GJA1 (gap junction protein alpha 1) - Rat Genome Database

Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: GJA1 (gap junction protein alpha 1) Homo sapiens
Symbol: GJA1
Name: gap junction protein alpha 1
RGD ID: 736925
HGNC Page HGNC:4274
Description: Enables several functions, including alpha-tubulin binding activity; beta-catenin binding activity; and gap junction channel activity. Involved in several processes, including establishment of mitotic spindle orientation; negative regulation of gonadotropin secretion; and negative regulation of trophoblast cell migration. Located in several cellular components, including gap junction; intercalated disc; and tight junction. Implicated in several diseases, including bone disease (multiple); congenital heart disease (multiple); erythrokeratodermia variabilis (multiple); oculodentodigital dysplasia; and palmoplantar keratoderma and congenital alopecia 1. Biomarker of Huntington's disease; atrial fibrillation; cardiomyopathy (multiple); and tetralogy of Fallot.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AVSD3; CMDR; connexin 43; connexin-43; CX43; DFNB38; EKVP; EKVP3; gap junction 43 kDa heart protein; gap junction alpha-1 protein; gap junction membrane channel protein alpha 1; gap junction protein, alpha 1, 43kDa; gap junction protein, alpha-like; GJAL; HLHS1; HSS; ODDD; PPKCA
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: GJA1P1   GJA6P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh386121,435,646 - 121,449,727 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl6121,435,595 - 121,449,727 (+)EnsemblGRCh38hg38GRCh38
GRCh376121,756,792 - 121,770,873 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366121,798,444 - 121,812,572 (+)NCBINCBI36Build 36hg18NCBI36
Build 346121,798,486 - 121,812,571NCBI
Celera6122,501,175 - 122,515,303 (+)NCBICelera
Cytogenetic Map6q22.31NCBI
HuRef6119,340,180 - 119,354,307 (+)NCBIHuRef
CHM1_16122,020,550 - 122,034,679 (+)NCBICHM1_1
T2T-CHM13v2.06122,622,700 - 122,636,781 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations     Click to see Annotation Detail View
Acute Lung Injury  (ISO)
adenoma  (EXP)
amnestic disorder  (ISO)
arrhythmogenic right ventricular cardiomyopathy  (IEP)
atrial fibrillation  (IEP,ISO)
atrioventricular septal defect  (EXP)
Atrioventricular Septal Defect 3  (IAGP)
autistic disorder  (EXP)
autoimmune thyroiditis  (ISO)
autosomal recessive craniometaphyseal dysplasia  (IAGP)
Basaran Yilmaz Syndrome  (EXP)
borna disease  (ISO)
Brain Injuries  (ISO)
brain ischemia  (ISO)
Breast Neoplasms  (EXP)
Cardiac Arrhythmias  (EXP,ISO)
Cardiac Fibrosis  (ISO)
chronic kidney disease  (EXP)
Chylothorax  (ISO)
coronary aneurysm  (EXP)
Diabetic Foot  (IEP)
Diaphragmatic Hernia  (EXP)
dilated cardiomyopathy  (IEP)
Disease Progression  (EXP)
epilepsy  (IAGP)
erythrokeratodermia variabilis  (IAGP)
erythrokeratodermia variabilis et progressiva 3  (IAGP)
Experimental Arthritis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Cirrhosis  (EXP)
genetic disease  (IAGP)
Hearing Loss  (IAGP)
Hemorrhagic Shock  (ISO)
hereditary lymphedema IA  (IAGP)
high grade glioma  (ISO)
Huntington's disease  (IEP)
Hyperalgesia  (EXP,ISO)
hypertension  (EXP,ISO)
hypoplastic left heart syndrome  (EXP,IAGP)
Hypoplastic Left Heart Syndrome 1  (IAGP)
impotence  (ISO)
intellectual disability  (IAGP)
ischemia  (ISO)
Lung Neoplasms  (EXP)
Lymphatic Abnormalities  (ISO)
myocardial infarction  (ISO)
Myocardial Reperfusion Injury  (EXP)
myocarditis  (IEP)
Neuralgia  (ISO)
Nonsyndromic Sensorineural Hearing Loss  (IAGP)
oculodentodigital dysplasia  (EXP,IAGP,ISO)
Oculodentodigital Dysplasia, Autosomal Recessive  (IAGP)
overactive bladder syndrome  (ISO)
palmoplantar keratoderma and congenital alopecia 1  (IAGP)
palmoplantar keratosis  (IAGP)
Parkinsonism  (ISO)
Prostatic Neoplasms  (EXP)
pulmonary hypertension  (ISO)
renovascular hypertension  (ISO)
Schwartz-Lelek Syndrome  (IAGP)
Skin Neoplasms  (EXP)
Spinal Cord Injuries  (ISO)
Sudden Cardiac Death  (ISO)
syndactyly  (IAGP)
syndactyly type 3  (IAGP)
syndactyly type 5  (IAGP)
tetralogy of Fallot  (IEP)
tongue squamous cell carcinoma  (ISO)
transient cerebral ischemia  (ISO)
type 2 diabetes mellitus  (ISO)
urethral obstruction  (ISO)
visual epilepsy  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(-)-antofine  (ISO)
(R)-lipoic acid  (ISO)
(R,R)-tramadol  (ISO)
(S)-colchicine  (ISO)
1,3-dinitrobenzene  (ISO)
1-heptanol  (ISO)
1-naphthyl isothiocyanate  (ISO)
1-O-palmitoyl-2-O-(5-oxovaleryl)-sn-glycero-3-phosphocholine  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexabromobiphenyl  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-diaminotoluene  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2-acetamidofluorene  (ISO)
2-butoxyethanol  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3,5-dibromo-4-hydroxybenzonitrile  (ISO)
3,5-diethoxycarbonyl-1,4-dihydrocollidine  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
3-methyladenine  (ISO)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-phenylbutyric acid  (ISO)
4-tert-Octylphenol  (ISO)
4-vinylcyclohexene dioxide  (ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
5-azacytidine  (EXP,ISO)
5-fluorouracil  (EXP,ISO)
7,12-dimethyltetraphene  (ISO)
8-Br-cAMP  (EXP)
acadesine  (ISO)
acetamide  (ISO)
acetylleucyl-leucyl-norleucinal  (EXP)
acetylsalicylic acid  (ISO)
acrylamide  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (ISO)
ametryn  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
anastrozole  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
antimycin A  (EXP)
apocynin  (ISO)
Aroclor 1254  (ISO)
arotinoid acid  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
astaxanthin  (ISO)
atenolol  (ISO)
atorvastatin calcium  (ISO)
atrazine  (ISO)
azoxystrobin  (EXP)
bafilomycin A1  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
Benzoyl peroxide  (ISO)
beta-carotene  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
BQ 123  (ISO)
bucladesine  (ISO)
busulfan  (ISO)
butyric acid  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
calcidiol  (ISO)
calciol  (ISO)
capsanthin  (ISO)
carbendazim  (ISO)
carbon nanotube  (ISO)
carvedilol  (EXP,ISO)
chaetoglobosin A  (ISO)
CHIR 99021  (ISO)
chloral hydrate  (ISO)
chloropicrin  (EXP)
chloroprene  (ISO)
chloroquine  (ISO)
chlorothalonil  (ISO)
choline  (ISO)
chromium atom  (ISO)
cisplatin  (EXP,ISO)
clozapine  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
curcumin  (EXP)
cycloheximide  (ISO)
cyclophosphamide  (ISO)
cylindrospermopsin  (EXP)
D-glucose  (EXP,ISO)
dapagliflozin  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dibenzo[a,l]pyrene  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
Didecyldimethylammonium  (EXP)
dieldrin  (EXP,ISO)
diethylstilbestrol  (ISO)
dimethyl sulfoxide  (ISO)
dimethylarsinous acid  (EXP)
dioxygen  (EXP,ISO)
diuron  (ISO)
dorsomorphin  (ISO)
doxorubicin  (EXP,ISO)
doxycycline  (ISO)
ebselen  (ISO)
endosulfan  (EXP,ISO)
erastin  (EXP)
ethanol  (ISO)
ethidium  (ISO)
etoposide  (ISO)
ferric oxide  (ISO)
fluoranthene  (ISO)
fluorene  (ISO)
fluoxetine  (ISO)
flutamide  (EXP,ISO)
folic acid  (EXP,ISO)
fructose  (ISO)
fucoxanthin  (EXP)
fulvestrant  (EXP)
furan  (ISO)
gamma-hexachlorocyclohexane  (ISO)
Gastrodin  (ISO)
genistein  (EXP,ISO)
ginsenoside Rg1  (ISO)
glafenine  (ISO)
glucose  (EXP,ISO)
glutaraldehyde  (ISO)
gossypol  (ISO)
griseofulvin  (EXP)
haloperidol  (ISO)
heptachlor  (EXP)
Heptachlor epoxide  (EXP,ISO)
hydrogen peroxide  (EXP,ISO)
hydrogen sulfide  (ISO)
hydroxyflutamide  (ISO)
imidacloprid  (ISO)
indoxyl sulfate  (ISO)
ioxynil  (ISO)
iprodione  (ISO)
irinotecan  (EXP,ISO)
isocarbophos  (ISO)
isoprenaline  (ISO)
KN-93  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
lactacystin  (ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
lead(2+)  (ISO)
leflunomide  (ISO)
letrozole  (EXP)
leupeptin  (EXP)
lipoic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
lithium atom  (ISO)
lithium chloride  (ISO)
lithium hydride  (ISO)
losartan  (ISO)
LY294002  (EXP)
lycopene  (ISO)
lysophosphatidylcholine  (ISO)
manganese(II) chloride  (ISO)
medroxyprogesterone acetate  (EXP)
menadione  (ISO)
mercury dichloride  (EXP)
methoxychlor  (ISO)
methylseleninic acid  (EXP)
metoprolol  (ISO)
mifepristone  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
Muconic dialdehyde  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP,ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel sulfate  (EXP)
nitric oxide  (ISO)
nitrofen  (ISO)
Norfluoxetine  (EXP)
ochratoxin A  (EXP,ISO)
okadaic acid  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
p-cresol  (ISO)
p-tert-Amylphenol  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenethyl isothiocyanate  (ISO)
phenobarbital  (ISO)
phenol  (ISO)
phenol red  (EXP)
phenylephrine  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
picoxystrobin  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
propranolol  (ISO)
quercetin  (ISO)
radicicol  (ISO)
reactive oxygen species  (EXP)
resveratrol  (EXP,ISO)
Ro 41-5253  (ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 203580  (EXP,ISO)
silicon dioxide  (ISO)
silver atom  (EXP)
silver(0)  (EXP)
simvastatin  (ISO)
sirolimus  (EXP)
sodium arsenate  (EXP,ISO)
sodium arsenite  (EXP)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (ISO)
sodium sulfide (anhydrous)  (ISO)
Soman  (ISO)
succimer  (ISO)
sulfur dioxide  (ISO)
tamoxifen  (EXP,ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tolbutamide  (ISO)
toluene  (ISO)
topotecan  (EXP,ISO)
toxaphene  (EXP)
tramadol  (ISO)
tributylstannane  (ISO)
trichloroethene  (EXP,ISO)
triclocarban  (ISO)
triclosan  (EXP,ISO)
Triptolide  (ISO)
triptonide  (ISO)
trovafloxacin  (ISO)
urethane  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vanadium atom  (ISO)
vanadium(0)  (ISO)
vinclozolin  (ISO)
vincristine  (ISO)
vitamin E  (ISO)
WIN 55212-2  (ISO)
wortmannin  (ISO)
zardaverine  (ISO)
zinc atom  (ISO)
zinc dichloride  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult heart development  (IEA,ISO)
apoptotic process  (ISO)
ATP transport  (ISO)
atrial cardiac muscle cell action potential  (TAS)
atrial ventricular junction remodeling  (IEA,ISO)
blood vessel morphogenesis  (IEA,ISO)
bone development  (ISS)
bone remodeling  (ISS)
cardiac conduction  (ISO)
cardiac conduction system development  (NAS)
cell communication  (IEA,ISO)
cell communication by chemical coupling  (IEA,ISO)
cell communication by electrical coupling  (IDA,ISO)
cell communication by electrical coupling involved in cardiac conduction  (NAS)
cell-cell junction organization  (ISO)
cell-cell signaling  (IBA,IDA,IEA,ISO)
cellular response to amyloid-beta  (ISS)
cellular response to mechanical stimulus  (ISO)
cellular response to parathyroid hormone stimulus  (ISO)
cellular response to pH  (IEA)
cellular response to platelet-derived growth factor stimulus  (ISO)
chronic inflammatory response  (ISO)
columnar/cuboidal epithelial cell maturation  (ISO)
decidualization  (ISO)
embryonic digit morphogenesis  (IEA,ISO)
embryonic heart tube development  (ISO)
endothelium development  (ISO)
epididymis development  (ISO)
epithelial cell maturation  (IEA)
establishment of mitotic spindle orientation  (IMP)
export across plasma membrane  (ISS)
gap junction assembly  (TAS)
glutamate secretion  (ISS)
glutathione transmembrane transport  (IEA)
heart development  (IEA,ISO)
heart looping  (IEA,ISO)
in utero embryonic development  (IEA,ISO)
lens development in camera-type eye  (IEA,ISO)
maintenance of blood-brain barrier  (NAS)
maintenance of protein localization in endoplasmic reticulum  (ISO)
male gonad development  (IEA)
microtubule-based transport  (IMP)
milk ejection reflex  (IEA,ISO)
monoatomic ion transmembrane transport  (IDA)
negative regulation of cardiac muscle cell proliferation  (ISO)
negative regulation of cell growth  (ISS)
negative regulation of cell population proliferation  (ISO)
negative regulation of DNA biosynthetic process  (ISO)
negative regulation of endothelial cell proliferation  (ISO)
negative regulation of gene expression  (IEA,ISO)
negative regulation of gonadotropin secretion  (IMP)
negative regulation of trophoblast cell migration  (IMP)
negative regulation of wound healing  (ISO)
neuroblast migration  (ISO)
neuron migration  (IEA,ISO)
neuron projection morphogenesis  (ISO)
osteoblast differentiation  (IEA,ISO)
positive regulation of behavioral fear response  (ISO)
positive regulation of cell communication by chemical coupling  (ISO)
positive regulation of cold-induced thermogenesis  (ISS)
positive regulation of cytosolic calcium ion concentration  (ISO)
positive regulation of establishment of Sertoli cell barrier  (ISO)
positive regulation of gene expression  (IMP,ISO)
positive regulation of glomerular filtration  (ISO)
positive regulation of I-kappaB kinase/NF-kappaB signaling  (HMP)
positive regulation of insulin secretion  (ISO)
positive regulation of meiotic nuclear division  (ISO)
positive regulation of mesodermal cell differentiation  (IMP)
positive regulation of morphogenesis of an epithelium  (IMP)
positive regulation of protein catabolic process  (ISO)
positive regulation of smooth muscle cell chemotaxis  (ISO)
positive regulation of stem cell proliferation  (IMP)
positive regulation of striated muscle tissue development  (IEA,ISO)
positive regulation of vascular associated smooth muscle cell proliferation  (IMP)
positive regulation of vasoconstriction  (ISO)
protein localization  (IMP)
regulation of actin filament organization  (ISO)
regulation of apoptotic process  (ISO)
regulation of atrial cardiac muscle cell membrane depolarization  (IEA,ISO)
regulation of bicellular tight junction assembly  (ISO)
regulation of bone mineralization  (IEA,ISO)
regulation of bone remodeling  (IEA,ISO)
regulation of calcium ion transport  (ISO)
regulation of cell communication by electrical coupling  (ISO)
regulation of heart contraction  (ISO)
regulation of transmembrane transporter activity  (ISO)
regulation of ventricular cardiac muscle cell membrane depolarization  (IEA,ISO)
regulation of ventricular cardiac muscle cell membrane repolarization  (IEA,ISO)
response to estradiol  (ISO)
response to fluid shear stress  (ISO)
response to glucose  (ISO)
response to ischemia  (ISO)
response to lipopolysaccharide  (ISO)
response to peptide hormone  (ISO)
response to pH  (ISO)
response to retinoic acid  (ISO)
response to wounding  (ISO)
signal transduction  (IDA)
skeletal muscle tissue regeneration  (IEA,ISO)
spermatogenesis  (ISO,ISS)
T cell activation  (ISO)
T cell proliferation  (IEA)
transmembrane transport  (IEA,ISO)
vascular transport  (ISO)
vasodilation  (ISO)
xenobiotic transport  (ISS)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-4 toe cutaneous syndactyly  (IAGP)
3-4 toe syndactyly  (IAGP)
4-5 finger syndactyly  (IAGP)
Abnormal blistering of the skin  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal clavicle morphology  (IAGP)
Abnormal cortical bone morphology  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal diaphysis morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormal nasopharynx morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormal thorax morphology  (IAGP)
Abnormality iris morphology  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of chromosome segregation  (IAGP)
Abnormality of limb bone morphology  (IAGP)
Abnormality of the face  (IAGP)
Abnormality of the nail  (IAGP)
Absent eyebrow  (IAGP)
Absent middle phalanx of 5th finger  (IAGP)
Alopecia  (IAGP)
Anteverted nares  (IAGP)
Aortic valve stenosis  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/Hypoplasia of the middle phalanges of the hand  (IAGP)
Arrhythmia  (IAGP)
Ataxia  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Basal ganglia calcification  (IAGP)
Bilateral microphthalmos  (IAGP)
Blepharophimosis  (IAGP)
Bony paranasal bossing  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Brittle hair  (IAGP)
Broad alveolar ridges  (IAGP)
Broad columella  (IAGP)
Broad long bones  (IAGP)
Camptodactyly of finger  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Cerebral calcification  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Club-shaped distal femur  (IAGP)
Coarctation of aorta  (IAGP)
Coarse facial features  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Corneal opacity  (IAGP)
Cranial hyperostosis  (IAGP)
Craniofacial hyperostosis  (IAGP)
Cubitus valgus  (IAGP)
Curly hair  (IAGP)
Cutaneous photosensitivity  (IAGP)
Cyanosis  (IAGP)
Deeply set eye  (IAGP)
Delayed eruption of permanent teeth  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed skeletal maturation  (IAGP)
Dental crowding  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Diabetes mellitus  (IAGP)
Digital constriction ring  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dry hair  (IAGP)
Dry skin  (IAGP)
Dysarthria  (IAGP)
Edema of the dorsum of feet  (IAGP)
Enamel hypoplasia  (IAGP)
Epicanthus  (IAGP)
Epidermal acanthosis  (IAGP)
Epidermal hyperkeratosis  (IAGP)
Erythema  (IAGP)
External ear malformation  (IAGP)
Facial erythema  (IAGP)
Facial hyperostosis  (IAGP)
Facial palsy  (IAGP)
Failure to thrive  (IAGP)
Fifth finger distal phalanx clinodactyly  (IAGP)
Fine hair  (IAGP)
Finger syndactyly  (IAGP)
First degree atrioventricular block  (IAGP)
Flared metaphysis  (IAGP)
Flexion contracture of finger  (IAGP)
Fragile nails  (IAGP)
Frontal bossing  (IAGP)
Gait disturbance  (IAGP)
Generalized hirsutism  (IAGP)
Generalized hypotrichosis  (IAGP)
Glaucoma  (IAGP)
Hearing impairment  (IAGP)
High forehead  (IAGP)
High hypermetropia  (IAGP)
Hip dislocation  (IAGP)
Hyperactive deep tendon reflexes  (IAGP)
Hypergranulosis  (IAGP)
Hypermelanotic macule  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypoglycemia  (IAGP)
Hypoplasia of teeth  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplastic aortic arch  (IAGP)
Hypoplastic left heart  (IAGP)
Hypotelorism  (IAGP)
Inlet ventricular septal defect  (IAGP)
Intellectual disability  (IAGP)
Joint contracture of the 5th finger  (IAGP)
Keratosis pilaris  (IAGP)
Large earlobe  (IAGP)
Large fontanelles  (IAGP)
Leukodystrophy  (IAGP)
Leukonychia  (IAGP)
Long nose  (IAGP)
Long philtrum  (IAGP)
Low hanging columella  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Macrodontia of permanent maxillary central incisor  (IAGP)
Madelung deformity  (IAGP)
Mandibular prognathia  (IAGP)
Maternal diabetes  (IAGP)
Median cleft lip  (IAGP)
Meningocele  (IAGP)
Metaphyseal dysplasia  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Midsystolic murmur  (IAGP)
Mild global developmental delay  (IAGP)
Mitral atresia  (IAGP)
Mitral stenosis  (IAGP)
Mixed hearing impairment  (IAGP)
Muscle weakness  (IAGP)
Myopia  (IAGP)
Nail dysplasia  (IAGP)
Nail dystrophy  (IAGP)
Narrow mouth  (IAGP)
Narrow nasal bridge  (IAGP)
Narrow nose  (IAGP)
Nasal congestion  (IAGP)
Neoplasm of the skin  (IAGP)
Neurogenic bladder  (IAGP)
Non-midline cleft lip  (IAGP)
Nuclear cataract  (IAGP)
Nystagmus  (IAGP)
Oligogenic inheritance  (IAGP)
Optic atrophy  (IAGP)
Osteopetrosis  (IAGP)
Palmoplantar erythema  (IAGP)
Palmoplantar keratoderma  (IAGP)
Paraparesis  (IAGP)
Patchy palmoplantar hyperkeratosis  (IAGP)
Patchy sclerosis of finger phalanx  (IAGP)
Patent ductus arteriosus  (IAGP)
Persistent pupillary membrane  (IAGP)
Photophobia  (IAGP)
Poor wound healing  (IAGP)
Preaxial hand polydactyly  (IAGP)
Premature loss of primary teeth  (IAGP)
Premature loss of teeth  (IAGP)
Primum atrial septal defect  (IAGP)
Protruding ear  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Ridged nail  (IAGP)
Scaling skin  (IAGP)
Sclerodactyly  (IAGP)
Seizure  (IAGP)
Selective tooth agenesis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short 5th finger  (IAGP)
Short foot  (IAGP)
Short hallux  (IAGP)
Short middle phalanx of the 5th finger  (IAGP)
Short nose  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Short toe  (IAGP)
Skeletal dysplasia  (IAGP)
Skin fissure  (IAGP)
Skin rash  (IAGP)
Slow-growing hair  (IAGP)
Small hand  (IAGP)
Sparse eyebrow  (IAGP)
Sparse eyelashes  (IAGP)
Sparse hair  (IAGP)
Sparse scalp hair  (IAGP)
Spastic paraparesis  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Syndactyly  (IAGP)
Tapered finger  (IAGP)
Taurodontia  (IAGP)
Telecanthus  (IAGP)
Tetraparesis  (IAGP)
Thin vermilion border  (IAGP)
Toe syndactyly  (IAGP)
Tooth agenesis  (IAGP)
Trichorrhexis nodosa  (IAGP)
Umbilical hernia  (IAGP)
Underdeveloped nasal alae  (IAGP)
Unilateral deafness  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventricular septal defect  (IAGP)
Vertebral hyperostosis  (IAGP)
Visual impairment  (IAGP)
Weight loss  (IAGP)
Wide nasal bridge  (IAGP)

References - curated
# Reference Title Reference Citation
1. Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells. Asimaki A, etal., Circ Arrhythm Electrophysiol. 2016 Feb;9(2):e003688. doi: 10.1161/CIRCEP.115.003688.
2. [Effects of glutamine induced heat shock protein 70 overexpression on atrial fibrosis and connexin43 remodeling in isoprenaline-treated rats]. Bao HG, etal., Zhonghua Xin Xue Guan Bing Za Zhi. 2013 Apr;41(4):320-6.
3. Role of the gap junctions in the contractile response to agonists in pulmonary artery from two rat models of pulmonary hypertension. Billaud M, etal., Respir Res. 2011 Mar 17;12:30. doi: 10.1186/1465-9921-12-30.
4. Reduced connexin 43 expression and its effect on the development of vascular lesions in retinas of diabetic mice. Bobbie MW, etal., Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3758-63. doi: 10.1167/iovs.09-4489. Epub 2010 Feb 3.
5. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. Boyden LM, etal., J Invest Dermatol. 2015 Jun;135(6):1540-7. doi: 10.1038/jid.2014.485. Epub 2014 Nov 14.
6. Astrocytic CX43 hemichannels and gap junctions play a crucial role in development of chronic neuropathic pain following spinal cord injury. Chen MJ, etal., Glia. 2012 Nov;60(11):1660-70. doi: 10.1002/glia.22384. Epub 2012 Aug 1.
7. Cellular expression of connexins in the rat brain: neuronal localization, effects of kainate-induced seizures and expression in apoptotic neuronal cells. Condorelli DF, etal., Eur J Neurosci 2003 Oct;18(7):1807-27.
8. Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Dasgupta C, etal., Mutat Res. 2001 Aug 8;479(1-2):173-86.
9. The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans. Dobrowolski R, etal., Hum Mol Genet. 2008 Feb 15;17(4):539-54. Epub 2007 Nov 13.
10. [Expression of connexin 43 in tongue carcinogenesis]. Feng Y, etal., Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Apr;30(2):237-9. doi: 10.3760/cma.j.issn.1003-9406.2013.04.026.
11. Connexins: gaps in our knowledge of vascular function. Figueroa XF, etal., Physiology (Bethesda). 2004 Oct;19:277-84.
12. A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia. Flenniken AM, etal., Development. 2005 Oct;132(19):4375-86.
13. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
14. Reduced cell-cell communication in experimentally induced autoimmune thyroid disease. Green LM, etal., Endocrinology. 1996 Jul;137(7):2823-32.
15. Connexins 43 and 26 are differentially increased after rat bladder outlet obstruction. Haefliger JA, etal., Exp Cell Res. 2002 Apr 1;274(2):216-25.
16. Connexins 40 and 43 are differentially regulated within the kidneys of rats with renovascular hypertension. Haefliger JA, etal., Kidney Int. 2001 Jul;60(1):190-201.
17. Single intravenous low-dose injections of connexin 43 mimetic peptides protect ischemic heart in vivo against myocardial infarction. Hawat G, etal., J Mol Cell Cardiol. 2012 Oct;53(4):559-66. doi: 10.1016/j.yjmcc.2012.07.008. Epub 2012 Jul 27.
18. A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. Hu Y, etal., PLoS One. 2013 Aug 12;8(8):e73576. doi: 10.1371/journal.pone.0073576. eCollection 2013.
19. Hydrogen supplemented air inhalation reduces changes of prooxidant enzyme and gap junction protein levels after transient global cerebral ischemia in the rat hippocampus. Hugyecz M, etal., Brain Res. 2011 Aug 2;1404:31-8. Epub 2011 Jun 12.
20. [Changes of gap junction in penile cavernous smooth muscle cells of hypertensive rats]. Jiang YG, etal., Zhonghua Nan Ke Xue. 2006 Nov;12(11):1010-3.
21. The expression of connexin 43 in children with Tetralogy of Fallot. Kolcz J, etal., Cell Mol Biol Lett. 2005;10(2):287-303.
22. Layer specific changes of astroglial gap junctions in the rat cerebellar cortex by persistent Borna Disease Virus infection. Koster-Patzlaff C, etal., Brain Res. 2008 Jul 11;1219:143-58. doi: 10.1016/j.brainres.2008.04.062. Epub 2008 Apr 30.
23. Structural correlate of atrial fibrillation in human patients. Kostin S, etal., Cardiovasc Res. 2002 May;54(2):361-79.
24. Gap junction remodeling and altered connexin43 expression in the failing human heart. Kostin S, etal., Mol Cell Biochem. 2003 Jan;242(1-2):135-44.
25. Changes of gap junctional cell-cell communication in overactive detrusor in rats. Li L, etal., Am J Physiol Cell Physiol. 2007 Nov;293(5):C1627-35. Epub 2007 Sep 13.
26. Effect of VEGF and CX43 on the promotion of neurological recovery by hyperbaric oxygen treatment in spinal cord-injured rats. Liu X, etal., Spine J. 2014 Jan;14(1):119-27. doi: 10.1016/j.spinee.2013.06.084. Epub 2013 Oct 31.
27. Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Liu XZ, etal., Hum Mol Genet. 2001 Dec 1;10(25):2945-51.
28. Fibrosis of collagen I and remodeling of connexin 43 in atrial myocardium of patients with atrial fibrillation. Luo MH, etal., Cardiology. 2007;107(4):248-53. Epub 2006 Sep 1.
29. Early inner retinal astrocyte dysfunction during diabetes and development of hypoxia, retinal stress, and neuronal functional loss. Ly A, etal., Invest Ophthalmol Vis Sci. 2011 Dec 2;52(13):9316-26. doi: 10.1167/iovs.11-7879.
30. Shengmai San-derived herbal prevents the development of a vulnerable substrate for atrial fibrillation in a rat model of ischemic heart failure. Ma J, etal., Biomed Pharmacother. 2018 Apr;100:156-167. doi: 10.1016/j.biopha.2018.02.013. Epub 2018 Feb 8.
31. 3,5,4'-tri-O-acetylresveratrol ameliorates seawater exposure-induced lung injury by upregulating connexin 43 expression in lung. Ma L, etal., Mediators Inflamm. 2013;2013:182132. doi: 10.1155/2013/182132. Epub 2013 Mar 12.
32. Overexpression of the gap junction protein Cx43 as found in diabetic foot ulcers can retard fibroblast migration. Mendoza-Naranjo A, etal., Cell Biol Int. 2012 Jul;36(7):661-7. doi: 10.1042/CBI20110628.
33. Regulatory effects of myoendothelial gap junction on vascular reactivity after hemorrhagic shock in rats. Ming J, etal., Shock. 2009 Jan;31(1):80-6. doi: 10.1097/SHK.0b013e31817d3eF2-11.
34. Defective lymphatic valve development and chylothorax in mice with a lymphatic-specific deletion of Connexin43. Munger SJ, etal., Dev Biol. 2017 Jan 15;421(2):204-218. doi: 10.1016/j.ydbio.2016.11.017. Epub 2016 Nov 27.
35. Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathy. Noorman M, etal., Heart Rhythm. 2013 Mar;10(3):412-9. doi: 10.1016/j.hrthm.2012.11.018. Epub 2012 Nov 23.
36. Connexin43 mimetic peptide is neuroprotective and improves function following spinal cord injury. O'Carroll SJ, etal., Neurosci Res. 2013 Mar;75(3):256-67. doi: 10.1016/j.neures.2013.01.004. Epub 2013 Feb 8.
37. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
38. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
39. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Paznekas WA, etal., Am J Hum Genet. 2003 Feb;72(2):408-18. Epub 2002 Nov 27.
40. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
41. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
42. Effects of chronic atrial fibrillation on gap junction distribution in human and rat atria. Polontchouk L, etal., J Am Coll Cardiol. 2001 Sep;38(3):883-91.
43. Dietary omega-3 fatty acids attenuate myocardial arrhythmogenic factors and propensity of the heart to lethal arrhythmias in a rodent model of human essential hypertension. Radosinska J, etal., J Hypertens. 2013 Sep;31(9):1876-85. doi: 10.1097/HJH.0b013e328362215d.
44. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
45. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions