Gja1 (GeneID: 14609) | Mus musculus
Description: gap junction protein, alpha 1 [Source:MGI Symbol;Acc:MGI:95713]
Synonyms: Npm1, connexin43, AU042049, Gja-1, Cnx43, x43, Cx43alpha1, AW546267
Other ID(s): ENSMUSG00000050953, MGI:95713
Protein Accession Numbers: XP_036011510, NP_034418
Statistics: ClinVar(86) gnomAD(292) COSMIC(183) PTM(45)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000282561 You are here now! NP_000156 You are here now!


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00029 Connexin Connexin 3-233 CL0375 Transporter Homo sapiens
PF03508 Connexin43 Gap junction alpha-1 protein (Cx43) 283-361 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Adenoma Neoplasms ; 0.431 0.793
Cardiac Arrhythmia Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.431 0.793
Autistic Disorder Mental Disorders ; 0.431 0.793
Malignant neoplasm of breast Neoplasms ; Skin and Connective Tissue Diseases ; 0.431 0.793
Malignant neoplasm of skin Neoplasms ; Skin and Connective Tissue Diseases ; 0.431 0.793
Coronary Aneurysm Cardiovascular Diseases ; 0.431 0.793
Hallermann's Syndrome Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.431 0.793
Diaphragmatic Hernia Pathological Conditions, Signs and Symptoms ; 0.431 0.793
Hypertensive disease Cardiovascular Diseases ; 0.431 0.793
Palmoplantar Keratosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.431 0.793
Leukodystrophy N/A 0.431 0.793
Liver Cirrhosis, Experimental Digestive System Diseases ; 0.431 0.793
Lung Neoplasms Neoplasms ; Respiratory Tract Diseases ; 0.431 0.793
Lymphatic Diseases Hemic and Lymphatic Diseases ; 0.431 0.793
Myocardial Reperfusion Injury Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.431 0.793
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.431 0.793
Skin Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.431 0.793
Unipolar Depression Mental Disorders ; 0.431 0.793
Cataract Eye Diseases ; 0.431 0.793
Hypoplastic Left Heart Syndrome Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.431 0.793
Anhedonia Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.431 0.793
Adenoma, Basal Cell Neoplasms ; 0.431 0.793
Follicular adenoma Neoplasms ; 0.431 0.793
Adenoma, Microcystic Neoplasms ; 0.431 0.793
Adenoma, Monomorphic Neoplasms ; 0.431 0.793
Papillary adenoma Neoplasms ; 0.431 0.793
Adenoma, Trabecular Neoplasms ; 0.431 0.793
Disease Exacerbation Pathological Conditions, Signs and Symptoms ; 0.431 0.793
Malignant neoplasm of lung Neoplasms ; Respiratory Tract Diseases ; 0.431 0.793
Schwartz-Lelek syndrome Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.431 0.793
Erythrokeratodermia variabilis Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.431 0.793
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.431 0.793
Erythrokeratoderma N/A 0.431 0.793
Breast Carcinoma Neoplasms ; Skin and Connective Tissue Diseases ; 0.431 0.793
Oculo-dento-digital syndrome Musculoskeletal Diseases ; Stomatognathic Diseases ; Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.431 0.793
Mammary Neoplasms, Human Neoplasms ; Skin and Connective Tissue Diseases ; 0.431 0.793
Major Depressive Disorder Mental Disorders ; 0.431 0.793
ATRIOVENTRICULAR CANAL DEFECT Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.431 0.793
Atrioventricular Septal Defect Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.431 0.793
Mammary Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.431 0.793
Greither Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.431 0.793
Abnormality of the cornea N/A 0.431 0.793
SYNDACTYLY, TYPE III Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.431 0.793
Alopecia congenita keratosis palmoplantaris Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Pathological Conditions, Signs and Symptoms ; 0.431 0.793
Oculodentodigital Dysplasia, Autosomal Recessive Musculoskeletal Diseases ; Stomatognathic Diseases ; Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.431 0.793
Craniometaphyseal dysplasia, autosomal recessive type Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.431 0.793
Basaran Yilmaz syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; Pathological Conditions, Signs and Symptoms ; 0.431 0.793
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 N/A 0.431 0.793
ATRIOVENTRICULAR SEPTAL DEFECT 3 N/A 0.431 0.793
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.431 0.793
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 N/A 0.431 0.793
NO RESULT FOUND
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