Long Qt Syndrome 15 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LQT15 MCID: LNG096 MIFTS: 43	Long Qt Syndrome 15 (LQT15) Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Muscle diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Long Qt Syndrome 15

MalaCards integrated aliases for Long Qt Syndrome 15:

Name: Long Qt Syndrome 15 ⁵⁷ ¹¹ ⁷³ ²⁸ ⁵ ¹⁴ ⁷¹

Lqt15 ⁵⁷ ¹¹ ⁷³

Long Qt Syndrome, Type 15 ³⁸

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
onset at birth or in early childhood

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Ear diseases Muscle diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the circulatory system

Other forms of heart disease

Other conduction disorders

Other specified conduction disorders

External Ids:

Disease Ontology ¹¹ DOID:0110656

OMIM® ⁵⁷ 616249

OMIM Phenotypic Series ⁵⁷ PS192500

MeSH ⁴³ D008133

ICD10 ³¹ I45.8

MedGen ⁴⁰ C4015695 CN228134

SNOMED-CT via HPO ⁶⁹ 128613002 246545002 271594007 more

UMLS ⁷¹ C4015695

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Summaries for Long Qt Syndrome 15

OMIM®: ⁵⁷ LQT15 is a cardiac arrhythmia disorder characterized by ventricular arrhythmias, often life-threatening, occurring very early in life, frequent episodes of T-wave alternans, markedly prolonged QTc intervals, and intermittent 2:1 atrioventricular block (Crotti et al., 2013). Patients with LQT14 (616247), LQT15, or LQT16 (618782), resulting from mutation in calmodulin genes CALM1 (114180), CALM2, or CALM3 (114183), respectively, typically have a more severe phenotype, with earlier onset, profound QT prolongation, and a high predilection for cardiac arrest and sudden death, than patients with mutations in other genes (Boczek et al., 2016). (616249) (Updated 08-Dec-2022)

MalaCards based summary: Long Qt Syndrome 15, also known as lqt15, is related to long qt syndrome 14 and flying phobia. An important gene associated with Long Qt Syndrome 15 is CALM2 (Calmodulin 2), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Olfactory Signaling Pathway. Affiliated tissues include heart, heart-atrium and heart-ventricle, and related phenotypes are seizure and syncope

UniProtKB/Swiss-Prot: ⁷³ A form of long QT syndrome, a heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.

Disease Ontology: ¹¹ A long QT syndrome that has material basis in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21.

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Related Diseases for Long Qt Syndrome 15

Diseases in the Long Qt Syndrome family:

Long Qt Syndrome 1	Long Qt Syndrome 3
Long Qt Syndrome 9	Long Qt Syndrome 10
Long Qt Syndrome 11	Long Qt Syndrome 12
Long Qt Syndrome 13	Long Qt Syndrome 2
Long Qt Syndrome 6	Long Qt Syndrome 5
Long Qt Syndrome 14	Long Qt Syndrome 15
Long Qt Syndrome 8	Long Qt Syndrome 16
Familial Long Qt Syndrome

Diseases related to Long Qt Syndrome 15 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)

#	Related Disease	Score	Top Affiliating Genes
1	long qt syndrome 14	29.5	TRDN TECRL SNTA1 SCN4B KCNJ2 KCNH2
2	flying phobia	10.0	CALM3 CALM1
3	familial short qt syndrome	9.9	KCNJ2 KCNH2
4	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	9.9	TRDN CALM1
5	first-degree atrioventricular block	9.9	KCNJ2 KCNH2
6	atrioventricular block	9.9	KCNJ2 KCNH2
7	brugada syndrome 4	9.9	KCNJ2 KCNH2
8	diamond-blackfan anemia 3	9.9	KCNH2 CALM3 CALM1
9	sinoatrial node disease	9.8	KCNJ2 KCNH2
10	ventricular tachycardia, catecholaminergic polymorphic, 3	9.8	TRDN TECRL KCNJ2
11	hypokalemic periodic paralysis, type 1	9.7	TRDN SCN4B KCNJ2
12	third-degree atrioventricular block	9.7	KCNJ2 KCNH2
13	short qt syndrome	9.6	SCN4B KCNJ2 KCNH2
14	sudden infant death syndrome	9.5	SNTA1 SCN4B KCNH2 CALM2
15	atrial fibrillation	9.5	SNTA1 SCN4B KCNJ2 KCNH2
16	long qt syndrome 6	9.5	SNTA1 SCN4B KCNJ2 KCNH2
17	heart conduction disease	9.5	TRDN SCN4B KCNJ2 KCNH2
18	cardiac arrest	9.4	TRDN TECRL KCNH2 CALM3 CALM1
19	left ventricular noncompaction	9.4	TRDN SNTA1 KCNJ2 KCNH2 CALM1
20	long qt syndrome 10	9.3	SNTA1 SCN4B KCNJ2 AKAP9
21	long qt syndrome 11	9.3	SNTA1 SCN4B KCNJ2 AKAP9
22	dilated cardiomyopathy	9.2	TRDN SNTA1 SCN4B KCNJ2 KCNH2
23	long qt syndrome 12	9.1	SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
24	long qt syndrome 13	9.1	SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
25	long qt syndrome 5	9.1	SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
26	intrinsic cardiomyopathy	9.0	SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
27	long qt syndrome 9	8.9	TRDN SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
28	long qt syndrome 3	8.9	TRDN SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
29	timothy syndrome	8.9	TRDN SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
30	cardiac arrhythmia, ankyrin-b-related	8.9	TRDN SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
31	jervell and lange-nielsen syndrome 1	8.9	TRDN SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
32	hypertrophic cardiomyopathy	8.8	TRDN SNTA1 KCNJ2 KCNH2 CALM3 CALM1
33	familial atrial fibrillation	8.8	TECRL SNTA1 SCN4B KCNJ2 KCNH2 AKAP9
34	andersen cardiodysrhythmic periodic paralysis	8.5	TRDN TECRL SNTA1 SCN4B KCNJ2 KCNH2
35	brugada syndrome	8.3	TRDN TECRL SNTA1 SCN4B KCNJ2 KCNH2
36	long qt syndrome 2	8.3	TRDN TECRL SNTA1 SCN4B KCNJ2 KCNH2
37	long qt syndrome 1	8.1	TRDN TECRL SNTA1 SCN4B KCNJ2 KCNH2
38	long qt syndrome	8.1	TRDN TECRL SNTA1 SCN4B KCNJ2 KCNH2
39	catecholaminergic polymorphic ventricular tachycardia	8.1	TRDN TECRL SNTA1 SCN4B KCNJ2 KCNH2

Graphical network of the top 20 diseases related to Long Qt Syndrome 15:

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Symptoms & Phenotypes for Long Qt Syndrome 15

Human phenotypes related to Long Qt Syndrome 15:

³⁰ (show all 10)

#	Description	HPO Frequency	HPO Source Accession
1	seizure ³⁰	Very rare (1%)	HP:0001250
2	syncope ³⁰	Very rare (1%)	HP:0001279
3	cardiac arrest ³⁰	Very rare (1%)	HP:0001695
4	sinus bradycardia ³⁰	Very rare (1%)	HP:0001688
5	ventricular fibrillation ³⁰	Very rare (1%)	HP:0001663
6	prolonged qtc interval ³⁰	Very rare (1%)	HP:0005184
7	left ventricular noncompaction ³⁰	Very rare (1%)	HP:0030682
8	polymorphic ventricular tachycardia ³⁰	Very rare (1%)	HP:0031677
9	ventricular ectopy ³⁰	Very rare (1%)	HP:0034041
10	ventricular bigeminy ³⁰	Very rare (1%)	HP:0034306

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Cardiovascular Heart:
sudden death (in some patients)
cardiac arrest (in some patients)
bradycardia (in some patients)
recurrent episodes of ventricular fibrillation
prolonged qtc interval on electrocardiogram (ecg)
more

Prenatal Manifestations:
fetal bradycardia (in some patients)

Clinical features from OMIM®:

616249 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00173-A	9.8	CALM2
2	Decreased viability	GR00221-A-1	9.8	AKAP9 CALM2
3	Decreased viability	GR00221-A-2	9.8	CALM1 CALM2
4	Decreased viability	GR00221-A-3	9.8	CALM1
5	Decreased viability	GR00221-A-4	9.8	CALM1 CALM2
6	Decreased viability	GR00240-S-1	9.8	AKAP9
7	Decreased viability	GR00249-S	9.8	CALM2
8	Decreased viability	GR00301-A	9.8	AKAP9 CALM1 CALM2
9	Decreased viability	GR00402-S-2	9.8	CALM1
10	Reduced mammosphere formation	GR00396-S	9.02	AKAP9 CALM1 CALM2 CALM3 SCN4B

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Drugs & Therapeutics for Long Qt Syndrome 15

Search Clinical Trials, NIH Clinical Center for Long Qt Syndrome 15

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Genetic Tests for Long Qt Syndrome 15

Genetic tests related to Long Qt Syndrome 15:

#	Genetic test	Affiliating Genes
1	Long Qt Syndrome 15 ²⁸	CALM2

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Anatomical Context for Long Qt Syndrome 15

Organs/tissues related to Long Qt Syndrome 15:

MalaCards : Heart

ODiseA: Heart-Atrium, Heart-Ventricle, Heart

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Publications for Long Qt Syndrome 15

Articles related to Long Qt Syndrome 15:

#	Title	Authors	PMID	Year
1	A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome. ⁵⁷ ⁵	Limpitikul WB...Yue DT	27765793	2017
2	Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G. ⁵⁷ ⁵	Boczek NJ...Ackerman MJ	26969752	2016
3	Novel calmodulin mutations associated with congenital arrhythmia susceptibility. ⁵⁷ ⁵	Makita N...George AL	24917665	2014
4	Calmodulin mutations associated with recurrent cardiac arrest in infants. ⁵⁷ ⁵	Crotti L...George AL	23388215	2013
5	Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. ⁵⁷	Crotti L...Schwartz PJ	31170290	2019
6	Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks. ⁵	Gomez-Hurtado N...Knollmann BC	27516456	2016
7	Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. ⁵⁷	Tester DJ...Ackerman MJ	15840476	2005
8	Long QT syndrome with a de novo CALM2 mutation in a 4-year-old boy. ⁶²	Fujita S...Hatasaki K	31283864	2019
9	Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation. ⁶²	Yamamoto Y...Kimura T	28335032	2017

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Genes for Long Qt Syndrome 15

Genes related to Long Qt Syndrome 15 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CALM2	Calmodulin 2	Protein Coding	1338.7	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	23388215 24917665 26969752 (more) 27516456 27765793
2	CALM1	Calmodulin 1	Protein Coding	6.99	DISEASES inferred ¹⁴
3	CALM3	Calmodulin 3	Protein Coding	6.51	DISEASES inferred ¹⁴
4	TRDN	Triadin	Protein Coding	6.29	DISEASES inferred ¹⁴
5	SNTA1	Syntrophin Alpha 1	Protein Coding	6.19	DISEASES inferred ¹⁴
6	KCNJ2	Potassium Inwardly Rectifying Channel Subfamily J Member 2	Protein Coding	6.19	DISEASES inferred ¹⁴
7	TECRL	Trans-2,3-Enoyl-CoA Reductase Like	Protein Coding	6.17	DISEASES inferred ¹⁴
8	SCN4B	Sodium Voltage-Gated Channel Beta Subunit 4	Protein Coding	6.05	DISEASES inferred ¹⁴
9	AKAP9	A-Kinase Anchoring Protein 9	Protein Coding	6.04	DISEASES inferred ¹⁴
10	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	5.94	DISEASES inferred ¹⁴

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Variations for Long Qt Syndrome 15

ClinVar genetic disease variations for Long Qt Syndrome 15:

⁵ (show all 12)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CALM2	NM_001743.6(CALM2):c.287A>T (p.Asp96Val)	SNV	Pathogenic	183233	rs730882254	GRCh37: 2:47388996-47388996 GRCh38: 2:47161857-47161857
2	CALM2	NM_001743.6(CALM2):c.400G>C (p.Asp134His)	SNV	Pathogenic	96723	rs398124650	GRCh37: 2:47388883-47388883 GRCh38: 2:47161744-47161744
3	CALM2	NM_001743.6(CALM2):c.396T>G (p.Asp132Glu)	SNV	Pathogenic	96722	rs398124648	GRCh37: 2:47388887-47388887 GRCh38: 2:47161748-47161748
4	CALM2	NM_001743.6(CALM2):c.407A>C (p.Gln136Pro)	SNV	Pathogenic	96724	rs398124649	GRCh37: 2:47388876-47388876 GRCh38: 2:47161737-47161737
5	CALM2	NM_001743.6(CALM2):c.414C>G (p.Asn138Lys)	SNV	Pathogenic	488476	rs1553431702	GRCh37: 2:47388869-47388869 GRCh38: 2:47161730-47161730
6	CALM2	NM_001743.6(CALM2):c.293A>T (p.Asn98Ile)	SNV	Pathogenic	96721	rs398124647	GRCh37: 2:47388990-47388990 GRCh38: 2:47161851-47161851
7	CALM2	NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)	SNV	Pathogenic	96720	rs398124647	GRCh37: 2:47388990-47388990 GRCh38: 2:47161851-47161851
8	CALM2	NM_001743.6(CALM2):c.389A>G (p.Asp130Gly)	SNV	Pathogenic	812710	rs1573214163	GRCh37: 2:47388894-47388894 GRCh38: 2:47161755-47161755
9	CALM2	NM_001743.6(CALM2):c.400G>A (p.Asp134Asn)	SNV	Likely Pathogenic	448971	rs398124650	GRCh37: 2:47388883-47388883 GRCh38: 2:47161744-47161744
10	CALM2	NM_001743.6(CALM2):c.-56G>A	SNV	Uncertain Significance	1709364		GRCh37: 2:47403638-47403638 GRCh38: 2:47176499-47176499
11	CALM2	NM_001743.6(CALM2):c.421+97G>C	SNV	Benign	674616	rs2454084	GRCh37: 2:47388765-47388765 GRCh38: 2:47161626-47161626
12	CALM2	NM_001743.6(CALM2):c.421+96T>C	SNV	Benign	674615	rs2454085	GRCh37: 2:47388766-47388766 GRCh38: 2:47161627-47161627

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 15:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	CALM2	p.Asp96Val	VAR_073276	rs730882254
2	CALM2	p.Asn98Ile	VAR_073277	rs398124647
3	CALM2	p.Asp132Glu	VAR_073279	rs398124648
4	CALM2	p.Asp134His	VAR_073280	rs398124650
5	CALM2	p.Gln136Pro	VAR_073281	rs398124649
6	CALM2	p.Asp130Val	VAR_078262
7	CALM2	p.Asn98Ser	VAR_078543	rs398124647
8	CALM2	p.Asp130Gly	VAR_078544	rs1573214163

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Expression for Long Qt Syndrome 15

Search GEO for disease gene expression data for Long Qt Syndrome 15.

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Pathways for Long Qt Syndrome 15

Pathways related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

(show top 50) (show all 63)

#	Super pathways	Score	Top Affiliating Genes
1	Activation of cAMP-Dependent PKA ⁶⁴ Show member pathways Activation of PKA through GPCR ⁶⁴ cAMP Pathway ⁶⁴ PKA Signaling ⁶⁴	13.38	SCN4B CALM3 CALM2 CALM1 AKAP9
2	Olfactory Signaling Pathway ⁶⁶ Show member pathways Expression and translocation of olfactory receptors ⁶⁶ Sensory Perception ⁶⁶	13.25	SCN4B KCNJ2 CALM3 CALM2 CALM1
3	Transmission across Chemical Synapses ⁶⁶ Show member pathways Neuronal System ⁶⁶ Neurotransmitter receptors and postsynaptic signal transmission ⁶⁶	12.95	CALM1 CALM2 CALM3 KCNH2 KCNJ2
4	Organelle biogenesis and maintenance ⁶⁶ Show member pathways Cilium Assembly ⁶⁶	12.67	CALM3 CALM2 CALM1 AKAP9
5	DREAM Repression and Dynorphin Expression ⁶⁴ Show member pathways Arrhythmogenic right ventricular cardiomyopathy ⁷⁴ BMP Pathway ⁶⁴ Calpain Protease Regulates Cellular Mechanics ⁶⁴ Caspase Cascade ⁶⁴ nNOS Signaling in Skeletal Muscle ⁶⁴ Presynaptic depolarization and calcium channel opening ⁶⁶ TOB in Osteoblast Signaling ⁶⁴	12.63	SNTA1 CALM3 CALM2 CALM1
6	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.5	SCN4B CALM3 CALM2 CALM1
7	Immune response NFAT in immune response ²² Show member pathways Immune response CD28 signaling ²² Immune response ICOS pathway in T-helper cell ²² Immune response T cell receptor signaling pathway ²²	12.46	CALM3 CALM2 CALM1
8	Myometrial relaxation and contraction pathways ⁷⁴ Show member pathways Calcium regulation in cardiac cells ⁷⁴	12.39	CALM3 CALM2 CALM1
9	Semaphorin interactions ⁶⁶ Show member pathways CRMPs in Sema3A signaling ⁶⁶ Other semaphorin interactions ⁶⁶ RHO GTPases activate CIT ⁶⁶ RHO GTPases activate PAKs ⁶⁶ RHO GTPases Activate ROCKs ⁶⁶ Sema3A PAK dependent Axon repulsion ⁶⁶ SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion ⁶⁶ Sema4D in semaphorin signaling ⁶⁶ Sema4D induced cell migration and growth-cone collapse ⁶⁶ Sema4D mediated inhibition of cell attachment and migration ⁶⁶ Semaphorin Signaling ⁶⁴	12.37	CALM3 CALM2 CALM1
10	Thromboxane signalling through TP receptor ⁶⁶ Show member pathways ADP signalling through P2Y purinoceptor 1 ⁶⁶ ADP signalling through P2Y purinoceptor 12 ⁶⁶ Adrenaline,noradrenaline inhibits insulin secretion ⁶⁶ Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding ⁶⁶ Development Angiotensin signaling via beta-Arrestin ²² G-protein activation ⁶⁶ Signal amplification ⁶⁶ Thrombin signalling through proteinase activated receptors (PARs) ⁶⁶	12.34	CALM3 CALM2 CALM1
11	Ion channel transport ⁶⁶ Show member pathways Stimuli-sensing channels ⁶⁶	12.34	TRDN CALM3 CALM2 CALM1
12	Presynaptic function of Kainate receptors ⁶⁶ Show member pathways Activation of Ca-permeable Kainate Receptor ⁶⁶ Activation of kainate receptors upon glutamate binding ⁶⁶ Activation of Na-permeable kainate receptors ⁶⁶ Calcitonin-like ligand receptors ⁶⁶ Class B/2 (Secretin family receptors) ⁶⁶ G beta:gamma signalling through PLC beta ⁶⁶ Glucagon-type ligand receptors ⁶⁶ G-Protein Signaling through Tubby Protein ⁶⁴ Ionotropic activity of kainate receptors ⁶⁶	12.3	CALM3 CALM2 CALM1
13	CLEC7A (Dectin-1) signaling ⁶⁶ Show member pathways Alternative NF-kappaB pathway ⁶¹ CLEC7A/inflammasome pathway ⁶⁶ C-type lectin receptors (CLRs) ⁶⁶	12.3	CALM1 CALM2 CALM3
14	Development Dopamine D2 receptor transactivation of EGFR ²² Show member pathways Chemotaxis CXCR4 signaling pathway ²² Development Alpha-2 adrenergic receptor activation of ERK ²² Extra-nuclear estrogen signaling ⁶⁶	12.28	CALM3 CALM2 CALM1
15	RhoGDI Pathway ⁶⁴ Show member pathways Fc-GammaR-Mediated Phagocytosis in Macrophages ⁶⁴	12.27	CALM3 CALM2 CALM1
16	CD28 co-stimulation ⁶⁶ Show member pathways Activation of AKT2 ⁶⁶ CD28 dependent PI3K/Akt signaling ⁶⁶ CD28 dependent Vav1 pathway ⁶⁶ Costimulation by the CD28 family ⁶⁶ CTLA4 Signaling ⁶⁴ VEGFR2 mediated vascular permeability ⁶⁶	12.27	CALM3 CALM2 CALM1
17	Transcriptional Regulation by MECP2 ⁶⁶ Show member pathways Competing endogenous RNAs (ceRNAs) regulate PTEN translation ⁶⁶ Disorders of Developmental Biology ⁶⁶ Disorders of Nervous System Development ⁶⁶ Loss of function of MECP2 in Rett syndrome ⁶⁶ Loss of MECP2 binding ability to 5hmC-DNA ⁶⁶ Loss of MECP2 binding ability to 5mC-DNA ⁶⁶ Loss of MECP2 binding ability to the NCoR/SMRT complex ⁶⁶ Loss of phosphorylation of MECP2 at T308 ⁶⁶ MECP2 regulates neuronal receptors and channels ⁶⁶ MECP2 regulates transcription factors ⁶⁶ MECP2 regulates transcription of genes involved in GABA signaling ⁶⁶ MECP2 regulates transcription of neuronal ligands ⁶⁶ Pervasive developmental disorders ⁶⁶ Post-transcriptional silencing by small RNAs ⁶⁶ PTEN Loss of Function in Cancer ⁶⁶ Regulation of MECP2 expression and activity ⁶⁶ Regulation of PTEN mRNA translation ⁶⁶	12.24	CALM3 CALM2 CALM1
18	Activation of NMDA receptors and postsynaptic events ⁶⁶ Show member pathways Activation of RAC1 downstream of NMDARs ⁶⁶ Assembly and cell surface presentation of NMDA receptors ⁶⁶ Post NMDA receptor activation events ⁶⁶	12.23	CALM3 CALM2 CALM1
19	Immune response CCR3 signaling in eosinophils ²² Show member pathways Inhibitory action of Lipoxins on neutrophil migration ²²	12.22	CALM3 CALM2 CALM1
20	Transcriptional activation of mitochondrial biogenesis ⁶⁶ Show member pathways Activation of PPARGC1A (PGC-1alpha) by phosphorylation ⁶⁶ Cristae formation ⁶⁶ Formation of ATP by chemiosmotic coupling ⁶⁶ Mitochondrial biogenesis ⁶⁶ Mitochondrial transcription initiation ⁶⁶ Mitochondrial transcription termination ⁶⁶ Transcription from mitochondrial promoters ⁶⁶	12.21	CALM1 CALM2 CALM3
21	Immune response Fc epsilon RI pathway ²² Show member pathways Fc-epsilon receptor I signaling in mast cells ⁶¹ Immune response BCR pathway ²²	12.21	CALM3 CALM2 CALM1
22	Development Ligand-independent activation of ESR1 and ESR2 ²² Show member pathways Transcription CREB pathway ²² Transcription PPAR Pathway ²²	12.2	CALM3 CALM2 CALM1
23	Toll Comparative Pathway ⁶⁴ Show member pathways IL-1 Pathway ⁶⁴ Immune response MIF in innate immunity response ²² iNOS Signaling ⁶⁴ TLR-TRIF Pathway ⁶⁴	12.19	CALM3 CALM2 CALM1
24	B Cell Receptor Signaling Pathway ⁶⁷ Show member pathways T Cell Receptor Signaling Pathway ⁶⁷	12.19	CALM3 CALM2 CALM1
25	Signaling by VEGF ⁶⁶ Show member pathways VEGFA-VEGFR2 Pathway ⁶⁶	12.18	CALM3 CALM2 CALM1
26	Immune response Function of MEF2 in T lymphocytes ²² Show member pathways Calcium Mediated T-Cell Apoptosis ⁶⁴ Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis ²² SARS-CoV-2 targets host intracellular signalling and regulatory pathways ⁶⁶	12.15	CALM3 CALM2 CALM1
27	CD28 Signaling in T-Helper Cell ⁶⁴ Show member pathways ICos-ICosL Pathway in T-Helper Cell ⁶⁴	12.13	CALM3 CALM2 CALM1
28	Platelet homeostasis ⁶⁶ Show member pathways Elevation of cytosolic Ca2+ levels ⁶⁶ Platelet calcium homeostasis ⁶⁶ Platelet sensitization by LDL ⁶⁶ Prostacyclin signalling through prostacyclin receptor ⁶⁶ Reduction of cytosolic Ca++ levels ⁶⁶	12.12	CALM3 CALM2 CALM1
29	Ras signaling ⁷⁴	12.12	CALM3 CALM2 CALM1
30	Development Endothelin-1/EDNRA transactivation of EGFR ²² Show member pathways Cytoskeleton remodeling FAK signaling ²² Development Endothelin-1/EDNRA signaling ²²	12.1	CALM3 CALM2 CALM1
31	Immune response CD16 signaling in NK cells ²² Show member pathways Immune response Role of DAP12 receptors in NK cells ²²	12.08	CALM1 CALM2 CALM3
32	Sudden infant death syndrome (SIDS) susceptibility pathways ⁷⁴	12.05	SNTA1 SCN4B KCNH2
33	CCR3 Pathway in Eosinophils ⁶⁴ Show member pathways VEGF and S-1P Signaling ⁶⁴	12	CALM3 CALM2 CALM1
34	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 2 - plateau phase ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	11.96	TRDN SCN4B KCNJ2 KCNH2 CALM3 CALM2
35	Activation of AMPK downstream of NMDARs ⁶⁶ Show member pathways RHO GTPases activate IQGAPs ⁶⁶ Translocation of SLC2A4 (GLUT4) to the plasma membrane ⁶⁶	11.95	CALM3 CALM2 CALM1
36	Oncogenic MAPK signaling ⁶⁶ Show member pathways Signaling by BRAF and RAF1 fusions ⁶⁶	11.94	CALM3 CALM2 CALM1 AKAP9
37	Inositol phosphate metabolism ⁶⁶ Show member pathways D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis ⁶¹ D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis ⁶¹ inositol diphosphates biosynthesis ⁶¹ inositol pyrophosphates biosynthesis ⁶¹ myo-inositol de novo biosynthesis ⁶¹ Synthesis of IP2, IP, and Ins in the cytosol ⁶⁶ Synthesis of IP3 and IP4 in the cytosol ⁶⁶ Synthesis of IPs in the ER lumen ⁶⁶ Synthesis of IPs in the nucleus ⁶⁶ Synthesis of pyrophosphates in the cytosol ⁶⁶	11.93	CALM1 CALM2 CALM3
38	Translation Translation regulation by Alpha-1 adrenergic receptors ²² Show member pathways Development Activation of ERK by Alpha-1 adrenergic receptors ²²	11.89	CALM3 CALM2 CALM1
39	Development EPO-induced Jak-STAT pathway ²² Show member pathways EPO receptor signaling ⁷⁴ Signaling events mediated by Stem cell factor receptor (c-Kit) ⁶¹	11.87	CALM3 CALM2 CALM1
40	Glycogen metabolism ⁶⁶ Show member pathways Glycogen breakdown (glycogenolysis) ⁶⁶ Glycogen synthesis ⁶⁶ Glycogen synthesis and degradation ⁷⁴ Myoclonic epilepsy of Lafora ⁶⁶	11.81	CALM1 CALM2 CALM3
41	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁴	11.79	KCNJ2 KCNH2 CALM3 CALM2 CALM1 AKAP9
42	Visual Cycle in Retinal Rods ⁶⁴	11.78	CALM3 CALM2 CALM1
43	Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling ²² Show member pathways DARPP-32 events ⁶⁶	11.73	CALM3 CALM2 CALM1
44	Unblocking of NMDA receptors, glutamate binding and activation ⁶⁶ Show member pathways Long-term potentiation ⁶⁶ Negative regulation of NMDA receptor-mediated neuronal transmission ⁶⁶ Synaptic adhesion-like molecules ⁶⁶	11.72	CALM3 CALM2 CALM1
45	Uptake and actions of bacterial toxins ⁶⁶ Show member pathways Intestinal infectious diseases ⁶⁶ Neurotoxicity of clostridium toxins ⁶⁶ Toxicity of botulinum toxin type A (botA) ⁶⁶ Toxicity of botulinum toxin type B (botB) ⁶⁶ Toxicity of botulinum toxin type C (botC) ⁶⁶ Toxicity of botulinum toxin type E (botE) ⁶⁶ Toxicity of botulinum toxin type G (botG) ⁶⁶ Toxicity of tetanus toxin (tetX) ⁶⁶ Uptake and function of anthrax toxins ⁶⁶ Uptake and function of diphtheria toxin ⁶⁶	11.66	CALM3 CALM2 CALM1
46	FCERI mediated Ca+2 mobilization ⁶⁶ Show member pathways CLEC7A (Dectin-1) induces NFAT activation ⁶⁶ FCERI mediated MAPK activation ⁶⁶	11.64	CALM3 CALM2 CALM1
47	Signal transduction_Erk Interactions- Inhibition of Erk ²²	11.6	CALM3 CALM2 CALM1
48	CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling ⁶⁶ Show member pathways Ras activation upon Ca2+ influx through NMDA receptor ⁶⁶ RSK activation ⁶⁶	11.48	CALM3 CALM2 CALM1
49	Transcriptional Regulatory Network in Embryonic Stem Cell ⁶⁴	11.45	CALM3 CALM2 CALM1
50	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	11.45	KCNH2 KCNJ2 SCN4B

Sources

GO Terms for Long Qt Syndrome 15

Cellular components related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	vesicle	GO:0031982	9.95	CALM3 CALM2 CALM1
2	spindle pole	GO:0000922	9.93	CALM3 CALM2 CALM1
3	sarcomere	GO:0030017	9.88	CALM3 CALM2 CALM1
4	sperm midpiece	GO:0097225	9.85	CALM3 CALM2 CALM1
5	spindle microtubule	GO:0005876	9.8	CALM1 CALM2 CALM3
6	microtubule organizing center	GO:0005815	9.73	CALM3 CALM2 CALM1 AKAP9
7	myelin sheath	GO:0043209	9.73	CALM3 CALM2 CALM1
8	calcium channel complex	GO:0034704	9.63	CALM3 CALM2 CALM1
9	catalytic complex	GO:1902494	9.43	CALM3 CALM2 CALM1
10	voltage-gated potassium channel complex	GO:0008076	9.4	KCNJ2 KCNH2 CALM3 CALM2 CALM1 AKAP9

Biological processes related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

(show all 38)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of protein serine/threonine kinase activity	GO:0071902	10.12	CALM3 CALM2 CALM1
2	response to calcium ion	GO:0051592	10.12	CALM3 CALM2 CALM1
3	G2/M transition of mitotic cell cycle	GO:0000086	10.11	CALM3 CALM2 CALM1
4	substantia nigra development	GO:0021762	10.09	CALM3 CALM2 CALM1
5	regulation of cytokinesis	GO:0032465	10.09	CALM3 CALM2 CALM1
6	positive regulation of DNA binding	GO:0043388	10.08	CALM1 CALM2 CALM3
7	positive regulation of protein dephosphorylation	GO:0035307	10.08	CALM3 CALM2 CALM1
8	positive regulation of peptidyl-threonine phosphorylation	GO:0010800	10.07	CALM3 CALM2 CALM1
9	positive regulation of protein autophosphorylation	GO:0031954	10.06	CALM3 CALM2 CALM1
10	regulation of heart rate by cardiac conduction	GO:0086091	10.06	SCN4B KCNJ2 KCNH2 AKAP9
11	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	GO:0010881	10.05	CALM1 CALM2 CALM3
12	regulation of cardiac muscle contraction	GO:0055117	10.04	CALM1 CALM2 CALM3
13	negative regulation of peptidyl-threonine phosphorylation	GO:0010801	10.03	CALM3 CALM2 CALM1
14	regulation of calcium-mediated signaling	GO:0050848	10.01	CALM3 CALM2 CALM1
15	regulation of heart rate	GO:0002027	10.01	SNTA1 CALM3 CALM2 CALM1
16	positive regulation of phosphoprotein phosphatase activity	GO:0032516	10	CALM1 CALM2 CALM3
17	detection of calcium ion	GO:0005513	9.99	CALM3 CALM2 CALM1
18	regulation of monoatomic ion transmembrane transport	GO:0034765	9.98	SCN4B KCNJ2 KCNH2
19	ventricular cardiac muscle cell action potential	GO:0086005	9.97	SNTA1 KCNH2
20	cardiac muscle cell action potential involved in contraction	GO:0086002	9.97	SCN4B KCNJ2
21	positive regulation of potassium ion transmembrane transport	GO:1901381	9.97	KCNJ2 KCNH2
22	regulation of membrane repolarization	GO:0060306	9.97	KCNJ2 KCNH2 AKAP9
23	membrane depolarization during cardiac muscle cell action potential	GO:0086012	9.96	SCN4B KCNJ2
24	membrane repolarization during action potential	GO:0086011	9.96	KCNH2 KCNJ2
25	membrane repolarization during cardiac muscle cell action potential	GO:0086013	9.95	KCNJ2 KCNH2
26	regulation of ryanodine-sensitive calcium-release channel activity	GO:0060314	9.95	CALM3 CALM2 CALM1
27	regulation of cell communication by electrical coupling involved in cardiac conduction	GO:1901844	9.95	CALM3 CALM2 CALM1
28	negative regulation of high voltage-gated calcium channel activity	GO:1901842	9.93	CALM1 CALM3
29	regulation of cardiac muscle cell action potential	GO:0098901	9.93	CALM3 CALM1
30	regulation of cyclase activity	GO:0031279	9.92	CALM2 CALM1
31	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	9.86	AKAP9 KCNH2 SCN4B SNTA1
32	positive regulation of cyclic-nucleotide phosphodiesterase activity	GO:0051343	9.85	CALM3 CALM2 CALM1
33	calcium-mediated signaling	GO:0019722	9.83	CALM3 CALM2 CALM1
34	negative regulation of calcium ion export across plasma membrane	GO:1905913	9.8	CALM3 CALM2 CALM1
35	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	GO:0010880	9.76	TRDN CALM3 CALM2 CALM1
36	negative regulation of calcium ion transmembrane transporter activity	GO:1901020	9.73	CALM1 CALM2 CALM3
37	negative regulation of ryanodine-sensitive calcium-release channel activity	GO:0060315	9.56	TRDN CALM3 CALM2 CALM1
38	positive regulation of ryanodine-sensitive calcium-release channel activity	GO:0060316	9.23	TRDN CALM3 CALM2 CALM1

Molecular functions related to Long Qt Syndrome 15 according to GeneCards Suite gene sharing:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	calcium-dependent protein binding	GO:0048306	9.97	CALM3 CALM2 CALM1
2	protein serine/threonine kinase activator activity	GO:0043539	9.93	CALM3 CALM2 CALM1
3	disordered domain specific binding	GO:0097718	9.91	CALM3 CALM2 CALM1
4	enzyme regulator activity	GO:0030234	9.88	CALM3 CALM2 CALM1
5	inward rectifier potassium channel activity	GO:0005242	9.85	KCNJ2 KCNH2
6	protein phosphatase activator activity	GO:0072542	9.85	CALM1 CALM2 CALM3
7	nitric-oxide synthase binding	GO:0050998	9.84	SNTA1 CALM3
8	voltage-gated monoatomic ion channel activity	GO:0005244	9.83	SCN4B KCNJ2 KCNH2
9	calcium channel inhibitor activity	GO:0019855	9.81	CALM2 CALM1
10	titin binding	GO:0031432	9.8	CALM3 CALM2 CALM1
11	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	9.78	KCNH2 KCNJ2
12	adenylate cyclase binding	GO:0008179	9.73	CALM3 CALM2 CALM1
13	adenylate cyclase activator activity	GO:0010856	9.63	CALM1 CALM2 CALM3
14	transmembrane transporter binding	GO:0044325	9.47	TRDN SNTA1 SCN4B CALM3 CALM2 CALM1
15	N-terminal myristoylation domain binding	GO:0031997	9.43	CALM3 CALM2 CALM1