ASCL2 - achaete-scute family bHLH transcription factor 2 Gene

Homo sapiens

Also known as ASH2; HASH2; MASH2; bHLHa45

Gene ID: 430 | Gene type: protein coding

About ASCL2

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:2,268,498-2,270,588 (from NCBI)

This gene has 1 transcript (splice variant), 255 orthologues and 4 paralogues. Broad expression in colon (RPKM 4.3), placenta (RPKM 2.5) and 14 other tissues.

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]

ASCL2 Products(1)

mRNA	Protein	Name
NM_005170.3	NP_005161.1	achaete-scute homolog 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	14561729	GOA
enables E-box binding	IDA IDA: Inferred from direct assay	14561729	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	14561729	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	14561729	GOA
involved in response to hypoxia	IEP IEP: Inferred from expression pattern	14561729	GOA
involved in spongiotrophoblast layer development	IEP IEP: Inferred from expression pattern	12917334	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	12917334	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11440538	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ASCL2 Protein Structure

HLH

0
100
193 a.a.

Protein Preferred Names

Protein Names

achaete-scute homolog 2

achaete-scute complex homolog 2

Related Diseases

Diseases

Alias

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome	BWS
Exomphalos-Macroglossia-Gigantism Syndrome	Emg Syndrome
Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation	Emg Abnormality
Wbs	Exomphalos Macroglossia Gigantism Syndrome
Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation	Macroglossia Exomphalos Gigantism

Colonic Benign Neoplasm

Colon Neoplasm	Colonic Mass
Colonic Tumor	Neoplasm Of Colon
Neoplasm Of The Colon	Colonic Neoplasms
Colon Cancer	Colon Carcinoma Nos
Colonic Cancer	Metastatic Colon Cancer Nos

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01079	ASCL2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ASCL2	VGNC	VGNC:38174
Bos taurus	ASCL2	VGNC	VGNC:26207
Felis catus	ASCL2	VGNC	VGNC:68332
Mus musculus	ASCL2	MGD	MGI:96920
Rattus norvegicus	ASCL2	RGD	RGD:2159
Macaca mulatta	ASCL2	VGNC	VGNC:70030

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