CHRNB4
cholinergic receptor nicotinic beta 4 subunit
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 pentameric structures that can be either homomeric or heteromeric, with heteromeric structures containing both alpha and beta subunits. Each subunit contains an extracellular amino terminus and four transmembrane domains. Nicotine is one of the agonists that binds to the receptor. Variants in this gene have been associated with nicotine dependence and lung cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2017]
Known Variants51 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1948 | 15:78,917,399 | A/G | upstream gene variant | benign |
| rs773221717 | 15:78,917,482 | C/T | — | likely benign |
| rs764589144 | 15:78,917,498 | G/A | — | uncertain significance |
| rs757621997 | 15:78,917,515 | T/C | — | uncertain significance |
| rs571462279 | 15:78,917,529 | G/T | — | likely benign |
| rs181037724 | 15:78,917,561 | C/T | — | uncertain significance |
| rs7178270 | 15:78,921,077 | C/A | — | — |
| rs140010358 | 15:78,921,338 | G/A | — | uncertain significance |
| rs56317523 | 15:78,921,343 | G/A | — | benign |
| rs147415583 | 15:78,921,398 | A/G | — | uncertain significance |
| rs375359909 | 15:78,921,464 | C/T | — | uncertain significance |
| rs962959008 | 15:78,921,470 | C/T | — | uncertain significance |
| rs61737499 | 15:78,921,523 | G/A | — | benign |
| rs146687883 | 15:78,921,579 | C/T | — | benign |
| rs56235003 | 15:78,921,602 | A/G | — | likely benign |
| rs751869707 | 15:78,921,625 | A/T | — | uncertain significance |
| rs145795316 | 15:78,921,678 | C/T | — | benign |
| rs754346384 | 15:78,921,719 | T/C | — | uncertain significance |
| rs758697498 | 15:78,921,737 | C/A | — | uncertain significance |
| rs1288768941 | 15:78,921,749 | T/C | — | uncertain significance |
| rs779512885 | 15:78,921,865 | C/T | — | uncertain significance |
| rs71534210 | 15:78,921,927 | G/A | — | benign |
| rs774714066 | 15:78,921,989 | C/T | — | likely pathogenic |
| rs951848242 | 15:78,922,038 | T/C | — | uncertain significance |
| rs777835115 | 15:78,922,054 | C/T | — | uncertain significance |
| rs780934865 | 15:78,922,087 | G/A | — | likely benign |
| rs762191700 | 15:78,922,132 | C/T | — | uncertain significance |
| rs148540431 | 15:78,922,149 | G/C | — | benign |
| rs56218866 | 15:78,922,229 | T/C | missense variant | — |
| rs146597342 | 15:78,922,287 | G/A | — | likely benign |
| rs2869548 | 15:78,922,638 | G/T | — | — |
| rs12914008 | 15:78,923,505 | G/A | missense variant | — |
| rs28534575 | 15:78,923,845 | T/A | — | — |
| rs17487223 | 15:78,923,987 | C/A | — | — |
| rs950776 | 15:78,926,018 | T/A | — | — |
| rs745390394 | 15:78,927,785 | C/A | — | uncertain significance |
| rs2141385401 | 15:78,927,807 | G/A | — | likely pathogenic |
| rs773298633 | 15:78,927,851 | C/T | — | uncertain significance |
| rs138297812 | 15:78,927,861 | T/C | — | uncertain significance |
| rs75495090 | 15:78,927,863 | T/C | — | benign |
| rs548549089 | 15:78,927,869 | C/A | — | uncertain significance |
| rs200466845 | 15:78,927,873 | T/C | — | uncertain significance |
| rs11636753 | 15:78,928,946 | G/T | regulatory region variant | — |
| rs540605951 | 15:78,933,427 | C/T | — | uncertain significance |
| rs373261379 | 15:78,933,435 | G/A | — | uncertain significance |
| rs67426328 | 15:78,934,318 | C/G | upstream gene variant | — |
| rs11633223 | 15:78,935,476 | T/A | — | — |
| rs11634351 | 15:78,944,718 | G/A | regulatory region variant | — |
| rs11638830 | 15:78,948,319 | G/C | upstream gene variant | — |
| rs4887074 | 15:78,952,110 | G/C | downstream gene variant | — |
| rs12899135 | 15:78,954,379 | A/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.