GJD3 - gap junction protein delta 3 Gene

Homo sapiens

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

Gene ID: 125111 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12154091	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05456	GJD3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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