Hs02131543_cn

• Gene Symbol: ASCL2
• Assay Reference Genome Location: Chr.11:2269790 on build GRCh38
• Cytoband: 11p15.5

Target Gene Details

• Entrez Gene ID: 430
• Gene Name: achaete-scute family bHLH transcription factor 2
• Gene Aliases: ASH2, HASH2, MASH2, bHLHa45
• Location: Chr.11:2268498-2270952 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ASCL2	NM_005170.2	1	1163	NP_005161.1
	BC057801.1	1	799
	BC136561.1	1	888
	BC136567.1	1	889

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv951285	Chr.11:2256071 - 2310670 on Build GRCh38	Deletion	TSPAN32 C11orf21 ASCL2
nsv553047	Chr.11:1733170 - 2418537 on Build GRCh38	Gain	INS-IGF2 TNNT3 ASCL2 SNORD131 INS MIR7847 C11orf21 MRPL23 LSP1 TRPM5 IGF2-AS LINC01150 MIR483 CD81 SYT8 TH IGF2 MIR4298 LINC01219 TSPAN32 CTSD TSSC4 H19 TNNI2 MIR675 IFITM10 CD81-AS1 MRPL23-AS1 HOTS MIR4686

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

basic helix-loop-helix transcription factor

Gene Ontology Categories:

Process(es)

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 population maintenance
regulation of neurogenesis
spongiotrophoblast differentiation
spongiotrophoblast layer development

Function(s)

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