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

Gene ID: 430, updated on 21-Dec-2019

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
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

Genomic context

See ASCL2 in Genome Data Viewer
Location:
11p15.5
Exon count:
2
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (2268498..2270952, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2289728..2292182, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene insulin repeat instability region Neighboring gene microRNA 4686 Neighboring gene tyrosine hydroxylase Neighboring gene chromosome 11 open reading frame 21 Neighboring gene tetraspanin 32 Neighboring gene RNA, U6 small nuclear 878, pseudogene

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
negative regulation of Schwann cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
placenta development NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of neurogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
response to hypoxia IEP
Inferred from Expression Pattern
more info
PubMed 
sensory organ development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
somatic stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
spongiotrophoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
spongiotrophoblast layer development IEP
Inferred from Expression Pattern
more info
PubMed 
transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
RNA polymerase II transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
achaete-scute homolog 2
Names
ASH-2
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)

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_005170.2NP_005161.1  achaete-scute homolog 2

    See identical proteins and their annotated locations for NP_005161.1

    Status: VALIDATED

    Source sequence(s)
    BC028140, BC057801
    Consensus CDS
    CCDS7732.1
    UniProtKB/Swiss-Prot
    Q99929
    Related
    ENSP00000332293.4, ENST00000331289.4
    Conserved Domains (1) summary
    smart00353
    Location:66108
    HLH; helix loop helix domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    2268498..2270952 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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