GJD2 - gap junction protein delta 2 Gene

Homo sapiens

Also known as CX36; GJA9

Gene ID: 57369 | Gene type: protein coding

About GJD2

Cytogenetic location: 15q14 Genomic coordinates (GRCh38): 15:34,751,032-34,754,998 (from NCBI)

This gene has 1 transcript (splice variant), 265 orthologues and 20 paralogues. Biased expression in adrenal (RPKM 3.4), brain (RPKM 0.8) and 3 other tissues.

Summary

This gene encodes a member of the connexin protein family. Connexins are gap junction proteins which are arranged in groups of 6 around a central pore to form a connexon, a component of the gap junction intercellular channel. The channels formed by this protein allow cationic molecule exchange between human beta cells and may function in the regulation of Insulin secretion. [provided by RefSeq, Oct 2012]

GJD2 Products(1)

mRNA	Protein	Name
NM_020660.3	NP_065711.1	gap junction delta-2 protein

GJD2 Protein Structure

Connexin

0
100
200
300
321 a.a.

Protein Preferred Names

Protein Names

gap junction delta-2 protein

connexin-36

Related Diseases

Diseases

Alias

Temporal Lobe Neoplasm

Neoplasm Of Temporal Lobe	Malignant Neoplasm Of Temporal Lobe
Tumor Of Temporal Lobe

Degenerative Myopia

Pathological Myopia	Myopia, Degenerative
Degenerative Progressive High Myopia	Progressive High Myopia
Progressive High Myopia

Distal Muscular Dystrophy With Anterior Tibial Onset

Dmat

Myopia

Near-Sightedness	Short-Sightedness
Nearsightedness	Nearsighted
Near Vision	Close Sighted
Myopic	Short-Sighted
Near Sighted

Essential Tremor

Benign Essential Tremor	Familial Tremor
Hereditary Essential Tremor	Essential Hereditary Tremor
Shaky Hand Syndrome	Benign Essential Tremor Syndrome
Tremor Hereditary Essential	Essential Tremor, Susceptibility To
Tremor, Hereditary Essential

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

Adolescence-Adult Electroclinical Syndrome

Refractive Error

Refractive Errors

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy	Janz Syndrome
Jme	Myoclonic Epilepsy, Juvenile, Susceptibility To, 1
EJM	Myoclonic Epilepsy, Juvenile
Petit Mal, Impulsive	Myoclonic Epilepsy, Juvenile 1
Myoclonic Epilepsy, Juvenile, 1	Adolescent Myoclonic Epilepsy
Juvenile Myoclonus Epilepsy	Juvenile Myoclonic Epilepsy 1
EJM1	Petit Mal Impulsive
Susceptibility To Juvenile Myoclonic Epilepsy 1	Myoclonic Epilepsy Juvenile
Epilepsy, Myoclonic, Juvenile	Myoclonic Epilepsy Of Janz
Jme - [Juvenile Myoclonic Epilepsy]

Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 2	SRTD2
Atd2	Jatd
Jeune Asphyxiating Thoracic Dystrophy	Jeune Syndrome 2

Cycloplegia

Ciliary Muscle Paresis	Cycloplegic Paralysis Of Accommodation
Paresis Of Accommodation	Visual Accommodation Paralysis
Accommodation Paralysis	Intrinsic Paralysis Of Eye Muscle
Cycloplegic

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

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

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary	Congenital Essential Nyctalopia
Oguchi Disease	Blindness, Night, Stationary, Congenital

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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-RS05455	GJD2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GJD2	MGD	MGI:1334209
Bos taurus	GJD2	VGNC	VGNC:29385
Rattus norvegicus	GJD2	RGD	RGD:2694
Felis catus	GJD2	VGNC	VGNC:80965
Canis familiaris	GJD2	VGNC	VGNC:41244
Macaca mulatta	GJD2	VGNC	VGNC:72969

Name
Email *

	Sorry, but the email address you supplied was invalid.