This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. [provided by RefSeq, J... See more...

Aliases for ASCL2 Gene

Aliases for ASCL2 Gene

  • Achaete-Scute Family BHLH Transcription Factor 2 2 3 5
  • HASH2 3 4 4
  • Class A Basic Helix-Loop-Helix Protein 45 3 4
  • Achaete-Scute Homolog 2 3 4
  • BHLHa45 3 4
  • ASH-2 3 4
  • Achaete-Scute Complex (Drosophila) Homolog-Like 2 2
  • Achaete-Scute Complex Homolog 2 (Drosophila) 2
  • Achaete-Scute Complex-Like 2 (Drosophila) 2
  • Mammalian Achaete/Scute Homologue 2 3
  • Achaete-Scute Complex Homolog 2 3
  • Achaete-Scute Complex-Like 2 3
  • BHLHA45 4
  • MASH2 3
  • Mash2 4
  • ASH2 3

External Ids for ASCL2 Gene

Previous GeneCards Identifiers for ASCL2 Gene

  • GC11P002271
  • GC11M002491
  • GC11M002249
  • GC11M002254
  • GC11M002246
  • GC11M002079

Summaries for ASCL2 Gene

Entrez Gene Summary for ASCL2 Gene

  • This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. [provided by RefSeq, Jul 2008]

GeneCards Summary for ASCL2 Gene

ASCL2 (Achaete-Scute Family BHLH Transcription Factor 2) is a Protein Coding gene. Diseases associated with ASCL2 include Beckwith-Wiedemann Syndrome and Intracranial Berry Aneurysm. Among its related pathways are Human Early Embryo Development and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is ASCL1.

UniProtKB/Swiss-Prot Summary for ASCL2 Gene

  • AS-C proteins are involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system.

Gene Wiki entry for ASCL2 Gene

Additional gene information for ASCL2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASCL2 Gene

Genomics for ASCL2 Gene

GeneHancer (GH) Regulatory Elements for ASCL2 Gene

Promoters and enhancers for ASCL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J002267 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 500.7 +1.5 1479 4.3 MYC USF1 TEAD4 ZFX CTCF GABPA ZBTB26 RFX1 HES1 ZBTB25 ASCL2 HSALNG0082209 C11orf21 H19 piR-38351-062
GH11J002201 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.3 +67.3 67334 3.6 POLR2G ZFX CLOCK TCF7 ZBTB7A HES1 MYC SRSF1 ZNF592 ZKSCAN1 ASCL2 TH piR-50444-054 HSALNG0082199
GH11J002212 Enhancer 1.4 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 9.5 +57.3 57254 2.3 EP300 POLR2G NCOR1 ZIC2 KDM6A TCF7 TGIF2 ZBTB7A TBX3 SRSF1 lnc-TH-1 TSPAN32 ASCL2 TH lnc-TSPAN32-4 piR-38351-062
GH11J002216 Enhancer 0.9 FANTOM5 Ensembl dbSUPER 12.5 +53.8 53751 2.4 USF1 REST SAP130 CTCF GABPB1 MAX MIER2 KLF1 RAD21 RBM39 ASCL2 TSPAN32 IGF2 IGF2-AS MIR483 CD81 ENSG00000199550 TRPM5 lnc-TH-1 piR-38351-062
GH11J002294 Enhancer 0.7 Ensembl ENCODE 13.3 -23.4 -23449 3.2 CTCF ZNF10 REST CTBP1 SMC3 RAD21 SPI1 MITF POLR2A CEBPB C11orf21 ASCL2 RNU6-878P TRPM5 ENSG00000199550 CD81 TSPAN32 piR-38791
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASCL2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASCL2

Top Transcription factor binding sites by QIAGEN in the ASCL2 gene promoter:
  • AhR
  • Arnt
  • Bach2
  • CREB
  • p300
  • RREB-1
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2

Genomic Locations for ASCL2 Gene

Genomic Locations for ASCL2 Gene
chr11:2,268,495-2,270,952
(GRCh38/hg38)
Size:
2,458 bases
Orientation:
Minus strand
chr11:2,289,725-2,292,182
(GRCh37/hg19)
Size:
2,458 bases
Orientation:
Minus strand

Genomic View for ASCL2 Gene

Genes around ASCL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASCL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASCL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASCL2 Gene

Proteins for ASCL2 Gene

  • Protein details for ASCL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99929-ASCL2_HUMAN
    Recommended name:
    Achaete-scute homolog 2
    Protein Accession:
    Q99929
    Secondary Accessions:
    • Q6PEY9
    • Q9UM68

    Protein attributes for ASCL2 Gene

    Size:
    193 amino acids
    Molecular mass:
    20185 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Interacts with SETD1A. Part of a complex composed at least of ASCL2, EMSY, HCFC1, HSPA8, CCAR2, MATR3, MKI67, RBBP5, TUBB2A, WDR5 and ZNF335; this complex may have a histone H3-specific methyltransferase activity.

neXtProt entry for ASCL2 Gene

Post-translational modifications for ASCL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASCL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ASCL2 Gene

Domains & Families for ASCL2 Gene

Gene Families for ASCL2 Gene

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

Protein Domains for ASCL2 Gene

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

Suggested Antigen Peptide Sequences for ASCL2 Gene

GenScript: Design optimal peptide antigens:
  • Mash2 (ASCL2_HUMAN)
genes like me logo Genes that share domains with ASCL2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ASCL2 Gene

Function for ASCL2 Gene

Molecular function for ASCL2 Gene

UniProtKB/Swiss-Prot Function:
AS-C proteins are involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system.
GENATLAS Biochemistry:
Drosophila achaete-scute homolog 2,expressed in extravillus trophoblast,paternally imprinted,telomeric imprinting domain at 11p15,containing ASCL2,IGF2,H19

Phenotypes From GWAS Catalog for ASCL2 Gene

Gene Ontology (GO) - Molecular Function for ASCL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 14561729
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 14561729
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with ASCL2: view
genes like me logo Genes that share phenotypes with ASCL2: view

Animal Models for ASCL2 Gene

MGI Knock Outs for ASCL2:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ASCL2 Gene

Localization for ASCL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASCL2 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 ASCL2 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ASCL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus NAS 8751384
GO:0005737 cytoplasm IDA,IEA 12917334
GO:0090575 RNA polymerase II transcription factor complex IBA 21873635
genes like me logo Genes that share ontologies with ASCL2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ASCL2 Gene

Pathways & Interactions for ASCL2 Gene

genes like me logo Genes that share pathways with ASCL2: view

Pathways by source for ASCL2 Gene

1 Qiagen pathway for ASCL2 Gene
  • Human Early Embryo Development

Gene Ontology (GO) - Biological Process for ASCL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 14561729
GO:0001666 response to hypoxia IEP 14561729
GO:0001701 in utero embryonic development IEA --
GO:0001890 placenta development NAS,IEA 14561729
GO:0006351 transcription, DNA-templated IDA 14561729
genes like me logo Genes that share ontologies with ASCL2: view

No data available for SIGNOR curated interactions for ASCL2 Gene

Drugs & Compounds for ASCL2 Gene

No Compound Related Data Available

Transcripts for ASCL2 Gene

mRNA/cDNA for ASCL2 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 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 ASCL2 Gene

No ASD Table

Relevant External Links for ASCL2 Gene

GeneLoc Exon Structure for
ASCL2

Expression for ASCL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ASCL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASCL2 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x6.1), Whole Blood (x5.3), and Skin - Sun Exposed (Lower leg) (x4.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ASCL2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASCL2

SOURCE GeneReport for Unigene cluster for ASCL2 Gene:

Hs.152475

mRNA Expression by UniProt/SwissProt for ASCL2 Gene:

Q99929-ASCL2_HUMAN
Tissue specificity: Expressed specifically in the extravillous trophoblasts of the developing placenta.

Evidence on tissue expression from TISSUES for ASCL2 Gene

  • Intestine(2.3)
genes like me logo Genes that share expression patterns with ASCL2: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASCL2 Gene

Orthologs for ASCL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASCL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASCL2 31 30
  • 98.96 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ASCL2 31 30
  • 84.97 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ASCL2 31 30
  • 84.46 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ascl2 17 31 30
  • 77.2 (n)
rat
(Rattus norvegicus)
Mammalia Ascl2 30
  • 76.04 (n)
chicken
(Gallus gallus)
Aves ASCL2 30
  • 66.22 (n)
gga-mir-6642 31
  • 55 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea hlh-6 31
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 16 (a)
OneToMany
Species where no ortholog for ASCL2 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • zebrafish (Danio rerio)

Evolution for ASCL2 Gene

ENSEMBL:
Gene Tree for ASCL2 (if available)
TreeFam:
Gene Tree for ASCL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASCL2: view image

Paralogs for ASCL2 Gene

Paralogs for ASCL2 Gene

(3) SIMAP similar genes for ASCL2 Gene using alignment to 1 proteins:

  • ASCL2_HUMAN
genes like me logo Genes that share paralogs with ASCL2: view

Variants for ASCL2 Gene

Additional dbSNP identifiers (rs#s) for ASCL2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ASCL2 Gene

Variant ID Type Subtype PubMed ID
nsv467645 CNV gain 19166990
nsv553047 CNV gain 21841781
nsv825708 CNV gain 20364138
nsv951285 CNV deletion 24416366

Variation tolerance for ASCL2 Gene

Gene Damage Index Score: 0.74; 15.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASCL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASCL2

SNP Genotyping and Copy Number Assay Products

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 ASCL2 Gene

Disorders for ASCL2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ASCL2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
beckwith-wiedemann syndrome
  • bws
intracranial berry aneurysm
  • aneurysm, intracranial berry, 1
- elite association - COSMIC cancer census association via MalaCards
Search ASCL2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ASCL2

genes like me logo Genes that share disorders with ASCL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASCL2 Gene

Publications for ASCL2 Gene

  1. The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts. (PMID: 9175731) Alders M … Mannens M (Human molecular genetics 1997) 2 3 4 23 54
  2. The Human Achaete Scute Homolog 2 gene contains two promotors, generating overlapping transcripts and encoding two proteins with different nuclear localization. (PMID: 11440538) Westerman BA … Oudejans CB (Placenta 2001) 3 4 23 54
  3. Genomic cloning and localization to chromosome 11p15.5 of the human achaete-scute homolog 2 (ASCL2). (PMID: 8751384) Miyamoto T … Ishikawa M (Cytogenetics and cell genetics 1996) 3 4 23 54
  4. Detection of HASH2 (ASCL2) gene expression in gestational trophoblastic disease. (PMID: 17165436) Shahib MN … Kato H (The Journal of reproductive medicine 2006) 3 23 54
  5. USF1 and USF2 mediate inhibition of human trophoblast differentiation and CYP19 gene expression by Mash-2 and hypoxia. (PMID: 12917334) Jiang B … Mendelson CR (Molecular and cellular biology 2003) 3 23 54

Products for ASCL2 Gene

Sources for ASCL2 Gene