GJA4 - gap junction protein alpha 4 Gene

Also Known as CX37

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2701

About GJA4

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:34,792,999-34,795,747 (from NCBI)

This gene has 2 transcripts (splice variants), 183 orthologues and 20 paralogues. Broad expression in placenta (RPKM 24.9), fat (RPKM 18.0) and 17 other tissues.

Summary

This gene encodes 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 have been associated with atherosclerosis and a higher risk of myocardial infarction. [provided by RefSeq, Jul 2008]

GJA4 Products (1)

mRNA	Protein	Name
NM_002060.3	NP_002051.2	gap junction alpha-4 protein

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23840749	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

GJA4 Protein Structure

Connexin

0
100
200
300
333 a.a.

Protein Preferred Names	Protein Names
gap junction alpha-4 protein	connexin-37

GJA4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GJA4	P35212	MS4A13	Homo sapiens	Q5J8X5	Validated Y2H	32296183
Intra	GJA4	P35212	TMEM86B	Homo sapiens	Q8N661	Validated Y2H	32296183
Intra	GJA4	P35212	OPRM1	Homo sapiens	P35372	Ub Reconstruction	23840749
Intra	GJA4	P35212	OPRM1	Homo sapiens	P35372	Ub Reconstruction	28298427
Intra	GJA4	P35212	q96fb2_human	Homo sapiens	Q96FB2	Validated Y2H	32296183
Intra	GJA4	P35212	CD81	Homo sapiens	P60033	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Hemangioma Of Liver	Hepatic Hemangioma Angioma Of Liver Hepatic Angioma
Skin Hemangioma	Angioma Of The Skin Angiomatous Naevus Of Skin Hemangioma Of Skin
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
Myocardial Infarction	Heart Attack Myocardial Infarction, Susceptibility To Myocardial Infarction 1 Myocardial Infarction, Protection Against Myocardial Infarction, Decreased Susceptibility To Myocardial Infarction, Decreased Myocardial Infarct MCI1 Premature Myocardial Infarction Myocardial Infarction, Susceptibility To, Type 1
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
Infertility
Lymphedema-Distichiasis Syndrome	Lymphedema With Distichiasis Lymphedema-Distichiasis Syndrome With Renal Disease And Diabetes Mellitus LPHDST Distichiasis-Lymphedema Syndrome Lymphedema Distichiasis Syndrome Hereditary Lymphedema-Distichiasis Syndrome Lymphedema Distichiasis
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
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
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
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
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
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
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
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

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-RS05443	GJA4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	GJA4	VGNC	VGNC:41234
Macaca mulatta	GJA4	VGNC	VGNC:99961
Mus musculus	GJA4	MGD	MGI:95715
Bos taurus	GJA4	VGNC	VGNC:29373
Felis catus	GJA4	VGNC	VGNC:62563
Rattus norvegicus	GJA4	RGD	RGD:2691
Others	GJA4	NCBI