for ASCL4 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
GH12F107747 0.8 Ensembl ENCODE 10.9 -25.6 -25624 3.0 RAD51 JUN HMBOX1 USF2 PWP1 PRDM4 ASCL4 GC12M107739
GH12F107351 1.5 FANTOM5 Ensembl ENCODE 1.3 -422.0 -422016 2.6 MLX ARID4B ZNF48 SLC30A9 SP5 PPARG KAT8 MIER3 MAFF ETV4 BTBD11 CRY1 ASCL4 GC12M107333 GC12M107354
GH12F107778 1 Ensembl ENCODE 0.4 +5.2 5216 2.4 HDGF ELF3 BCOR PKNOX1 TBL1XR1 ZMYM3 NFXL1 ZIC2 RELA ZNF121 PWP1 ASCL4 GC12P107784
GH12F107784 0.4 ENCODE 0.4 +10.2 10242 0.7 NFE2 ZNF548 PRDM4 PWP1 SART3 CRY1 GC12P107784 ASCL4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASCL4 on UCSC Golden Path with GeneCards custom track

Genomic Location for ASCL4 Gene

107,774,385 bp from pter
107,776,644 bp from pter
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

Protein Domains for ASCL4 Gene

Suggested Antigen Peptide Sequences for ASCL4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 bHLH (basic helix-loop-helix) domain.
  • Contains 1 bHLH (basic helix-loop-helix) domain.
genes like me logo Genes that share domains with ASCL4: view

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 transcription factor activity, sequence-specific DNA binding 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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

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 from RNA polymerase II promoter 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

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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 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.
genes like me logo Genes that share expression patterns with ASCL4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 34 35
  • 98.51 (n)
(Bos Taurus)
Mammalia ASCL4 34 35
  • 81.64 (n)
(Mus musculus)
Mammalia Ascl4 34 16 35
  • 80.1 (n)
(Canis familiaris)
Mammalia ASCL4 34 35
  • 79.65 (n)
(Rattus norvegicus)
Mammalia Ascl4 34
  • 78.04 (n)
(Monodelphis domestica)
Mammalia ASCL4 35
  • 52 (a)
(Ornithorhynchus anatinus)
Mammalia ASCL4 35
  • 49 (a)
(Gallus gallus)
Aves ASCL4 34 35
  • 69.31 (n)
(Anolis carolinensis)
Reptilia ASCL4 35
  • 52 (a)
(Danio rerio)
Actinopterygii ASCL4 35
  • 33 (a)
(Caenorhabditis elegans)
Secernentea hlh-6 35
  • 18 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs11113472 -- 107,774,808(+) CCTAG(A/G)GTGGT utr-variant-5-prime
rs112103413 -- 107,775,801(+) CAACC(C/T)AAGGT utr-variant-3-prime
rs112505988 -- 107,776,232(+) TCCTT(C/T)GGGAA utr-variant-3-prime
rs114212068 -- 107,776,148(+) AACTT(C/T)ACCGC utr-variant-3-prime
rs114374416 -- 107,772,444(+) AGCCT(C/T)GCCTT upstream-variant-2KB

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)

Relevant External Links 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

Relevant External Links for ASCL4

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

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 64
  2. 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) 3 4 64
  3. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3 64
  4. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. (PMID: 24927181) Navarini A.A. … Barker J.N. (Nat Commun 2014) 3 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for ASCL4 Gene

Sources for ASCL4 Gene

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