GJA3 - gap junction protein alpha 3 Gene

Also Known as CX46; CZP3; CTRCT14

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2700

About GJA3

Cytogenetic location: 13q12.11 Genomic coordinates (GRCh38): 13:20,138,255-20,161,565 (from NCBI)

This gene has 1 transcript (splice variant), 237 orthologues, 20 paralogues and is associated with 6 phenotypes. Biased expression in heart (RPKM 3.2), placenta (RPKM 1.8) and 3 other tissues.

Summary

The protein encoded by this gene is a connexin and is a component of lens fiber gap junctions. Defects in this gene are a cause of zonular pulverulent cataract type 3 (CZP3). [provided by RefSeq, Jan 2010]

GJA3 Products (1)

mRNA	Protein	Name
NM_021954.4	NP_068773.2	gap junction alpha-3 protein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables gap junction hemi-channel activity	IDA IDA: Inferred from direct assay	30044662	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in gap junction-mediated intercellular transport	IDA IDA: Inferred from direct assay	30044662	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of connexin complex	IDA IDA: Inferred from direct assay	30044662	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	30044662	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

GJA3 Protein Structure

Connexin

0
100
200
300
400
435 a.a.

Protein Preferred Names	Protein Names
gap junction alpha-3 protein	connexin-46

Related Diseases

Diseases	Alias
Cataract 14, Multiple Types	Cataract 14 Multiple Types CTRCT14 Czp3 Cae3 Cataract, Zonular Pulverulent 3 Zonular Pulverulent Cataract 3 Cataract, Zonular Pulverulent-3 Cataract, Type 14, Multiple Types
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	CCFDN Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome Cataract, Congenital, With Facial Dysmorphism And Neuropathy Cataracts, Congenital, Facial Dysmorphism, And Neuropathy
Early-Onset Posterior Polar Cataract
Cataract 30, Multiple Types	CTRCT30 Cataract 30, Pulverulent Pulverulent Cataract Coppock-Like Cataract Dusty Cataract Pulverulent Cataract 30 Cataract 30 Cataract, Pulverulent
Early-Onset Nuclear Cataract
Cataract 1, Multiple Types	Cataract 1 Multiple Types CTRCT1 Cataract 1, Multiple Types, With Or Without Microcornea Czp1 Cae1 Pulverulent Zonular Cataract Cataract, Duffy-Linked Cataract, Zonular Pulverulent, 1 Duffy Linked Cataract Zonular Pulverulent Cataract 1 Cataract Duffy-Linked Cataract-Microcornea Syndrome Cataract Zonular Pulverulent 1 Ccmc Cznp Czp Zonular Nuclear Pulverulent Cataract Cataract, Zonular Pulverulent-1 Zonular Pulverulent Cataract Cataract, Zonular Pulverulent 1 Cataract Microcornea Syndrome
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Posterior Polar Cataract	Cataract, Posterior Polar
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
Presbyopia	Subnormal Accommodation Accommodation Insufficiency Of Old Age
Hallermann-Streiff Syndrome	Francois Dyscephalic Syndrome HSS Hallermann'S Syndrome Oculomandibulofacial Syndrome Hallerman - Streiff Syndrome François Dyscephalic Syndrome Hallermann Streiff Francois Syndrome Hallermann Streiff Syndrome
Lens Disease	Lens Diseases
Eye Accommodation Disease
Nance-Horan Syndrome	NHS Cataract-Dental Syndrome Cataract, X-Linked, With Hutchinsonian Teeth Mesiodens-Cataract Syndrome Cataract X-Linked With Hutchinsonian Teeth Cataract Dental Syndrome Mesiodens Cataract Syndrome
Senile Cataract
Amblyopia	Lazy Eye
Craniometaphyseal Dysplasia, Autosomal Dominant	Craniometaphyseal Dysplasia CMDD Cmdj Cmd Autosomal Dominant Craniometaphyseal Dysplasia Craniometaphyseal Dysplasia, Jackson Type Craniometaphyseal Dysplasia Jackson Type Autosomal Recessive Craniometaphyseal Dysplasia Cmdr Dysplasia, Craniometaphyseal, Autosomal Dominant Craniometaphyseal Dysplasia, Autosomal Recessive Type
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
Aniridia 1	Aniridia Congenital Aniridia AN1 An Cataract With Late-Onset Corneal Dystrophy Aplasia Of Iris Absent Iris Irideremia Aniridia Ii, Formerly An2, Formerly An2 Aniridia Type Ii Aniridia, Type 1 An-1 Absence Of Iris Agenesis Of Iris Congenital Absence Of Iris Hereditary Aniridia Sporadic Aniridia
Anterior Segment Dysgenesis	Anterior Segment Developmental Anomaly Anterior Segment Mesenchymal Dysgenesis Corneal Opacification And Other Ocular Anomalies Sclerocornea With Other Ocular Anomalies Asmd Asod Anterior Segment Ocular Dysgenesis Foxe3-Related Ocular Disorder Familial Ocular Anterior Segment Mesenchymal Dysgenesis Dysgenesis, Anterior Segment Irido-Corneal Dysgenesis Axenfeld-Rieger Syndrome, Type 3
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy

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-RS05442	GJA3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GJA3	RGD	RGD:621820
Canis familiaris	GJA3	VGNC	VGNC:41233
Mus musculus	GJA3	MGD	MGI:95714
Macaca mulatta	GJA3	VGNC	VGNC:106262
Bos taurus	GJA3	VGNC	VGNC:29372
Others	GJA3	NCBI