ASCL2

ASCL2
Identifiers
Aliases	ASCL2, ASH2, HASH2, MASH2, bHLHa45, achaete-scute family bHLH transcription factor 2
External IDs	OMIM: 601886; MGI: 96920; HomoloGene: 3789; GeneCards: ASCL2; OMA:ASCL2 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) Band 11p15.5 Start 2,268,498 bp End 2,270,588 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7 F5|7 88.08 cM Start 142,520,566 bp End 142,523,001 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in granulocyte parotid gland decidua monocyte testicle gingival epithelium mucosa of transverse colon palpebral conjunctiva mucosa of ileum blood Top expressed in trophoblast cell chorion Paneth cell rib lacrimal gland embryo female urethra basisphenoid granulocyte hair More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding protein dimerization activity RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific E-box binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor binding Cellular component nucleus RNA polymerase II transcription regulator complex cytoplasm Biological process cell differentiation spongiotrophoblast layer development response to hypoxia regulation of transcription, DNA-templated regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II transcription, DNA-templated nervous system development multicellular organism development regulation of neurogenesis in utero embryonic development placenta development negative regulation of Schwann cell proliferation somatic stem cell population maintenance spongiotrophoblast differentiation sensory organ development neuron differentiation positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
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: 142.52 – 142.52 Mb PubMed search
Wikidata
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Achaete-scute complex homolog 2 (Drosophila), also known as ASCL2, is an imprinted human gene.

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.

Interactions

ASCL2 has been shown to interact with NCOA6 and RBBP5.

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.