AutismKB 2.0

Annotation Detail for GJB6


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Basic Information Top
Gene Symbol:GJB6 ( CX30,DFNA3,DFNA3B,DFNB1B,ED2,EDH,HED )
Gene Full Name: gap junction protein, beta 6, 30kDa
Band: 13q12.11
Quick LinksEntrez ID:10804; OMIM: 604418; Uniprot ID:CXB6_HUMAN; ENSEMBL ID: ENSG00000121742; HGNC ID: 4288
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Membrane Trafficking
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1862Conduct disorder
2068Skin disease
2207Deafness
Desease Name
hearing loss, sensorineural nonsyndromic
No data
Desease Name
Ectodermal dysplasia, hidrotic
Deafness, digenic GJB2/GJB6
Deafness, autosomal dominant 3B
Deafness, autosomal recessive 1B
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene results in increased expression of GJB6 mRNAincreases expression 20406850
D000643 Ammonium Chloride Ammonium Chloride affects the expression of GJB6 mRNAaffects expression 16483693
C014707 nitrosobenzylmethylamine nitrosobenzylmethylamine results in increased expression of GJB6 mRNAincreases expression 17616710
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of GJB6 mRNAaffects binding|increases activity|increases expression 19710929
D011374 Progesterone Progesterone affects the expression of GJB6 mRNAaffects expression 17251523
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.1018287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.0216434500
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5219483382
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.9517868700
MESH:D001930 Brain Injuries Progesterone 4.7415665606 15845082 15380490
MESH:D001943 Breast Neoplasms Progesterone 2.4115562024 16175315 17614352
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 1.7916705839
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 3.006135515
MESH:D002779 Cholestasis pirinixic acid 3.0819176532
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.5018551238
OMIM:601544 DEAFNESS, AUTOSOMAL DOMINANT 3A marker/mechanism
OMIM:612643 DEAFNESS, AUTOSOMAL DOMINANT 3B marker/mechanism
OMIM:220290 DEAFNESS, AUTOSOMAL RECESSIVE 1A marker/mechanism
OMIM:612645 DEAFNESS, AUTOSOMAL RECESSIVE 1B marker/mechanism
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D003929 Diabetic Neuropathies Progesterone 4.9817187935
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 2.0418551238 21346803
OMIM:129500 ECTODERMAL DYSPLASIA, HIDROTIC, AUTOSOMAL DOMINANT marker/mechanism
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 4.2217692515
MESH:D004715 Endometriosis Progesterone 4.1116134523
MESH:D004938 Esophageal Neoplasms nitrosobenzylmethylamine 2.8416510608 16704527 15264214 15547721 15547733 15623463 15878914 16805852 15150132
MESH:D005234 Fatty Liver pirinixic acid 3.1420131406 19236843
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006529 Hepatomegaly pirinixic acid 3.4819772884 16221962 19176532 18467677
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.8915869954
MESH:D007249 Inflammation Progesterone 2.7515869954
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.2816705839
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.777678174
MESH:D008113 Liver Neoplasms pirinixic acid 4.7720007298 16377806 15890375
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.742876784 2876786 6135515
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 3.0711408345 17203775
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.407678174 18551238
MESH:D009369 Neoplasms pirinixic acid 2.0917405874
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.7816049721
MESH:D010051 Ovarian Neoplasms Progesterone 2.6117393432 16525653
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9518045962
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7618551238
MESH:D013119 Spinal Cord Injuries Progesterone 4.8216503802 15862959
MESH:D013274 Stomach Neoplasms nitrosobenzylmethylamine 2.3312958204 17575124
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.4016049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.8610091137
Pathway ID Pathway Name
REACT:11123 Membrane Trafficking
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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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