Hs04655713_cn

• Gene Symbol: GLI2
• Assay Reference Genome Location: Chr.2:120803101 on build GRCh38
• Cytoband: 2q14.2

Target Gene Details

• Entrez Gene ID: 2736
• Gene Name: GLI family zinc finger 2
• Gene Aliases: CJS, HPE9, PHS2, THP1, THP2
• Location: Chr.2:120797291-120992653 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GLI2	NM_005270.4			NP_005261.2
	XM_006712422.2			XP_006712485.1
	XM_011510973.2			XP_011509275.1
	XM_011510974.2			XP_011509276.1
	AB007295.1			BAA25665.1
	AB007296.1			BAA25666.1
	AB007297.1			BAA25667.1
	AB007298.1			BAA25668.1
	AK300071.1
	AY493737.1			AAS72889.1
	AY493738.1			AAS72890.1
	AY493739.1			AAS72891.1
	BC111410.1
	D14827.1			BAA03568.1
	D14828.1			BAA03569.1
	DQ004396.1			AAY58315.1
	DQ004397.1			AAY58316.1
	DQ004398.1			AAY58317.1
	DQ086814.1			AAY87165.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3592180	Chr.2:120485127 - 121067968 on Build GRCh38	Gain	GLI2
nsv834349	Chr.2:120765954 - 120967915 on Build GRCh38	Loss	GLI2
nsv834348	Chr.2:120632010 - 120828123 on Build GRCh38	Gain	GLI2
nsv582798	Chr.2:120552693 - 121587495 on Build GRCh38	Loss	TFCP2L1 GLI2 RNU4ATAC CLASP1

More Information

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

Panther Classification:

Molecular Function -

DNA-binding transcription factor

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
skeletal system development
in utero embryonic development
kidney development
chondrocyte differentiation
osteoblast development
transcription from RNA polymerase II promoter
smoothened signaling pathway
pattern specification process
axon guidance
ventral midline development
hindgut morphogenesis
heart development
cell proliferation
regulation of smoothened signaling pathway
response to mechanical stimulus
anterior/posterior pattern specification
proximal/distal pattern formation
floor plate formation
spinal cord dorsal/ventral patterning
ventral spinal cord development
cerebellar cortex morphogenesis
smoothened signaling pathway involved in ventral spinal cord interneuron specification
smoothened signaling pathway involved in spinal cord motor neuron cell fate specification
smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation
spinal cord ventral commissure morphogenesis
pituitary gland development
lung development
mammary gland development
hindbrain development
negative regulation of chondrocyte differentiation
positive regulation of T cell differentiation in thymus
tube development
odontogenesis of dentin-containing tooth
embryonic digit morphogenesis
negative regulation of apoptotic process
positive regulation of neuron differentiation
positive regulation of DNA replication
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
embryonic digestive tract development
developmental growth
neuron development
branching morphogenesis of an epithelial tube
notochord regression
prostatic bud formation
mammary gland duct morphogenesis
smoothened signaling pathway involved in dorsal/ventral neural tube patterning
cellular response to organic cyclic compound
cochlea morphogenesis

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
chromatin binding
transcription factor activity, sequence-specific DNA binding
protein binding
zinc ion binding
sequence-specific DNA binding