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

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: mouse all
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Genomic context

Location:: 11p15.5

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (2268498..2270588, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (2357957..2360047, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (2289728..2291818, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Achaete-scute complex-like 2 regulated inflammatory mechanism through Toll-like receptor 4 activating in stomach adenocarcinoma.
Title: Achaete-scute complex-like 2 regulated inflammatory mechanism through Toll-like receptor 4 activating in stomach adenocarcinoma.
TET2-BCLAF1 transcription repression complex epigenetically regulates the expression of colorectal cancer gene Ascl2 via methylation of its promoter.
Title: TET2-BCLAF1 transcription repression complex epigenetically regulates the expression of colorectal cancer gene Ascl2 via methylation of its promoter.
ASCL2 Affects the Efficacy of Immunotherapy in Colon Adenocarcinoma Based on Single-Cell RNA Sequencing Analysis.
Title: ASCL2 Affects the Efficacy of Immunotherapy in Colon Adenocarcinoma Based on Single-Cell RNA Sequencing Analysis.
Potential Mechanism of Immune Evasion Associated with the Master Regulator ASCL2 in Microsatellite Stability in Colorectal Cancer.
Title: Potential Mechanism of Immune Evasion Associated with the Master Regulator ASCL2 in Microsatellite Stability in Colorectal Cancer.
ASCL2 reciprocally controls key trophoblast lineage decisions during hemochorial placenta development.
Title: ASCL2 reciprocally controls key trophoblast lineage decisions during hemochorial placenta development.
High ASCL2 expression is associated with colon cancer.
Title: WiNTRLINC1/ASCL2/c-Myc Axis Characteristics of Colon Cancer with Differentiated Histology at Young Onset and Essential for Cell Viability.
Ascl2 negatively modulates pathogenic Th17cell differentiation via promoting IL-10 production, and alleviates intestinal inflammation.
Title: Ascl2 facilitates IL-10 production in Th17 cells to restrain their pathogenicity in inflammatory bowel disease.
R-spondin1/Wnt activated Ascl2 expression dose-dependently in the CD133(+)CD44(+) colorectal cancer population.
Title: R-spondin1/Wnt-enhanced Ascl2 autoregulation controls the self-renewal of colorectal cancer progenitor cells.
Study uncovers that SMYD3 controls Wnt induced activation of ASCL2 in cancer stem cells (CSCs) by regulating H3K4me3 status. These findings suggest that Wnt signals through a SMYD3-mediated epigenetic switch to promote ASCL2 expression and CSC maintenance in human gastric carcinoma (GC). Overexpression of SMYD3 and ASCL2 are associated with poor prognosis in GC patients.
Title: SMYD3 controls a Wnt-responsive epigenetic switch for ASCL2 activation and cancer stem cell maintenance.
High ASCL2 expression is associated with Drug Resistance in Colorectal Cancer.
Title: Comprehensive Genetic Search to Clarify the Molecular Mechanism of Drug Resistance Identifies ASCL2-LEF1/TSPAN8 Axis in Colorectal Cancer.

Submit: New GeneRIF Correction See all GeneRIFs (30)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ECD15947 (e-PCR)
- UniSTS:296962

ECD23678 (e-PCR)
- UniSTS:304662

stSG548787 (e-PCR)
- UniSTS:461853

ECD19060 (e-PCR)
- UniSTS:300067

ECD04404 (e-PCR)
- UniSTS:285476

PMC180905P1 (e-PCR)
- UniSTS:271666

NoName (e-PCR)
- UniSTS:489785

NoName (e-PCR)
- UniSTS:495215

REN117483 (e-PCR)
- UniSTS:442278

REN117486 (e-PCR)
- UniSTS:442281

REN117487 (e-PCR)
- UniSTS:442282

REN117488 (e-PCR)
- UniSTS:442283

ECD09464 (e-PCR)
- UniSTS:290507

ECD09508 (e-PCR)
- UniSTS:290549

Homology

Homologs of the ASCL2 gene: The ASCL2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and chicken.
Orthologs from Annotation Pipeline: 261 organisms have orthologs with human gene ASCL2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables E-box binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of Schwann cell proliferation	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	PubMed
involved_in placenta development	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in regulation of neurogenesis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
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	PubMed
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

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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.