GJD3 - gap junction protein delta 3 Gene

Also Known as GJC1; GJA11; CX31.9; Cx30.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 125111

About GJD3

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:40,360,652-40,364,737 (from NCBI)

This gene has 1 transcript (splice variant), 134 orthologues and 20 paralogues.

Summary

This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. [provided by RefSeq, Jul 2008]

GJD3 Products (1)

mRNA	Protein	Name
NM_152219.4	NP_689343.3	gap junction delta-3 protein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12154091	GOA

Biological Process GO Annotation	Evidence	Références	Source
NOT involved in AV node cell to bundle of His cell communication by electrical coupling	IEP IEP: Inferred from expression pattern	19168070	GOA
NOT involved in cell communication involved in cardiac conduction	IEP IEP: Inferred from expression pattern	19168070	GOA
involved in gap junction assembly	IDA IDA: Inferred from direct assay	12154091	GOA
NOT involved in negative regulation of cell communication by electrical coupling involved in cardiac conduction	IEP IEP: Inferred from expression pattern	19168070	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in cell surface	IDA IDA: Inferred from direct assay	12154091	GOA
part of connexin complex	IDA IDA: Inferred from direct assay	12154091	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

GJD3 Protein Structure

Connexin

0
100
200
294 a.a.

Protein Preferred Names	Protein Names
gap junction delta-3 protein	connexin-31.9

GJD3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	GJD3	Q8N144	TJP1	Homo sapiens	Q07157	Pull Down	12154091
Intra	GJD3	Q8N144	TJP1	Homo sapiens	Q07157	Anti Bait CoIP	12154091

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Progressive Familial Heart Block, Type Ib	Progressive Familial Heart Block Type Ib PFHB1B Pfhbib Progressive Familial Heart Block Type 1b Heart Block Progressive Familial Type 1b Progressive Familial Heart Block 1b Cardiac Conduction Block Right-Bundle Branch Block Heart Block, Familial, Progressive, Type 1b Heart Block Right Bundle Branch Block
Testicular Thecoma
Hereditary Lymphedema Ic	Lymphedema, Hereditary, Ic Lmph1c
Bart-Pumphrey Syndrome	Knuckle Pads, Leukonychia, And Sensorineural Deafness BAPS Knuckle Pads, Leuconychia And Sensorineural Deafness Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Keratoderma Syndrome Knuckle Pads, Deafness And Leukonychia Syndrome Knuckle Pads, Deafness, And Leukonychia Syndrome Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Hyperkeratosis Syndrome Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Keratoderma Syndrome
Leukodystrophy, Hypomyelinating, 2	Pmld1 Hypomyelinating Leukodystrophy 2 HLD2 Pelizaeus-Merzbacher-Like Disease 1 Pelizaeus-Merzbacher-Like Disease Due To Gjc2 Mutation Pelizaeus-Merzbacher-Like Disease Type 1 Pelizaeus-Merzbacher-Like Disease, 1 Pelizaeus Merzbacher Like Disease Pelizaeus-Merzbacher-Like Disease Pmld - Pelizaeus Merzbacher Like Disease Pelizaeus-Merzbacher-Like Disease Autosomal Recessive Type 1 Pmldar1 Leukodystrophy, Hypomyelinating, Type 2
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
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
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]

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.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS05456	GJD3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	GJD3	VGNC	VGNC:99066
Canis familiaris	GJD3	VGNC	VGNC:110496
Rattus norvegicus	GJD3	RGD	RGD:1308942
Mus musculus	GJD3	MGD	MGI:2384150
Macaca mulatta	GJD3	VGNC	VGNC:72968
Others	GJD3	NCBI