Gene Gene information from NCBI Gene database.
Entrez ID 1143
Gene name Cholinergic receptor nicotinic beta 4 subunit
Gene symbol CHRNB4
Synonyms (NCBI Gene)
-
Chromosome 15
Chromosome location 15q25.1
Summary This gene is found within a conserved gene cluster and encodes one of the beta subunits of the nicotinic acetylcholine receptor (nAChRs) superfamily which form ligand-gated ion channels with a central pore that forms a cation channel. Neuronal nAChRs are
miRNA miRNA information provided by mirtarbase database.
142
miRTarBase ID miRNA Experiments Reference
MIRT018694 hsa-miR-335-5p Microarray 18185580
MIRT892069 hsa-miR-1262 CLIP-seq
MIRT892070 hsa-miR-1293 CLIP-seq
MIRT892071 hsa-miR-1304 CLIP-seq
MIRT892072 hsa-miR-2054 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
ASCL1 Unknown 20124469
SP1 Unknown 10771000
SP3 Unknown 10771000
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
59
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005230 Function Extracellular ligand-gated monoatomic ion channel activity IEA
GO:0005515 Function Protein binding IPI 27344019, 32296183
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
118509 1964 ENSG00000117971
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P30926
Protein name Neuronal acetylcholine receptor subunit beta-4
Protein function Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nA
PDB 6PV7 , 6PV8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02931 Neur_chan_LBD 27 232 Neurotransmitter-gated ion-channel ligand binding domain Family
PF02932 Neur_chan_memb 239 478 Neurotransmitter-gated ion-channel transmembrane region Family
Sequence
Sequence length 498
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Neuroactive ligand-receptor interaction
Cholinergic synapse
Chemical carcinogenesis - receptor activation
  Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
Highly calcium permeable nicotinic acetylcholine receptors
Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
27
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Frontotemporal dementia Likely pathogenic rs2141385401, rs774714066 RCV001848608
RCV001848609
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Amyotrophic lateral sclerosis Benign; Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 25172267
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 19223495
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASDB_DG 19836008
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASCAT_DG 28604730
★☆☆☆☆
Found in Text Mining only
Anhedonia Anhedonia BEFREE 28420875
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 23689675 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 27302872
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 34206324 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 18780872, 19443489, 19706762, 20554942, 20587604, 21229299, 21747048, 22280835, 22438940, 22945651, 23011884, 23029550, 23061658, 23143843, 23591849
View all (7 more)
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma GWASCAT_DG 28604730
★☆☆☆☆
Found in Text Mining only