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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ASCL2 Gene

protein-coding   GIFtS: 55
GCID: GC11M002289

achaete-scute complex homolog 2 (Drosophila)

(Previous names: achaete-scute complex (Drosophila) homolog-like 2, achaete-scute...)
 Explore 5 diseases affiliated with
ASCL2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ASCL2    

Aliases
for ASCL2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Achaete-Scute Complex Homolog 2 (Drosophila)1 2     MASH22
HASH21 2 3     Achaete-Scute Complex-Like 22
BHLHa451     Achaete-Scute Homolog 22
ASH21 2     Mammalian Achaete/Scute Homologue 22
Class A Basic Helix-Loop-Helix Protein 452 3     BHLHA453
ASH-22 3     Mash23
Achaete-Scute Complex (Drosophila) Homolog-Like 21     HASH21 2 3
Achaete-Scute Complex-Like 2 (Drosophila)1     

External Ids:    HGNC: 7391   Entrez Gene: 4302   Ensembl: ENSG000001837347   OMIM: 6018865   UniProtKB: Q999293   

Export aliases for ASCL2 gene to outside databases

Previous GC identifers: GC11P002271 GC11M002491 GC11M002249 GC11M002254 GC11M002246 GC11M002079


Summaries
for ASCL2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ASCL2:
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)

UniProtKB/Swiss-Prot: ASCL2_HUMAN, Q99929
Function: 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


Genomic Views
for ASCL2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ASCL2 gene promoter:
         AhR   USF1   RREB-1   p300   Bach2   USF2   USF-1:USF-2   Arnt   CREB   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ASCL2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ASCL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASCL2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

ASCL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASCL2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M002289:  view genomic region     (about GC identifiers)

Start:
 2,289,725 bp from pter      End:
 2,292,182 bp from pter
Size:
 2,458 bases      Orientation:
 minus strand

Proteins
for ASCL2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ASCL2_HUMAN, Q99929 (See protein sequence)
Recommended Name: Achaete-scute homolog 2  
Size: 193 amino acids; 20185 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein
Subcellular location: Nucleus
Secondary accessions: Q6PEY9 Q9UM68

Explore the universe of human proteins at neXtProt for ASCL2: NX_Q99929

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99929

    • ASCL2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005161.1  
    ENSEMBL proteins: 
     ENSP00000332293  

    Human Recombinant Protein Products: 
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    Uscn Proteins for ASCL2

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS8751384
    GO:0005737cytoplasm IDA12917334


    ASCL2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ASCL2

    Protein Domains /
    Families
    for ASCL2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ASCL2 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR015660 ASH
     IPR011598 HLH_dom

    Graphical View of Domain Structure for InterPro Entry Q99929

    ProtoNet protein and cluster: Q99929

    1 Blocks protein family: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: ASCL2_HUMAN, Q99929
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    Function
    for ASCL2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: ASCL2_HUMAN, Q99929
    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 entry for ASCL2:
    Drosophila achaete-scute homolog 2,expressed in extravillus trophoblast,paternally imprinted,telomeric imprinting
    domain at 11p15,containing ASCL2,IGF2,H19

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: ASCL2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity NAS8751384
    GO:0043565sequence-specific DNA binding IEA--
    GO:0046983protein dimerization activity IEA--
    GO:0070888E-box binding IDA14561729


    ASCL2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ASCL2:
     Decreased viability of wild-ty 

    Animal Models:
         9 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Ascl2):
     cardiovascular system  cellular  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     homeostasis/metabolism  mortality/aging  no phenotypic analysis  normal 

    ASCL2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ASCL2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Human Early Embryo Development
    		Human Early Embryo Development1.00

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ASCL2
        Human Early Embryo Development


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ASCL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/10 Interacting proteins for ASCL2 (Q999293 ENSP000003322934) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=3 STRING: ENSP00000349467
    CALM2P621583I2D: score=3 
    CALM3P621583I2D: score=3 
    HCFC1P516103, ENSP000003095554I2D: score=1 STRING: ENSP00000309555
    MLL3Q8NEZ43, ENSP000002621894I2D: score=1 STRING: ENSP00000262189
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA14561729
    GO:0001666response to hypoxia IEP14561729
    GO:0001701in utero embryonic development ----
    GO:0001890placenta development NAS14561729
    GO:0006351transcription, DNA-dependent IDA14561729


    ASCL2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ASCL2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ASCL2
    Search CenterWatch for drugs/clinical trials and news about ASCL2 

    Transcripts
    for ASCL2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ASCL2 gene: 
    NM_005170.2  

    Unigene Cluster for ASCL2:

    Achaete-scute complex homolog 2 (Drosophila)
    Hs.152475  [show with all ESTs]
    Unigene Representative Sequence: NM_005170
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000331289(uc001lvu.3)

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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ASCL2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ASCL2

    Additional cDNA sequence: 

    BC028140.1 BC057801.1 BC136561.1 BC136567.1 

    3 DOTS entries:

    DT.433595  DT.100692217  DT.97777710 

    24/41 AceView cDNA sequences (see all 41):

    BC028140 BC057801 NM_005170 BX114633 CA432756 AI337448 CR603858 AI393930 
    AI337239 AW083899 BX339751 BX458875 BX434280 AA565767 BX387740 C00634 
    BX339752 BX366756 AA468668 AA565752 AA565766 BM856944 BM311314 BI908780 

    GeneLoc Exon Structure


    Expression
    for ASCL2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ASCL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGGCCAAGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ASCL2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    PlacentaChorion FrondosumPrimitive Cytotrophoblast CellsExtraembryonic Tissues, Placenta
    PlacentaColumn Cytotrophoblast LayerColumn Cytotrophoblast CellsExtraembryonic Tissues, Placenta
    TrophoblastExtraembryonic EctodermExtraembryonic Ectoderm CellsExtraembryonic Tissues, Placenta
    PlacentaChorion FrondosumPrimitive Syncytiotrophoblast CellsExtraembryonic Tissues, Placenta
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ASCL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ASCL2

    SOURCE GeneReport for Unigene cluster: Hs.152475

    UniProtKB/Swiss-Prot: ASCL2_HUMAN, Q99929
    Tissue specificity: Expressed specifically in the extravillous trophoblasts of the developing placenta

        SABiosciences Expression via Pathway-Focused PCR Array including ASCL2: 
              Stem Cells in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for ASCL2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for ASCL2 gene from 3/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ASCL21 achaete-scute complex homolog 2 (Drosophila) 67.27(n)
    68.07(a)    		   395791  XM_003641355.1  XP_003641403.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii ascl1b6
    		 achaete-scute complex-like 1b (Drosophila)
    		 45(a)
    		 1 ↔ 1
    		 7(51172738-51174183)
    fruit fly
    (Drosophila melanogaster)    		 Insecta ac6
    l(1)sc6
    (see all 4)    		 lethal of scute
    (see all 4)    		 23(a)
    23(a)
    (see all 4)    		 many ↔ many
    many ↔ many
    (see all 4)    		 X(264064-264980)
    X(303756-304850)


    ENSEMBL Gene Tree for ASCL2 (if available)
    TreeFam Gene Tree for ASCL2 (if available) 

    Paralogs
    for ASCL2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ASCL2 gene
    ASCL32  ASCL12  ASCL42  
    3 SIMAP similar genes for ASCL2 using alignment to 1 protein entry:     ASCL2_HUMAN:
    ASCL1    ASCL4    TAL2

    ASCL2 for paralogs           About GeneDecksing



    Genomic Variants
    for ASCL2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/58 NCBI SNPs in ASCL2 are shown (see all 58)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1813307601,2
    		--2289354(+) GCCACA/GTTAGT 1 -- int10--------
    rs1383014311,2
    		--2289371(+) CTGAGC/TGTGGT 1 -- int10--------
    rs1127204601,2
    		C,--2289398(+) CATGCC/ACTCAG 1 -- int11Minor allele frequency- A:0.50NA 2
    rs2003926271,2
    		C--2289408(+) GCCCCA/CCNNNN 1 -- int10--------
    rs122837891,2
    		C,F,--2289424(+) TCTCTG/AGTCAG 1 -- int16Minor allele frequency- A:0.28NA CSA WA EA 363
    rs1446867941,2
    		C,--2289482(+) TGGGT-/CCACAGCA 1 -- int10--------
    rs342454241,2
    		F--2289483(+) GGTCC-/CACAGCAG 1 -- int15Minor allele frequency- CAC:0.11EU EA NA MN 430
    rs1140370201,2
    		--2289503(+) TGCAGC/TTTCCA 1 -- int11Minor allele frequency- T:0.01WA 118
    rs790303621,2
    		--2289521(+) GAGTAG/TCCCTG 1 -- int12Minor allele frequency- T:0.19CSA WA 120
    rs1867124441,2
    		--2289645(+) CCCTAC/TGGAGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for ASCL2 (2289725 - 2292182 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ASCL2: --

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for ASCL2

    Disorders / Diseases
    for ASCL2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ASCL2 for disorders           About GeneDecksing

    OMIM gene information: 601886    OMIM disorders: --

    5 diseases for ASCL2:    About MalaCards
    beckwith-wiedemann syndrome    neuronitis    choriocarcinoma    colorectal cancer
    hypoxia

    1 disease from the University of Copenhagen DISEASES database for ASCL2:
    Beckwith-Wiedemann syndrome

    2 Novoseek disease relationships for ASCL2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    choriocarcinoma 50.7 1 11043580 (1)
    cancer 0 2 17165436 (1)


    Export disorders for ASCL2 gene to outside databases

    Publications
    for ASCL2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ASCL2 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with ASCL2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts. (PubMed id 9175731)1, 2, 3, 9 Alders M.... Mannens M. (1997)
    2. The human Achaete Scute homolog 2 gene contains two promotors, generating overlapping transcripts and encoding two proteins with different nuclear localization. (PubMed id 11440538)1, 2, 9 Westerman B.A....Oudejans C.B. (2001)
    3. Genomic cloning and localization to chromosome 11p15.5 of the human achaete-scute homolog 2 (ASCL2). (PubMed id 8751384)1, 2, 9 Miyamoto T....Ishikawa M. (1996)
    4. Detection of HASH2 (ASCL2) gene expression in gestational trophoblastic disease. (PubMed id 17165436)1, 9 Shahib M.N....Kato H. (2006)
    5. USF1 and USF2 mediate inhibition of human trophoblast differentiation and CYP19 gene expression by Mash-2 and hypoxia. (PubMed id 12917334)1, 9 Jiang B. and Mendelson C.R. (2003)
    6. A SacII polymorphism in the human ASCL2 (HASH2) gene region. (PubMed id 9610003)1, 9 Miyamoto T....Ishikawa M. (1998)
    7. Ascl2 knockdown results in tumor growth arrest by miRN A-302b-related inhibition of colon cancer progenitor cells. (PubMed id 22384170)1 Zhu R....Wang R. (2012)
    8. Expression of an ASCL2 related stem cell signature an d IGF2 in colorectal cancer liver metastases with 11p15.5 gain. (PubMed id 20479215)1 Stange D.E....Radlwimmer B. (2010)
    9. Achaete-scute like 2 (ascl2) is a target of Wnt signalling and is upregulated in intestinal neoplasia. (PubMed id 16568095)1 Jubb A.M....Koeppen H. (2006)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)

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    Entrez Gene: 430 HGNC: 739 AceView: ASCL2 Ensembl:ENSG00000183734 euGenes: HUgn430
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