GJA5 - gap junction protein alpha 5 Gene

Also Known as CX40; ATFB11

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2702

About GJA5

Cytogenetic location: 1q21.2 Genomic coordinates (GRCh38): 1:147,756,199-147,773,351 (from NCBI)

This gene has 3 transcripts (splice variants), 257 orthologues, 20 paralogues and is associated with 5 phenotypes. Biased expression in placenta (RPKM 23.7), lung (RPKM 11.2) and 11 other tissues.

Summary

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight Materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]

GJA5 Products (2)

mRNA	Protein	Name
NM_005266.7	NP_005257.2	gap junction alpha-5 protein
NM_181703.4	NP_859054.1	gap junction alpha-5 protein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling	IDA IDA: Inferred from direct assay	22247482	GOA
enables gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling	IMP IMP: Inferred from mutant phenotype	16790700	GOA
enables gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling	IMP IMP: Inferred from mutant phenotype	22247482	GOA
enables gap junction channel activity involved in cardiac conduction electrical coupling	IDA IDA: Inferred from direct assay	23348765	GOA
enables gap junction channel activity involved in cardiac conduction electrical coupling	IMP IMP: Inferred from mutant phenotype	16790700	GOA
enables gap junction hemi-channel activity	IDA IDA: Inferred from direct assay	23348765	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in AV node cell to bundle of His cell communication by electrical coupling	IMP IMP: Inferred from mutant phenotype	22247482	GOA
involved in angiogenesis	IEP IEP: Inferred from expression pattern	11866539	GOA
involved in atrial cardiac muscle cell to AV node cell communication by electrical coupling	IMP IMP: Inferred from mutant phenotype	16790700	GOA
involved in atrial septum development	IMP IMP: Inferred from mutant phenotype	22199024	GOA
involved in bundle of His cell to Purkinje myocyte communication by electrical coupling	IMP IMP: Inferred from mutant phenotype	22247482	GOA
involved in cell communication by electrical coupling involved in cardiac conduction	IDA IDA: Inferred from direct assay	16790700	GOA
involved in gap junction assembly	IDA IDA: Inferred from direct assay	22247482	GOA
involved in gap junction assembly	IMP IMP: Inferred from mutant phenotype	16790700	GOA
involved in mitral valve development	IMP IMP: Inferred from mutant phenotype	22199024	GOA
involved in outflow tract morphogenesis	IMP IMP: Inferred from mutant phenotype	22199024	GOA
involved in pulmonary valve formation	IMP IMP: Inferred from mutant phenotype	22199024	GOA
involved in regulation of AV node cell action potential	IMP IMP: Inferred from mutant phenotype	22247482	GOA
involved in regulation of Purkinje myocyte action potential	IMP IMP: Inferred from mutant phenotype	22247482	GOA
involved in regulation of atrial cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	23348765	GOA
involved in regulation of atrial cardiac muscle cell membrane depolarization	IMP IMP: Inferred from mutant phenotype	22247482	GOA
involved in regulation of bundle of His cell action potential	IMP IMP: Inferred from mutant phenotype	22247482	GOA
involved in regulation of cardiac muscle contraction	IMP IMP: Inferred from mutant phenotype	16790700	GOA
involved in ventricular septum development	IMP IMP: Inferred from mutant phenotype	22199024	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of connexin complex	IDA IDA: Inferred from direct assay	22247482	GOA
located in gap junction	IDA IDA: Inferred from direct assay	23348765	GOA
located in intercalated disc	IDA IDA: Inferred from direct assay	16790700	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	22247482	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GJA5 Protein Structure

Connexin

0
100
200
300
358 a.a.

Protein Preferred Names	Protein Names
gap junction alpha-5 protein	connexin 40

GJA5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GJA5	P36382	NIPAL3	Homo sapiens	Q6P499	Validated Y2H	32296183
Intra	GJA5	P36382	SLC41A2	Homo sapiens	Q96JW4	Validated Y2H	32296183
Intra	GJA5	P36382	TMBIM6	Homo sapiens	P55061	Validated Y2H	32296183
Intra	GJA5	P36382	RPRM	Homo sapiens	Q9NS64	Validated Y2H	32296183
Intra	GJA5	P36382	JPH3	Homo sapiens	Q8WXH2	Y2H Pooling	32814053
Intra	GJA5	P36382	JPH3	Homo sapiens	Q8WXH2	Validated Y2H	32814053
Intra	GJA5	P36382	JPH3	Homo sapiens	Q8WXH2	Y2H Array	32814053
Intra	GJA5	P36382	NEK7	Homo sapiens	Q8TDX7	Y2H Array	32814053
Intra	GJA5	P36382	NEK7	Homo sapiens	Q8TDX7	Validated Y2H	32814053
Intra	GJA5	P36382	NEK7	Homo sapiens	Q8TDX7	Y2H Pooling	32814053
Intra	GJA5	P36382	C4orf3	Homo sapiens	Q8WVX3-2	Validated Y2H	32296183
Intra	GJA5	P36382	MS4A13	Homo sapiens	Q5J8X5	Validated Y2H	32296183
Intra	GJA5	P36382	VRK2	Homo sapiens	Q86Y07	Validated Y2H	32296183
Intra	GJA5	P36382	PGAP2	Homo sapiens	Q9UHJ9-5	Validated Y2H	32296183
Intra	GJA5	P36382	SLC41A1	Homo sapiens	Q8IVJ1	Validated Y2H	32296183
Intra	GJA5	P36382	SLC13A4	Homo sapiens	Q9UKG4	Validated Y2H	32296183
Intra	GJA5	P36382	TMEM107	Homo sapiens	Q6UX40	Validated Y2H	32296183
Intra	GJA5	P36382	SLC66A1	Homo sapiens	Q6ZP29-3	Validated Y2H	32296183
Intra	GJA5	P36382	SLC35F1	Homo sapiens	Q5T1Q4	Validated Y2H	32296183
Intra	GJA5	P36382	TREX1	Homo sapiens	Q9NSU2-1	Validated Y2H	32296183
Intra	GJA5	P36382	LHFPL2	Homo sapiens	Q6ZUX7	Validated Y2H	32296183
Intra	GJA5	P36382	BLCAP	Homo sapiens	P62952	Validated Y2H	32296183
Intra	GJA5	P36382	EMP3	Homo sapiens	P54852	Validated Y2H	32296183
Intra	GJA5	P36382	NKG7	Homo sapiens	Q16617	Validated Y2H	32296183
Intra	GJA5	P36382	MFSD5	Homo sapiens	Q6N075	Validated Y2H	32296183
Intra	GJA5	P36382	YIPF6	Homo sapiens	Q96EC8	Validated Y2H	32296183
Intra	GJA5	P36382	SLC30A2	Homo sapiens	Q9BRI3	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Atrial Fibrillation, Familial, 11	ATFB11 Fibrillation, Atrial, Familial, Type 11
Atrial Standstill 1	ATRST1 Atrial Cardiomyopathy With Heart Block Cardiomyopathy, Familial, With Conduction Disturbance Atrial Standstill, Digenic Familial Cardiomyopathy With Conduction Disturbance Standstill, Atrial, Type 1 Heart Block Cardiomyopathies Idiopathic Cardiomyopathy Idiopathic Cardiopathy Primary Myocardial Disease Primary Cardiomyopathy Myocardiopathy Myocardosis Primary Idiopathic Myocardial Disease
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb	Chromosome 1q21.1 Deletion Syndrome 1q21.1 Microdeletion Syndrome Monosomy 1q21.1 1q21.1 Microdeletion Chromosome 1q21.1 Microdeletion Syndrome 1q21.1 Contiguous Gene Deletion 1q21.1 Deletion Del(1)(Q21) 1q21.1 Deletion Syndrome
Atrial Fibrillation	A-Fib Fibrillation, Atrial Af - [Atrial Fibrillation] Rapid Atrial Fibrillation A Fib - [Atrial Fibrillation]
Atrial Standstill	Atrial Cardiomyopathy With Heart Block Standstill, Atrial Cardiomyopathy, Familial, With Conduction Disturbance
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Progressive Familial Heart Block, Type Ia	PFHB1A Bundle Branch Block Heart Block, Nonprogressive Lenegre-Lev Disease Hereditary Bundle Branch System Defect Progressive Familial Heart Block Type Ia Pfhbia Pccd Hbbd Progressive Familial Heart Block, Type 1a Heart Block, Progressive Familial, Type I Pfhbi Cardiac Conduction Defect, Progressive Heart Block, Progressive, Type Ia Progressive Familial Heart Block Type 1a Familial Progressive Cardiac Conduction Defect Heart Block Progressive Familial Type 1 Familial Lenègre Disease Familial Lev Disease Familial Lev-Lenègre Disease Familial Pccd Familial Progressive Heart Block Hereditary Bundle Branch Defect Progressive Familial Heart Block Progressive Familial Heart Block 1a Cardiac Conduction Defect Progressive Cardiac Conduction Defect Progressive Familial Heart Block Type I Heart Block, Progressive, Familial, Type 1a Bundle-Branch Block Conduction Disorder Of The Heart
Sinoatrial Node Disease	Sa Node Sinuatrial Node Sinus Node Dysfunction
Oculodentodigital Dysplasia	Odd Syndrome ODDD Oculodentoosseous Dysplasia Oculodentodigital Syndrome Odod Oculo-Dento-Digital Dysplasia Oculo-Dento-Digital Syndrome Oculo-Dento-Osseous Dysplasia Osseous-Oculo-Dental Dysplasia Meyer-Schwickerath Syndrome Oddd Syndrome Oculo Dento Digital Dysplasia Odds Oculodentodigital Dysplasia Syndrome
Rheumatic Heart Disease	Rheumatic Carditis Rheumatic Congestive Heart Failure Congestive Rheumatic Heart Failure Rheumatic Heart Failure RHD Rheumatic Fever Inactive Or Quiescent With Heart Disease Rheumatic Fever Inactive Or Quiescent With Carditis Organ Rheumatic Heart Disease Organic Rheumatic Heart Disease Inactive Rheumatic Heart Disease Rheumatic Heart Rheumatic Fever Inactive Or Quiescent With Pancarditis Rhd - [Rheumatic Heart Disease] Rheumatic Cardiac Hypertrophy Rheumatic Fever Inactive Or Quiescent With Cardiac Hypertrophy Rheumatic Pancarditis Inactive Rhd - [Rheumatic Heart Disease] Rheumatic Nonischaemic Cardiopathy
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Progressive Familial Heart Block	Hereditary Bundle Branch Defect Hereditary Bundle Branch System Defect Familial Lenegre Disease Familial Lev Disease Familial Lev-Lenegre Disease Familial Pccd Familial Progressive Heart Block Pfhb Bundle Branch Block Hbbd Lenegre Lev Disease Lev Syndrome Lev'S Disease Lev-Lenègre Disease Pccd Progressive Cardiac Conduction Defect Bundle-Branch Block
Third-Degree Atrioventricular Block	Third Degree Atrioventricular Block Complete Atrioventricular Block Complete Av Block Third-Degree Block Complete Atrioventricular Heart Block Complete Heart Block Third Degree Atrioventricular Heart Block Third Degree Heart Block Complete Heart Block Nos Chb - [Complete Heart Block] Idioventricular Rhythm Av - [Atrioventricular] Block, Complete
Holt-Oram Syndrome	HOS Atriodigital Dysplasia Heart-Hand Syndrome Atrio-Digital Syndrome Cardiac-Limb Syndrome Heart-Hand Syndrome, Type 1 Ventriculo-Radial Syndrome Hos1 Heart Hand Syndrome Atrio Digital Syndrome Hos 1 Atriodigital Dysplasia Type 1 Heart-Hand Syndrome Type 1 Holt Oram Syndrome
Heart Conduction Disease	Conduction Disorder Of The Heart Heart Rhythm Disease
Craniometaphyseal Dysplasia, Autosomal Recessive	CMDR Autosomal Recessive Craniometaphyseal Dysplasia Craniometaphyseal Dysplasia, Autosomal Recessive Type Dysplasia, Craniometaphyseal, Autosomal Recessive
Atrioventricular Block	Av Block
Sick Sinus Syndrome	Sinus Node Dysfunction Sinus Node Disease Sinus Node Infection Snd Sss Snd - [Sinus Node Dysfunction] Sinoatrial Node Dysfunction Sss - [Sick Sinus Syndrome] Sick Sinus Sick Sinus Tachycardia
Palmoplantar Keratoderma And Congenital Alopecia 1	Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia PPKCA1 Keratoderma-Hypotrichosis-Leukonychia Totalis Syndrome Autosomal Dominant Palmoplantar Hyperkeratosis And Congenital Alopecia Palmoplantar Keratoderma And Congenital Alopecia, Stevanovic Type Ppk-Ca, Stevanovic Type Ppkca, Stevanovic Type Palmoplantar Keratoderma With Congenital Alopecia Ppkca Stevanovic Type Alopecia Congenita With Hyperkeratosis Of The Palms And Soles Alopecia Congenita Keratosis Palmoplantaris Keratoderma, Palmoplantar, With Congenital Alopecia, Type 1
Clouston Syndrome	Ectodermal Dysplasia 2, Clouston Type Hidrotic Ectodermal Dysplasia ECTD2 Clouston'S Hidrotic Ectodermal Dysplasia Hidrotic Ectodermal Dysplasia Syndrome Clouston Hidrotic Ectodermal Dysplasia Clouston'S Syndrome Ed2 Ectodermal Dysplasia, Hidrotic Hed2 Ectodermal Dysplasia Ectodermal Dysplasia, Hidrotic, Autosomal Dominant Ectodermal Dysplasia, Hidrotic, 2, Formerly Hed2, Formerly Autosomal Dominant Hidrotic Ectodermal Dysplasia Hed Hidrotic Ectodermal Dysplasia, Autosomal Dominant Hidrotic Ectodermal Dysplasia 2 Ectodermal Dysplasia 2 Hidrotic Ectodermal Dysplasia Hidrotic Autosomal Dominant Dysplasia, Ectodermal, Hidrotic
Gastric Liposarcoma	Liposarcoma Of The Stomach
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
First-Degree Atrioventricular Block	First Degree Atrioventricular Block First Degree Heart Block Incomplete Atrioventricular Block, First Degree First Degree Atrioventricular Heart Block
Vohwinkel Syndrome	Mutilating Keratoderma Keratoderma Hereditarium Mutilans Khm VOWNKL Deafness, Congenital, With Keratopachydermia And Constrictions Of Fingers And Toes Mutilating Keratoderma Of Vohwinkel Mutilating Keratoderma Plus Deafness Ppk Mutilans And Deafness Congenital Deafness With Keratopachydermia And Constrictions Of Fingers And Toes Congenital Deafness With Keratopachydermia And Constrictions Fo Fingers And Toes Palmoplantar Keratoderma Mutilans Palmoplantar Keratoderma Mutilans Vohwinkel Ppk Mutilans Vohwinkel Mutilating Keratoderma Plus Hearing Loss Ppk Mutilans And Hearing Loss
Atrioventricular Septal Defect	AVSD Atrioventricular Canal Defect Avcd Endocardial Cushion Defect Ecd Avc Defect Atrioventricular Septal Defect, Susceptibility To, 1 Atrioventricular Septal Defect 1 Endocardial Cushion Defects Septal Defect, Atrioventricular Atrioventricular Defect With Atrial Shunting Only Incomplete Atrioventricular Septal Defect With Isolated Atrial Component Incomplete Atrioventricular Canal Defect With Isolated Atrial Component Primum Atrial Septal Defect Partial Atrioventricular Canal Defect With Isolated Atrial Component Partial Atrioventricular Septal Defect, Ostium Primum Type Ostium Primum Atrial Septal Defect Partial Atrioventricular Canal Defect Partial Atrioventricular Septal Defect Atrial Septum Primum Defect Atrioventricular Canal Defect With Isolated Ventricular Component Atrioventricular Canal Defect With Isolated Ventricular Communication Atrioventricular Septal Defect With Isolated Ventricular Component Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect Intermediate Atrioventricular Canal Defect Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices Intermediate Atrioventricular Septal Defect Transitional Atrioventricular Canal Defect Transitional Atrioventricular Septal Defect Complete Atrioventricular Canal With Atrial And Ventricular Components Complete Atrioventricular Canal Defect Complete Atrioventricular Septal Defect
Double Outlet Right Ventricle	Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect Taussig-Bing Syndrome Dextrotransposition Of Aorta Taussig-Bing Syndrome Or Defect Dorv Dorv With Subpulmonary Vsd Dorv-Tga Double Outlet Right Ventricle With Transposition Of The Great Arteries Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type Taussig-Bing Heart Taussig-Bing Malformation Taussig-Bing Complex Taussig-Bing Defect Taussig-Bing Double Outlet Right Ventricle With Remote Ventricular Septal Defect Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect Double Outlet Right Ventricle With Non-Committed Interventricular Communication Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Ebstein Anomaly	Ebstein'S Anomaly Ebstein'S Anomaly Of Common Atrioventricular Valve Ebstein'S Anomaly Of Right Atrioventricular Valve Ebstein'S Anomaly Of Tricuspid Valve Ebstein'S Malformation Ebstein Malformation Of The Tricuspid Valve Ebstein Anomaly Of The Tricuspid Valve Ebstein Disease Accessory Tricuspid Valve Tissue Congenital Ebstein Deformity Of Tricuspid Valve Ebstein Syndrome Ebstein Cardiopathy Ebstein Anomaly Of Tricuspid Valve
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male
Erythrokeratodermia Variabilis Et Progressiva 1	Erythrokeratodermia Variabilis Erythrokeratodermia Variabilis Et Progressiva Greither Disease Ekv Ekvp PSEK Erythrokeratodermia Variabilis With Erythema Gyratum Repens Keratosis Palmoplantaris Transgrediens Et Progrediens Transgrediens Et Progrediens Palmoplantar Keratoderma EKVP1 Erythrokeratodermia, Progressive Symmetric Erythrokeratodermia Figurata, Congenital Familial, In Plaques Keratoderma Palmoplantaris Transgrediens Keratosis Extremitatum Hereditaria Progrediens Erythrokeratodermia Variabilis, Mendes Da Costa Type Progressive Symmetric Erythrokeratodermia Erythrokeratodermia Figurata Variabilis Greither'S Disease Ekv-P Erythrokeratodermia Variabilis Of Mendes Da Costa Progressive Symmetrical Erythrokeratoderma Of Gottron Progressive Diffuse Ppk Progressive Diffuse Palmoplantar Keratoderma Transgrediens Et Progrediens Ppk Darier-Gottron Disease Erythrokeratodermia Progressiva Symmetrica Progressive Symmetric Erythrokeratodermia, Gottron Type Congenital Familial Erythrokeratodermia Figurata In Plaques Erythrokeratodermia Progressive Symmetric Erythrokeratodermia Variabilis Mendes Da Costa Type
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Pattern Wpw Syndrome Anomalous Atrioventricular Excitation Anomalous A-V Excitation Ventricular Pre-Excitation With Arrhythmia WPWS Ventricular Familial Preexcitation Syndrome Preexcitation Syndrome Ventricular Preexcitation Wpw - [Wolff-Parkinson- White] Syndrome Pre-Excitation Syndrome
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
Hypoplastic Left Heart Syndrome	Hlhs Heart, Hypoplastic Left, Syndrome Hypoplasia Of The Left Heart Left Heart Hypoplasia Syndrome Hlhs - [Hypoplastic Left Heart Syndrome] Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
Right Atrial Isomerism	Ivemark Syndrome Asplenia With Cardiovascular Anomalies RAI Asplenia Syndrome Asplenia Right Isomerism Splenic Agenesis Syndrome Bilateral Right-Sidedness Sequence Right Sided Atrial Isomerism Isomerism Of Right Atrial Appendage Heterotaxy, Visceroatrial, Autosomal Recessive Polyasplenia Vah, Autosomal Recessive Atrial Isomerism, Right Congenital Absence Of Spleen Bilateral Right-Sidedness
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Catecholaminergic Polymorphic Ventricular Tachycardia	Cpvt Catecholamine-Induced Polymorphic Ventricular Tachycardia Familial Polymorphic Ventricular Tachycardia Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Stress-Induced Polymorphic Ventricular Tachycardia Bidirectional Tachycardia Induced By Catecholamine Double Tachycardia Induced By Catecholamines Polymorphic Catecholergic Ventricular Tachycardia Syncopal Paroxysmal Tachycardia Bidirectional Tachycardia Induced By Catecholamines Fpvt Bidirectional Ventricular Tachycardia Induced By Catecholamine Polymorphic Ventricular Tachycardia Induced By Catecholamines Ventricular Tachycardia, Catecholaminergic Polymorphic Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 Familial Ventricular Tachycardia Multifocal Pvcs Multifocal Premature Ventricular Beats
Lipoprotein Quantitative Trait Locus	Coronary Artery Disease Coronary Artery Anomaly Coronary Artery Disease, Susceptibility To Myocardial Ischemia Congenital Anomaly Of Coronary Artery Coronary Arteriosclerosis Coronary Disease Coronary Heart Disease Coronary Artery Disorder LPAQTL Lpa Deficiency, Congenital Coronary Artery Abnormality Coronary Artery Anomaly, Congenital Chd Coronary Syndrome Congenital Malformations Of Coronary Vessels Malformation Of Coronary Vessels Congenital Coronary Artery Anomaly Congenital Coronary Artery Deformity Congenital Coronary Artery Disorder Abnormal Coronary Artery Congenital Coronary Artery Malposition Congenital Coronary Disease Congenital Anomaly Of Coronary Arteries
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Patent Foramen Ovale	Atrial Septal Defect Within Oval Fossa Foramen Ovale Patent Ostium Secundum Atrial Septal Defect Atrial Septal Defect, Ostium Secundum Type Foramen Ovale, Patent Defect, Patent Or Persistent, Ostium Secundum Ostium Secundum Type Atrial Septal Defect Persistent Ostium Secundum Asd Ostium Secundum Type Ostium Secundum Asd Osasd Asd, Ostium Secundum Type Pfo - [Patent Foramen Ovale] Open Foramen Ovale Open Oval Foramen Persistent Foramen Ovale Secundum Atrial Septal Defect
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome Deletion 1p36 Monosomy 1p36 Subtelomeric 1p36 Deletion Monosomy 1p36 Syndrome Distal Monosomy 1p36 Del(1)(P36) Deletion 1pter Monosomy 1pter
Chromosome 22q11.2 Deletion Syndrome, Distal	22q11.2 Deletion Syndrome Autosomal Dominant Opitz G/Bbb Syndrome Catch22 Cayler Cardiofacial Syndrome Conotruncal Anomaly Face Syndrome Digeorge Syndrome Sedlackova Syndrome Shprintzen Syndrome Velocardiofacial Syndrome 22q11.2 Distal Deletion Syndrome Distal 22q11.2 Microdeletion Syndrome 22q11.2ds Vcfs Velo-Cardio-Facial Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Chromosome 22q11.2 Deletion Syndrome Distal Chromosome 22q11.2 Deletion Syndrome Deletion 22q11.2 Syndrome 22q11ds Catch 22 Digeorge Sequence Microdeletion 22q11.2 Monosomy 22q11 Takao Syndrome Distal Del(22)(Q11.2) Distal Monosomy 22q11.2 Catch 22 Syndrome Chromosome Deletion Syndrome 22q11.2, Distal
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05444	GJA5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GJA5	RGD	RGD:2692
Felis catus	GJA5	VGNC	VGNC:62564
Bos taurus	GJA5	VGNC	VGNC:29374
Macaca mulatta	GJA5	VGNC	VGNC:73056
Mus musculus	GJA5	MGD	MGI:95716
Canis familiaris	GJA5	VGNC	VGNC:41235
Others	GJA5	NCBI