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

Gene ID: 430, updated on 4-Jan-2025

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
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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

General gene information

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in T follicular helper cell differentiation  
involved_in chorionic trophoblast cell development  
involved_in negative regulation of Schwann cell proliferation  
involved_in negative regulation of T-helper 1 cell differentiation  
involved_in negative regulation of T-helper 17 cell differentiation  
involved_in negative regulation of T-helper 2 cell differentiation  
involved_in negative regulation of transcription by RNA polymerase II PubMed 
involved_in neuron differentiation  
involved_in placenta development PubMed 
involved_in positive regulation of T cell migration  
involved_in positive regulation of transcription by RNA polymerase II  
involved_in regulation of neurogenesis  
involved_in response to hypoxia PubMed 
involved_in sensory organ development  
involved_in somatic stem cell population maintenance  
involved_in spongiotrophoblast layer development PubMed 
Component Evidence Code Pubs
part_of RNA polymerase II transcription regulator complex  
located_in chromatin  
located_in cytoplasm PubMed 
located_in nucleus 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)

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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)
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