ASCL2

Achaete-scute family bHLH transcription factor 2
Identifiers
Symbols	ASCL2 ; ASH2; HASH2; MASH2; bHLHa45
External IDs	OMIM: 601886 MGI: 96920 HomoloGene: 3789 GeneCards: ASCL2 Gene
Gene ontology Molecular function • RNA polymerase II core promoter proximal region sequence-specific DNA binding • transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding • transcription factor activity, sequence-specific DNA binding • protein dimerization activity • E-box binding Cellular component • nucleus • cytoplasm Biological process • negative regulation of transcription from RNA polymerase II promoter • response to hypoxia • placenta development • transcription, DNA-templated • regulation of transcription, DNA-templated • negative regulation of Schwann cell proliferation • somatic stem cell maintenance • spongiotrophoblast differentiation • spongiotrophoblast layer development Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	430	17173
Ensembl	ENSG00000183734	ENSMUSG00000009248
UniProt	Q99929	O35885
RefSeq (mRNA)	NM_005170	NM_008554
RefSeq (protein)	NP_005161	NP_032580
Location (UCSC)	Chr 11: 2.27 – 2.27 Mb	Chr 7: 142.97 – 142.97 Mb
PubMed search

Achaete-scute complex homolog 2 (Drosophila), also known as ASCL2, is an imprinted human gene.^[1]

Function

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.^[1]

Interactions

ASCL2 has been shown to interact with NCOA6^[2] and RBBP5.^[2]

References

1. "Entrez Gene: ASCL2 achaete-scute complex homolog 2 (Drosophila)".
2. Goo YH, Sohn YC, Kim DH, Kim SW, Kang MJ, Jung DJ, Kwak E, Barlev NA, Berger SL, Chow VT, Roeder RG, Azorsa DO, Meltzer PS, Suh PG, Song EJ, Lee KJ, Lee YC, Lee JW (Jan 2003). "Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins". Molecular and Cellular Biology 23 (1): 140–9. doi:10.1128/MCB.23.1.140-149.2003. PMC 140670. PMID 12482968.

Further reading

• Miyamoto T, Jinno Y, Sasaki T, Ikeda Y, Masuzaki H, Niikawa N, Ishikawa M (1996). "Genomic cloning and localization to chromosome 11p15.5 of the human achaete-scute homolog 2 (ASCL2)". Cytogenetics and Cell Genetics 73 (4): 312–4. doi:10.1159/000134364. PMID 8751384.
• Alders M, Hodges M, Hadjantonakis AK, Postmus J, van Wijk I, Bliek J, de Meulemeester M, Westerveld A, Guillemot F, Oudejans C, Little P, Mannens M (Jun 1997). "The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts". Human Molecular Genetics 6 (6): 859–67. doi:10.1093/hmg/6.6.859. PMID 9175731.
• Miyamoto T, Jinno Y, Miura K, Sengoku K, Soejima H, Yun K, Yaginuma Y, Niikawa N, Ishikawa M (1998). "A SacII polymorphism in the human ASCL2 (HASH2) gene region". Journal of Human Genetics 43 (1): 69–70. doi:10.1007/s100380050041. PMID 9610003.
• Onions J, Hermann S, Grundström T (Apr 2000). "A novel type of calmodulin interaction in the inhibition of basic helix-loop-helix transcription factors". Biochemistry 39 (15): 4366–74. doi:10.1021/bi992533u. PMID 10757985.
• Westerman BA, Poutsma A, Looijenga LH, Wouters D, van Wijk IJ, Oudejans CB (Jul 2001). "The Human Achaete Scute Homolog 2 gene contains two promotors, generating overlapping transcripts and encoding two proteins with different nuclear localization". Placenta 22 (6): 511–8. doi:10.1053/plac.2001.0695. PMID 11440538.
• Miyamoto T, Hasuike S, Jinno Y, Soejima H, Yun K, Miura K, Ishikawa M, Niikawa N (May 2002). "The human ASCL2 gene escaping genomic imprinting and its expression pattern". Journal of Assisted Reproduction and Genetics 19 (5): 240–4. doi:10.1023/A:1015362903486. PMC 3468234. PMID 12099555.
• Goo YH, Sohn YC, Kim DH, Kim SW, Kang MJ, Jung DJ, Kwak E, Barlev NA, Berger SL, Chow VT, Roeder RG, Azorsa DO, Meltzer PS, Suh PG, Song EJ, Lee KJ, Lee YC, Lee JW (Jan 2003). "Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins". Molecular and Cellular Biology 23 (1): 140–9. doi:10.1128/MCB.23.1.140-149.2003. PMC 140670. PMID 12482968.
• Jiang B, Mendelson CR (Sep 2003). "USF1 and USF2 mediate inhibition of human trophoblast differentiation and CYP19 gene expression by Mash-2 and hypoxia". Molecular and Cellular Biology 23 (17): 6117–28. doi:10.1128/MCB.23.17.6117-6128.2003. PMC 180905. PMID 12917334.
• Koide S, Yoshida I, Tsuji A, Matsuda Y (Sep 2003). "The expression of proprotein convertase PACE4 is highly regulated by Hash-2 in placenta: possible role of placenta-specific basic helix-loop-helix transcription factor, human achaete-scute homologue-2". Journal of Biochemistry 134 (3): 433–40. doi:10.1093/jb/mvg161. PMID 14561729.
• Jubb AM, Chalasani S, Frantz GD, Smits R, Grabsch HI, Kavi V, Maughan NJ, Hillan KJ, Quirke P, Koeppen H (Jun 2006). "Achaete-scute like 2 (ascl2) is a target of Wnt signalling and is upregulated in intestinal neoplasia". Oncogene 25 (24): 3445–57. doi:10.1038/sj.onc.1209382. PMID 16568095.
• Shahib MN, Martaadisoebrata D, Kato H (Nov 2006). "Detection of HASH2 (ASCL2) gene expression in gestational trophoblastic disease". The Journal of Reproductive Medicine 51 (11): 892–6. PMID 17165436.