Hs04584818_cn

• Gene Symbol: TWIST2
• Assay Reference Genome Location: Chr.2:238880031 on build GRCh38
• Cytoband: 2q37.3

Target Gene Details

• Entrez Gene ID: 117581
• Gene Name: twist family bHLH transcription factor 2
• Gene Aliases: AMS, BBRSAY, DERMO1, FFDD3, SETLSS, bHLHa39
• Location: Chr.2:238848032-238910548 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TWIST2	NM_001271893.3			NP_001258822.1
	NM_057179.2			NP_476527.1
	AW072674.1
	BC017907.1			AAH17907.1
	BC033168.1			AAH33168.1
	BC103755.1			AAI03756.1
	BU615717.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1150738	Chr.2:238879858 - 238882559 on Build GRCh38	Duplication	TWIST2
nsv1077382	Chr.2:238878958 - 238881759 on Build GRCh38	Duplication	TWIST2
nsv1128824	Chr.2:238879159 - 238881559 on Build GRCh38	Duplication	TWIST2
esv3594773	Chr.2:238869973 - 238892363 on Build GRCh38	Gain	TWIST2
esv2330809	Chr.2:238880032 - 238880978 on Build GRCh38	Deletion	TWIST2

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

basic helix-loop-helix transcription factor

Gene Ontology Categories:

Process(es)

transcription, DNA-templated
multicellular organism development
cell differentiation
negative regulation of apoptotic process
negative regulation of osteoblast differentiation
negative regulation of transcription, DNA-templated

Function(s)

DNA binding
protein binding
protein dimerization activity