Hs01168218_cn

• Gene Symbol: CAMTA2
• Assay Reference Genome Location: Chr.17:4988135 on build GRCh38
• Cytoband: 17p13.2

Target Gene Details

• Entrez Gene ID: 23125
• Gene Name: calmodulin binding transcription activator 2
• Gene Aliases: -
• Location: Chr.17:4967992-4988297 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CAMTA2	XM_006721478.3	1	163	XP_006721541.1
	XM_006721481.3	1	163	XP_006721544.1

Target Gene Details

• Entrez Gene ID: 388324
• Gene Name: inhibitor of CDK, cyclin A1 interacting protein 1
• Gene Aliases: HSD45
• Location: Chr.17:4988130-4997933 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
INCA1	NM_001167985.1			NP_001161457.1
	NM_001167986.1			NP_001161458.1
	NM_001167987.1			NP_001161459.1
	NM_213726.2			NP_998891.2
	XM_005256627.3			XP_005256684.1
	XM_005256628.4			XP_005256685.1
	XM_005256629.1			XP_005256686.1
	XM_006721517.1			XP_006721580.1
	XM_006721518.2			XP_006721581.1
	XM_006721519.3			XP_006721582.1
	XM_011523832.2			XP_011522134.1
	AY601906.1			AAT09152.1
	AY601907.1			AAT09153.1
	AY604176.1			AAT36739.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833350	Chr.17:4884713 - 5060776 on Build GRCh38	Loss	LOC102724009 MINK1 KIF1C RNF167 SPAG7 C17orf107 INCA1 SLC52A1 LOC101927979 CHRNE ENO3 SLC25A11 MIR6865 MIR6864 CAMTA2 GP1BA PFN1
nsv833349	Chr.17:4853631 - 4991300 on Build GRCh38	Loss	MINK1 RNF167 SPAG7 C17orf107 INCA1 LOC101927979 CHRNE ENO3 SLC25A11 MIR6865 MIR6864 CAMTA2 GP1BA PFN1
nsv574273	Chr.17:4585589 - 5460332 on Build GRCh38	Gain	USP6 C1QBP LOC107984973 MINK1 RPAIN TM4SF5 ZFP3 KIF1C ARRB2 GLTPD2 PELP1 INCA1 CXCL16 SLC52A1 ZNF232 NUP88 LOC100130950 SMTNL2 MIR6864 LOC101559451 CAMTA2 LOC101928000 ZMYND15 PFN1 LOC102724009 RNF167 RABEP1 PLD2 SPAG7 ZNF594 MED11 C17orf107 SCIMP DHX33 ALOX15 LOC101927979 CHRNE ENO3 PSMB6 SLC25A11 MIR6865 GP1BA LOC400568 VMO1
dgv5431n54	Chr.17:4975665 - 5051911 on Build GRCh38	Loss	LOC101927979 LOC102724009 KIF1C CAMTA2 INCA1 SLC52A1

More Information

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

Panther Classification:

Molecular Function -

DNA-binding transcription factor

Gene Ontology Categories:

Process(es)

regulation of transcription from RNA polymerase II promoter
transcription from RNA polymerase II promoter
cardiac muscle hypertrophy in response to stress
positive regulation of transcription from RNA polymerase II promoter
negative regulation of cell proliferation
negative regulation of cyclin-dependent protein serine/threonine kinase activity
positive regulation of apoptotic signaling pathway

Function(s)

transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
chromatin binding
protein binding
transcription factor binding
histone deacetylase binding
sequence-specific DNA binding
cyclin-dependent protein serine/threonine kinase inhibitor activity
cyclin binding