Gene Symbol:	GJB2 ( CX26,DFNA3,DFNA3A,DFNB1,DFNB1A,HID,KID,NSRD1,PPK )
Gene Full Name:	gap junction protein, beta 2, 26kDa
Band:	13q12.11
Quick Links	Entrez ID:2706; OMIM: 121011; Uniprot ID:CXB2_HUMAN; ENSEMBL ID: ENSG00000165474; HGNC ID: 4284
Relate to Another Database:	SFARIGene; denovo-db

Pathway ID	Pathway Name
500021	Transport of connexons to the plasma membrane
500020	Oligomerization of connexins into connexons

Desease ID	Desease Name
1719	Ectodermal dysplasia
1832	Congenital abnormality
1934	Cancer
2065	Shigella infection
2068	Skin disease
2131	Keratoconjunctivitis Sicca
2207	Deafness

Chemical ID	Chemical Name	Interaction	Interaction Action	Publication
C038983	1,3-dimethylthiourea	1,3-dimethylthiourea results in increased expression of GJB2 mRNA	increases expression	8631141
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of GJB2 mRNA	affects expression	21346803
D000082	Acetaminophen	Acetaminophen affects the expression of GJB2 mRNA	affects expression	17562736
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of GJB2 protein	affects expression	20106945
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of GJB2 mRNA	decreases expression	20064835
C030123	coumarin	coumarin results in increased expression of GJB2 mRNA	increases expression	18480146
D016572	Cyclosporine	Cyclosporine results in decreased expression of GJB2 mRNA	decreases expression	20106945
D004026	Dieldrin	Dieldrin results in decreased expression of GJB2 protein	decreases expression	8068183
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of GJB2 mRNA	increases expression	19638242
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of GJB2 mRNA	increases expression	12370124 15289156
D004121	Dimethyl Sulfoxide	Dimethyl Sulfoxide results in increased expression of GJB2 mRNA	increases expression	8631141
D004958	Estradiol	Estradiol affects the expression of GJB2 mRNA	affects expression	15598610
D004958	Estradiol	Estradiol results in increased expression of GJB2 mRNA	increases expression	15289156 12370124
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of GJB2 mRNA	increases expression	17557909 15576828
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of GJB2 gene	increases mutagenesis	16724327
D015025	Zearalenone	Zearalenone results in increased expression of GJB2 mRNA	increases expression	17557909
D019833	Genistein	Genistein results in increased expression of GJB2 mRNA	increases expression	12370124 15289156
D006534	Heptachlor Epoxide	Heptachlor Epoxide results in decreased expression of GJB2 protein	decreases expression	8068183
D006581	Hexachlorobenzene	Hexachlorobenzene results in decreased expression of GJB2 mRNA	decreases expression	12117784
D006581	Hexachlorobenzene	Hexachlorobenzene results in decreased expression of GJB2 protein	decreases expression	12117784
D019266	Iron, Dietary	Iron, Dietary affects the expression of GJB2 mRNA	affects expression	15637178
C008281	limonene	limonene results in increased expression of GJB2 mRNA	increases expression	12815608
D008769	Methylnitronitrosoguanidine	Methylnitronitrosoguanidine results in increased expression of GJB2 mRNA	increases expression	15120970
D009151	Mustard Gas	Mustard Gas results in increased expression of GJB2 mRNA	increases expression	15674843
D010634	Phenobarbital	GJB2 protein results in increased susceptibility to Phenobarbital	increases response to substance	18308698
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of GJB2 mRNA	affects binding\|increases activity\|increases expression	19710929
C006253	pirinixic acid	pirinixic acid results in decreased expression of GJB2 protein	decreases expression	17624652
D011374	Progesterone	Progesterone affects the expression of GJB2 mRNA	affects expression	17251523
D020849	Raloxifene	Raloxifene results in increased expression of GJB2 mRNA	increases expression	12370124
C017947	sodium arsenite	sodium arsenite results in decreased expression of GJB2 mRNA	decreases expression	14691202
D012967	Sodium Dodecyl Sulfate	Sodium Dodecyl Sulfate results in increased expression of GJB2 mRNA	increases expression	12815608
D013629	Tamoxifen	Tamoxifen results in increased expression of GJB2 mRNA	increases expression	12370124
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of GJB2 mRNA	increases expression	18796159 15591033
D013755	Tetradecanoylphorbol Acetate	Tetradecanoylphorbol Acetate results in decreased expression of GJB2 protein	decreases expression	8068183
D014212	Tretinoin	Tretinoin results in increased expression of GJB2 mRNA	increases expression	16029656
D014520	Urethane	Urethane results in decreased expression of GJB2 mRNA	decreases expression	16926031
D014520	Urethane	Urethane results in decreased expression of GJB2 protein	decreases expression	16926031

Desease Name
GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations
hearing loss/deafness
Hearing Loss, Sensorineural
Deafness
nonsyndromic hearing loss
non-syndromic neurosensory deafness (DFNB1)
hearing loss, sensorineural nonsyndromic
nonsyndromic hearing impairment

Desease Name
Keratoderma, palmoplantar, with deafness
Bart-Pumphrey syndrome
Deafness, autosomal dominant 3A
Keratitis-ichthyosis-deafness syndrome
Vohwinkel syndrome
Hystrix-like ichthyosis with deafness
Deafness, autosomal recessive 1A

Disease ID	Disease Name	Inference Chemical Name	Inference Score	Publication
MESH:D000008	Abdominal Neoplasms	Tamoxifen	4.22	14745880
MESH:D000014	Abnormalities, Drug-Induced	Phenobarbital	7.22	6195326
MESH:D000014	Abnormalities, Drug-Induced	Tetrachlorodibenzodioxin	7.22	14514962 11752688 15322242
MESH:D000152	Acne Vulgaris	Ethinyl Estradiol	3.61	17505938
MESH:D055371	Acute Lung Injury	pirinixic acid	2.82	18653653
MESH:D000230	Adenocarcinoma	Benzo(a)pyrene	12.59	20127859 20464547
MESH:D000230	Adenocarcinoma	Estradiol	12.59	11473722
MESH:D000230	Adenocarcinoma	Ethinyl Estradiol	12.59	14692618
MESH:D000230	Adenocarcinoma	Genistein	12.59	11473722
MESH:D000230	Adenocarcinoma	Urethane	12.59	18316556
MESH:D002282	Adenocarcinoma, Bronchiolo-Alveolar	Urethane	5.38	15814487
MESH:D000236	Adenoma	Benzo(a)pyrene	14.50	6695378
MESH:D000236	Adenoma	Diethylnitrosamine	14.50	6695378 10737359
MESH:D000236	Adenoma	Ethylnitrosourea	14.50	6695378
MESH:D000236	Adenoma	Urethane	14.50	6695378 10530776 10822126 11497255 16926031 17093202 17195641
MESH:D018248	Adenoma, Liver Cell	Diethylnitrosamine	22.17	19052882 17162532 19061943 18056438 17620307 16434500
MESH:D018248	Adenoma, Liver Cell	Phenobarbital	22.17	17620307
MESH:D018248	Adenoma, Liver Cell	pirinixic acid	22.17	16434500
MESH:D018248	Adenoma, Liver Cell	Tetrachlorodibenzodioxin	22.17	16835633
MESH:D000310	Adrenal Gland Neoplasms	sodium arsenite	4.37	15276417
MESH:D018246	Adrenocortical Adenoma	sodium arsenite	4.57	16712894 17306315
MESH:D000419	Albuminuria	Raloxifene	4.29	17451421 17308373
MESH:D000505	Alopecia	Tretinoin	3.36	15955085
MESH:D000544	Alzheimer Disease	Raloxifene	2.47	15800139
MESH:D000686	Amyloidosis	Diethylstilbestrol	4.17	15469931
MESH:D000740	Anemia	Tetrachlorodibenzodioxin	2.67	11748828
MESH:D000799	Angioedema	Acetaminophen	3.51	10982225
MESH:D017544	Aortic Aneurysm, Abdominal	Benzo(a)pyrene	3.76	19183758
MESH:D001161	Arteriosclerosis	Ethinyl Estradiol	3.15	11256880
MESH:D001169	Arthritis, Experimental	Ethinyl Estradiol	6.54	15885639
MESH:D001169	Arthritis, Experimental	Tretinoin	6.54	16412693
MESH:D001172	Arthritis, Rheumatoid	Tretinoin	2.19	16292516
MESH:D001249	Asthma	Mustard Gas	4.63	10378619
MESH:D001249	Asthma	Tretinoin	4.63	16456186
MESH:D001321	Autistic Disorder	Acetaminophen	1.45	18445737
MESH:D001471	Barrett Esophagus	Tretinoin	4.09	16935849
MESH:D001768	Blister	Mustard Gas	4.83	19167455
MESH:D001778	Blood Coagulation Disorders	pirinixic acid	13.59	19483382
MESH:D001778	Blood Coagulation Disorders	Tetrachlorodibenzodioxin	13.59	12125929
MESH:D001778	Blood Coagulation Disorders	Tretinoin	13.59	16206674 16197459

AutismKB 2.0

Annotation Detail for GJB2

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics