CHRNB2 (GeneID: 740303) | Pan troglodytes
Description: cholinergic receptor nicotinic beta 2 subunit [Source:VGNC Symbol;Acc:VGNC:10570]
Synonyms:
Other ID(s): ENSPTRG00000001389
Protein Accession Numbers: XP_001152392
Statistics: ClinVar(241) gnomAD(529) COSMIC(216)
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.
ENST00000368476 You are here now! NP_000739 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
PF02931 Neur_chan_LBD Neurotransmitter-gated ion-channel ligand binding domain 29-234 Homo sapiens
PF02932 Neur_chan_memb Neurotransmitter-gated ion-channel transmembrane region 241-478 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.619 0.207
Anxiety Disorders Mental Disorders ; 0.619 0.207
Autistic Disorder Mental Disorders ; 0.619 0.207
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.619 0.207
Hypothermia, natural Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Inflammation Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Nerve Degeneration Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Reflex, Abnormal Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Schizophrenia Mental Disorders ; 0.619 0.207
Substance Withdrawal Syndrome Chemically-Induced Disorders ; Mental Disorders ; 0.619 0.207
Sudden infant death syndrome Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Attention Deficit Disorder Mental Disorders ; 0.619 0.207
Epilepsy, Frontal Lobe Nervous System Diseases ; 0.619 0.207
Drug Withdrawal Symptoms Chemically-Induced Disorders ; Mental Disorders ; 0.619 0.207
Withdrawal Symptoms Chemically-Induced Disorders ; Mental Disorders ; 0.619 0.207
Reflex, Corneal, Decreased Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Hyporeflexia Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Hyperreflexia Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Absent reflex Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Reflex, Gag, Absent Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Reflex, Deep Tendon, Absent Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Hypothermia, Accidental Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.619 0.207
Hoffman's Reflex Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Reflex, Pendular Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Reflex, Corneal, Absent Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Anxiety States, Neurotic Mental Disorders ; 0.619 0.207
Frontal Epilepsy, Benign, Childhood Nervous System Diseases ; 0.619 0.207
Epilepsy, Supplementary Motor Nervous System Diseases ; 0.619 0.207
Epilepsy, Cingulate Nervous System Diseases ; 0.619 0.207
Epilepsy, Opercular Nervous System Diseases ; 0.619 0.207
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.619 0.207
Reflex, Acoustic, Abnormal Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Epileptic encephalopathy N/A 0.619 0.207
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.619 0.207
Reflex, Ankle, Absent Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Reflex, Triceps, Absent Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Reflex, Biceps, Absent Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Reflex, Anal, Absent Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Abnormal Deep Tendon Reflex Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.619 0.207
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.619 0.207
Bulbocavernosus Reflex, Decreased Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Bulbocavernousus Reflex Absent Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Palmo-Mental Reflex Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Reflex, Anal, Decreased Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Reflex, Ankle, Abnormal Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Reflex, Ankle, Decreased Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Reflex, Biceps, Abnormal Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Reflex, Biceps, Decreased Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Reflex, Gag, Decreased Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Reflex, Knee, Abnormal Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Reflex, Knee, Decreased Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Reflex, Moro, Asymmetric Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Reflex, Triceps, Abnormal Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Reflex, Triceps, Decreased Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.619 0.207
Long Sleeper Syndrome Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.619 0.207
Short Sleeper Syndrome Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.619 0.207
Sleep-Related Neurogenic Tachypnea Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.619 0.207
Subwakefullness Syndrome Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.619 0.207
Epilepsy, Anterior Fronto-Polar Nervous System Diseases ; 0.619 0.207
Epilepsy, Orbito-Frontal Nervous System Diseases ; 0.619 0.207
Sleep Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.619 0.207
Attention deficit hyperactivity disorder Mental Disorders ; 0.619 0.207
Anxiety neurosis (finding) Mental Disorders ; 0.619 0.207
Minimal Brain Dysfunction Mental Disorders ; 0.619 0.207
Epilepsy, Nocturnal Frontal Lobe, Type 3 Nervous System Diseases ; 0.619 0.207
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Nervous System Diseases ; 0.619 0.207
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.619 0.207
Sleep Wake Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Mental Disorders ; 0.619 0.207
NO RESULT FOUND
feedback