Hs01574723_cn

• Gene Symbol: TNNT2
• Assay Reference Genome Location: Chr.1:201359039 on build GRCh38
• Cytoband: 1q32.1

Target Gene Details

• Entrez Gene ID: 7139
• Gene Name: troponin T2, cardiac type
• Gene Aliases: CMD1D, CMH2, CMPD2, LVNC6, RCM3, TnTC, cTnT
• Location: Chr.1:201359008-201377828 on Build GRCh38
• Assay Gene Location: Within Exon 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TNNT2	NM_000364.3	16	1151	NP_000355.2
	NM_001001430.2	16	1130	NP_001001430.1
	NM_001001431.2	15	1121	NP_001001431.1
	NM_001001432.2	15	1112	NP_001001432.1
	NM_001276345.1	17	1160	NP_001263274.1
	NM_001276346.1	15	1031	NP_001263275.1
	NM_001276347.1	16	1263	NP_001263276.1
	XM_006711508.3			XP_006711571.1
	XM_006711509.3			XP_006711572.1
	XM_011509938.2			XP_011508240.1
	XM_011509939.1			XP_011508241.1
	XM_011509940.2			XP_011508242.1
	XM_011509941.2			XP_011508243.1
	XM_011509942.2			XP_011508244.1
	XM_011509943.2			XP_011508245.1
	XM_011509944.2			XP_011508246.1
	XM_011509946.1			XP_011508248.1
	XM_017002216.1			XP_016857705.1
	XM_017002217.1			XP_016857706.1
	AA865519.1	1	74
	AK055533.1
	AK125236.1
	AK290621.1
	AL832707.1
	AY277394.1			AAP96757.1
	BC002653.2			AAH02653.1
	L40162.1			AAA67422.1
	S64668.1			AAB27731.1
	X74819.1			CAA52818.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470776	Chr.1:201319827 - 201534604 on Build GRCh38	Gain	LOC107985246 RPS10P7 PHLDA3 TNNT2 TNNI1 CSRP1 LAD1 PKP1
nsv467961	Chr.1:201316584 - 201534604 on Build GRCh38	Gain	LOC107985246 RPS10P7 PHLDA3 TNNT2 TNNI1 CSRP1 LAD1 PKP1
nsv947466	Chr.1:201308515 - 201540498 on Build GRCh38	Duplication	LOC107985246 RPS10P7 PHLDA3 TNNT2 TNNI1 CSRP1 LAD1 PKP1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

actin binding motor protein

Gene Ontology Categories:

Process(es)

regulation of heart contraction
muscle filament sliding
negative regulation of ATPase activity
positive regulation of ATPase activity
regulation of muscle filament sliding speed
protein heterooligomerization
response to calcium ion
actin crosslink formation
ventricular cardiac muscle tissue morphogenesis
cardiac muscle contraction

Function(s)

actin binding
protein binding
tropomyosin binding
troponin C binding
protein binding, bridging
troponin I binding