Hs02327358_cn

• Gene Symbol: CAMTA2
• Assay Reference Genome Location: Chr.17:4988286 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: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CAMTA2	XM_006721478.3			XP_006721541.1
	XM_006721481.3			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: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
INCA1	NM_001167985.1	8	1065	NP_001161457.1
	NM_001167986.1	9	1397	NP_001161458.1
	NM_001167987.1	8	1110	NP_001161459.1
	NM_213726.2	8	1227	NP_998891.2
	XM_005256627.3	7	1305	XP_005256684.1
	XM_005256628.4	7	1502	XP_005256685.1
	XM_005256629.1	7	1312	XP_005256686.1
	XM_006721517.1	7	1357	XP_006721580.1
	XM_006721518.2	7	1261	XP_006721581.1
	XM_006721519.3	7	1458	XP_006721582.1
	XM_011523832.2	8	1627	XP_011522134.1
	AY601906.1	8	1227	AAT09152.1
	AY601907.1	8	1065	AAT09153.1
	AY604176.1	6	785	AAT36739.1
	BC119781.1	8	1186
	BC122873.1	7	899

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

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