U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    ASCL2 achaete-scute family bHLH transcription factor 2 [ Homo sapiens (human) ]

    Gene ID: 430, updated on 27-Nov-2024

    Summary

    Official Symbol
    ASCL2provided by HGNC
    Official Full Name
    achaete-scute family bHLH transcription factor 2provided by HGNC
    Primary source
    HGNC:HGNC:739
    See related
    Ensembl:ENSG00000183734 MIM:601886; AllianceGenome:HGNC:739
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ASH2; HASH2; MASH2; bHLHa45
    Summary
    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]
    Expression
    Broad expression in colon (RPKM 4.3), placenta (RPKM 2.5) and 14 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ASCL2 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (2268498..2270588, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (2357957..2360047, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2289728..2291818, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2198066-2198912 Neighboring gene microRNA 4686 Neighboring gene tyrosine hydroxylase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2225905-2226503 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2233643-2234213 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2235935-2236495 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:2244593-2245167 Neighboring gene Sharpr-MPRA regulatory region 3604 Neighboring gene chromosome 11 open reading frame 21 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2327147-2327814 Neighboring gene tetraspanin 32 Neighboring gene uncharacterized LOC124902612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2333788-2334393

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in T follicular helper cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chorionic trophoblast cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of Schwann cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of T-helper 1 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of T-helper 17 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of T-helper 2 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in placenta development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of T cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of neurogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to hypoxia IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in sensory organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in somatic stem cell population maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spongiotrophoblast layer development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    achaete-scute homolog 2
    Names
    achaete-scute complex homolog 2
    achaete-scute complex-like 2
    class A basic helix-loop-helix protein 45
    mammalian achaete/scute homologue 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_005170.3NP_005161.1  achaete-scute homolog 2

      See identical proteins and their annotated locations for NP_005161.1

      Status: VALIDATED

      Source sequence(s)
      AC129929
      Consensus CDS
      CCDS7732.1
      UniProtKB/Swiss-Prot
      Q6PEY9, Q99929, Q9UM68
      Related
      ENSP00000332293.4, ENST00000331289.5
      Conserved Domains (1) summary
      smart00353
      Location:66108
      HLH; helix loop helix domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      2268498..2270588 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      2357957..2360047 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)