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Aliases for ASCL2 Gene

Aliases for ASCL2 Gene

  • Achaete-Scute Family BHLH Transcription Factor 2 2 3 5
  • Class A Basic Helix-Loop-Helix Protein 45 3 4
  • BHLHa45 3 4
  • MASH2 3 4
  • ASH-2 3 4
  • HASH2 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
  • 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. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Human Early Embryo Development. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is ASCL4.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASCL2 Gene

Genomics for ASCL2 Gene

Regulatory Elements for ASCL2 Gene

Enhancers for ASCL2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ASCL2 on UCSC Golden Path with GeneCards custom track

Promoters for ASCL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ASCL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ASCL2 Gene

Chromosome:
11
Start:
2,268,495 bp from pter
End:
2,270,952 bp from pter
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

Proteomics data for ASCL2 Gene at MOPED

Post-translational modifications for ASCL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASCL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ASCL2 Gene

Domains & Families for ASCL2 Gene

Gene Families for ASCL2 Gene

Protein Domains for ASCL2 Gene

Suggested Antigen Peptide Sequences for ASCL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99929

UniProtKB/Swiss-Prot:

ASCL2_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
genes like me logo Genes that share domains with ASCL2: view

Function for ASCL2 Gene

Molecular function for ASCL2 Gene

GENATLAS Biochemistry:
Drosophila achaete-scute homolog 2,expressed in extravillus trophoblast,paternally imprinted,telomeric imprinting domain at 11p15,containing ASCL2,IGF2,H19
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.

Gene Ontology (GO) - Molecular Function for ASCL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 14561729
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

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
Jensen Localization Image for ASCL2 Gene COMPARTMENTS Subcellular localization image for ASCL2 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for ASCL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0090575 RNA polymerase II transcription factor complex IBA --
genes like me logo Genes that share ontologies with ASCL2: view

Pathways & Interactions for ASCL2 Gene

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

Pathways by source for ASCL2 Gene

Gene Ontology (GO) - Biological Process for ASCL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 14561729
GO:0001666 response to hypoxia IEP 14561729
GO:0006355 regulation of transcription, DNA-templated NAS 8751384
GO:0030154 cell differentiation IEA --
GO:0035019 somatic stem cell population maintenance IEA --
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) Additional mRNA sequences :
(41) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ASCL2 Gene

Achaete-scute complex homolog 2 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ASCL2 Gene

No ASD Table

Relevant External Links for ASCL2 Gene

GeneLoc Exon Structure for
ASCL2
ECgene alternative splicing isoforms for
ASCL2

Expression for ASCL2 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for ASCL2 Gene



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.
genes like me logo Genes that share expression patterns with ASCL2: view

Primer Products

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia ASCL2 35
  • 84.46 (n)
  • 86.52 (a)
ASCL2 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASCL2 35
  • 84.97 (n)
  • 84.97 (a)
ASCL2 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ascl2 35
  • 77.2 (n)
  • 73.06 (a)
Ascl2 16
Ascl2 36
  • 47 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ASCL2 35
  • 98.96 (n)
  • 98.96 (a)
ASCL2 36
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ascl2 35
  • 76.04 (n)
  • 70.31 (a)
chicken
(Gallus gallus)
Aves ASCL2 35
  • 66.22 (n)
  • 67.33 (a)
gga-mir-6642 36
  • 55 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea hlh-6 36
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 16 (a)
OneToMany
Species with no ortholog for ASCL2:
  • 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)

Paralogs for ASCL2 Gene

Paralogs for ASCL2 Gene

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

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

Variants for ASCL2 Gene

Sequence variations from dbSNP and Humsavar for ASCL2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs968528 -- 2,270,752(+) GCATG(A/T)CCCCC utr-variant-5-prime
rs2072072 -- 2,268,966(+) CACCG(C/G)GGCAT utr-variant-3-prime
rs7121377 -- 2,272,224(+) GTGTC(C/T)CGAGT upstream-variant-2KB
rs7126721 -- 2,270,485(+) AGGTC(G/T)TCTGG utr-variant-5-prime
rs7924540 -- 2,271,503(+) GCCCC(C/G)GGCCT upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv467645 CNV Gain 19166990
nsv896776 CNV Loss 21882294
nsv896801 CNV Loss 21882294
nsv825708 CNV Gain 20364138

Variation tolerance for ASCL2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ASCL2 Gene

Disorders for ASCL2 Gene

MalaCards: The human disease database

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

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

Relevant External Links for ASCL2

Genetic Association Database (GAD)
ASCL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Hum. Mol. Genet. 1997) 2 3 4 23 67
  2. Detection of HASH2 (ASCL2) gene expression in gestational trophoblastic disease. (PMID: 17165436) Shahib M.N. … Kato H. (J Reprod Med 2006) 3 23
  3. USF1 and USF2 mediate inhibition of human trophoblast differentiation and CYP19 gene expression by Mash-2 and hypoxia. (PMID: 12917334) Jiang B. … Mendelson C.R. (Mol. Cell. Biol. 2003) 3 23
  4. The human Achaete Scute homolog 2 gene contains two promotors, generating overlapping transcripts and encoding two proteins with different nuclear localization. (PMID: 11440538) Westerman B.A. … Oudejans C.B. (Placenta 2001) 3 23
  5. A SacII polymorphism in the human ASCL2 (HASH2) gene region. (PMID: 9610003) Miyamoto T. … Ishikawa M. (J. Hum. Genet. 1998) 3 23

Products for ASCL2 Gene

Sources for ASCL2 Gene

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