1. Gene
  2. ASCL2 - achaete-scute family bHLH transcription factor 2 Gene

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

ASCL2 Protein Structure

HLH

HLH: Helix-loop-helix DNA-binding domain (54 - 103)

  • 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

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