CHRNB3 (cholinergic receptor nicotinic beta 3 subunit) - Rat Genome Database

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Gene: CHRNB3 (cholinergic receptor nicotinic beta 3 subunit) Homo sapiens
Analyze
Symbol: CHRNB3
Name: cholinergic receptor nicotinic beta 3 subunit
RGD ID: 1347400
HGNC Page HGNC:1963
Description: Predicted to enable acetylcholine-gated monoatomic cation-selective channel activity. Predicted to contribute to acetylcholine receptor activity. Predicted to be involved in membrane depolarization; response to nicotine; and synaptic signaling. Predicted to be located in postsynaptic membrane and presynapse. Predicted to be part of acetylcholine-gated channel complex. Predicted to be active in dopaminergic synapse; neuron projection; and plasma membrane. Implicated in several diseases, including alcohol dependence; bipolar disorder; cocaine dependence; depressive disorder; and nicotine dependence. Biomarker of major depressive disorder.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: acetylcholine receptor, neuronal nicotinic, beta-3 subunit; acetylcholine receptor, nicotinic, beta 3 (neuronal); cholinergic receptor, nicotinic beta 3; cholinergic receptor, nicotinic, beta 3 (neuronal); cholinergic receptor, nicotinic, beta polypeptide 3; neuronal acetylcholine receptor subunit beta-3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38842,697,366 - 42,737,407 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl842,697,366 - 42,737,407 (+)EnsemblGRCh38hg38GRCh38
GRCh37842,552,509 - 42,592,550 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36842,671,719 - 42,711,366 (+)NCBINCBI36Build 36hg18NCBI36
Build 34842,671,718 - 42,711,366NCBI
Celera841,499,567 - 41,540,205 (+)NCBICelera
Cytogenetic Map8p11.21NCBI
HuRef841,074,730 - 41,114,440 (+)NCBIHuRef
CHM1_1842,599,470 - 42,639,116 (+)NCBICHM1_1
T2T-CHM13v2.0842,965,410 - 43,005,503 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Mammalian nicotinic acetylcholine receptors: from structure to function. Albuquerque EX, etal., Physiol Rev. 2009 Jan;89(1):73-120. doi: 10.1152/physrev.00015.2008.
2. CHRNB3 c.-57A>G functional promoter change affects Parkinson's disease and smoking. Bar-Shira A, etal., Neurobiol Aging. 2014 Sep;35(9):2179.e1-6. doi: 10.1016/j.neurobiolaging.2014.03.014. Epub 2014 Mar 20.
3. Association of genes coding for the alpha-4, alpha-5, beta-2 and beta-3 subunits of nicotinic receptors with cigarette smoking and nicotine dependence. Etter JF, etal., Addict Behav. 2009 Sep;34(9):772-5. doi: 10.1016/j.addbeh.2009.05.010. Epub 2009 May 22.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Rare missense variants in CHRNB3 and CHRNA3 are associated with risk of alcohol and cocaine dependence. Haller G, etal., Hum Mol Genet. 2014 Feb 1;23(3):810-9. doi: 10.1093/hmg/ddt463. Epub 2013 Sep 20.
6. Down-regulation of cholinergic signaling in the habenula induces anhedonia-like behavior. Han S, etal., Sci Rep. 2017 Apr 18;7(1):900. doi: 10.1038/s41598-017-01088-6.
7. Genetic association of bipolar disorder with the β(3) nicotinic receptor subunit gene. Hartz SM, etal., Psychiatr Genet. 2011 Apr;21(2):77-84. doi: 10.1097/YPG.0b013e32834135eb.
8. SNPs in CHRNA6 and CHRNB3 are associated with alcohol consumption in a nationally representative sample. Hoft NR, etal., Genes Brain Behav. 2009 Aug;8(6):631-7. doi: 10.1111/j.1601-183X.2009.00495.x. Epub 2009 Mar 23.
9. Genetic association of the CHRNA6 and CHRNB3 genes with tobacco dependence in a nationally representative sample. Hoft NR, etal., Neuropsychopharmacology. 2009 Feb;34(3):698-706. doi: 10.1038/npp.2008.122. Epub 2008 Aug 13.
10. Reward-related genes and personality traits in alcohol-dependent individuals: a pilot case control study. Landgren S, etal., Neuropsychobiology. 2011;64(1):38-46. doi: 10.1159/000324992. Epub 2011 May 24.
11. Nicotinic cholinergic receptors in the rat retina: simple and mixed heteromeric subtypes. Marritt AM, etal., Mol Pharmacol. 2005 Dec;68(6):1656-68. Epub 2005 Aug 29.
12. Expression of acetylcholine receptors by experimental rat renal allografts. Meixner M, etal., Biomed Res Int. 2014;2014:289656. doi: 10.1155/2014/289656. Epub 2014 Jul 9.
13. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. Cholinergic receptor nicotinic beta 3 subunit polymorphisms and smoking in male Chinese patients with schizophrenia. Shi J, etal., EC Psychol Psychiatr. 2021;10(7):11-23. Epub 2021 Jun 28.
16. Significant association of the CHRNB3-CHRNA6 gene cluster with nicotine dependence in the Chinese Han population. Wen L, etal., Sci Rep. 2017 Aug 29;7(1):9745. doi: 10.1038/s41598-017-09492-8.
Additional References at PubMed
PMID:1505988   PMID:7571003   PMID:7690916   PMID:8088849   PMID:8889548   PMID:8906617   PMID:9009220   PMID:9193799   PMID:9624109   PMID:10336173   PMID:11118490   PMID:12477932  
PMID:12783266   PMID:12912995   PMID:15489334   PMID:16314871   PMID:17135278   PMID:17158188   PMID:17207965   PMID:17373692   PMID:17559419   PMID:18055561   PMID:19059502   PMID:19086053  
PMID:19156168   PMID:19259974   PMID:19760673   PMID:20231857   PMID:20418888   PMID:20584212   PMID:20734064   PMID:20736995   PMID:20840187   PMID:20854418   PMID:20923852   PMID:21831805  
PMID:21873635   PMID:22315221   PMID:22524403   PMID:23319001   PMID:23899432   PMID:23943838   PMID:24001015   PMID:24401102   PMID:24675634   PMID:24792900   PMID:25068303   PMID:25823894  
PMID:26186194   PMID:26318101   PMID:27085880   PMID:27327258   PMID:27645992   PMID:28514442   PMID:29987050   PMID:30021884   PMID:33961781   PMID:35575683   PMID:36724073  


Genomics

Comparative Map Data
CHRNB3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38842,697,366 - 42,737,407 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl842,697,366 - 42,737,407 (+)EnsemblGRCh38hg38GRCh38
GRCh37842,552,509 - 42,592,550 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36842,671,719 - 42,711,366 (+)NCBINCBI36Build 36hg18NCBI36
Build 34842,671,718 - 42,711,366NCBI
Celera841,499,567 - 41,540,205 (+)NCBICelera
Cytogenetic Map8p11.21NCBI
HuRef841,074,730 - 41,114,440 (+)NCBIHuRef
CHM1_1842,599,470 - 42,639,116 (+)NCBICHM1_1
T2T-CHM13v2.0842,965,410 - 43,005,503 (+)NCBIT2T-CHM13v2.0
Chrnb3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39827,858,688 - 27,889,758 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl827,858,739 - 27,889,758 (+)EnsemblGRCm39 Ensembl
GRCm38827,368,711 - 27,399,730 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl827,368,711 - 27,399,730 (+)EnsemblGRCm38mm10GRCm38
MGSCv37828,479,183 - 28,510,202 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36828,834,647 - 28,865,665 (+)NCBIMGSCv36mm8
Celera828,858,231 - 28,889,248 (+)NCBICelera
Cytogenetic Map8A2NCBI
cM Map816.0NCBI
Chrnb3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81671,411,847 - 71,454,225 (-)NCBIGRCr8
mRatBN7.21664,713,438 - 64,751,360 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1664,714,169 - 64,751,360 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1670,005,948 - 70,034,159 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01673,412,292 - 73,440,503 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01668,649,563 - 68,686,751 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01668,876,442 - 68,913,628 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1668,875,709 - 68,913,628 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01668,502,911 - 68,539,031 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41669,028,625 - 69,069,274 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11669,028,830 - 69,069,480 (-)NCBI
Celera1662,637,536 - 62,674,782 (-)NCBICelera
Cytogenetic Map16q12.3NCBI
Chrnb3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955536190,949 - 232,424 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955536189,881 - 229,835 (-)NCBIChiLan1.0ChiLan1.0
CHRNB3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2761,155,811 - 61,195,012 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1836,871,869 - 36,911,058 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0841,947,062 - 41,987,159 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1839,390,959 - 39,430,267 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl839,391,001 - 39,429,926 (+)Ensemblpanpan1.1panPan2
CHRNB3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11623,021,652 - 23,040,907 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1623,021,645 - 23,048,347 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1623,524,646 - 23,545,471 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01624,771,003 - 24,791,610 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1624,772,988 - 24,791,545 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11623,139,564 - 23,160,813 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01623,704,601 - 23,725,844 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01623,755,352 - 23,776,571 (-)NCBIUU_Cfam_GSD_1.0
Chrnb3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494346,089,677 - 46,116,077 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493678546,796 - 72,640 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493678546,076 - 72,529 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHRNB3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1711,687,557 - 11,722,183 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11711,687,646 - 11,714,357 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21712,667,001 - 12,693,124 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CHRNB3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1840,695,061 - 40,730,127 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl840,706,666 - 40,728,963 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660521,043,203 - 1,065,050 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Chrnb3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624780487,006 - 510,056 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624780481,836 - 510,192 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CHRNB3
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3 copy number gain See cases [RCV000050995] Chr8:29719897..48521849 [GRCh38]
Chr8:29577413..49434409 [GRCh37]
Chr8:29633332..49596962 [NCBI36]
Chr8:8p12-q11.21		 pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p12-11.21(chr8:34312250-43158901)x1 copy number loss See cases [RCV000050745] Chr8:34312250..43158901 [GRCh38]
Chr8:34169768..43014044 [GRCh37]
Chr8:34289310..43133201 [NCBI36]
Chr8:8p12-11.21		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p11.21(chr8:42037723-42900363)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052169]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052169]|See cases [RCV000052169] Chr8:42037723..42900363 [GRCh38]
Chr8:41895241..42755506 [GRCh37]
Chr8:42014398..42874663 [NCBI36]
Chr8:8p11.21		 uncertain significance
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21		 pathogenic
GRCh38/hg38 8p11.21-11.1(chr8:42535063-43541633)x3 copy number gain See cases [RCV000053674] Chr8:42535063..43541633 [GRCh38]
Chr8:42390206..43396776 [GRCh37]
Chr8:42509363..43515933 [NCBI36]
Chr8:8p11.21-11.1		 benign
GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3 copy number gain See cases [RCV000053649] Chr8:39830633..49209461 [GRCh38]
Chr8:39688152..50122020 [GRCh37]
Chr8:39807309..50284573 [NCBI36]
Chr8:8p11.22-q11.21		 pathogenic
GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3 copy number gain See cases [RCV000053650] Chr8:39981424..43532444 [GRCh38]
Chr8:39838943..43387587 [GRCh37]
Chr8:39958100..43506744 [NCBI36]
Chr8:8p11.21-11.1		 pathogenic
GRCh38/hg38 8p11.21-q11.21(chr8:41547961-48178799)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053651]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053651]|See cases [RCV000053651] Chr8:41547961..48178799 [GRCh38]
Chr8:41405480..49091359 [GRCh37]
Chr8:41524637..49253912 [NCBI36]
Chr8:8p11.21-q11.21		 pathogenic
GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3 copy number gain See cases [RCV000053652] Chr8:41845699..47893948 [GRCh38]
Chr8:41703217..48806508 [GRCh37]
Chr8:41822374..48969061 [NCBI36]
Chr8:8p11.21-q11.21		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
NM_000749.3(CHRNB3):c.399C>T (p.Val133=) single nucleotide variant Malignant melanoma [RCV000068324] Chr8:42731706 [GRCh38]
Chr8:42586849 [GRCh37]
Chr8:42706006 [NCBI36]
Chr8:8p11.21		 not provided
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1		 pathogenic
GRCh38/hg38 8p11.21(chr8:42236286-42758909)x1 copy number loss See cases [RCV000141648] Chr8:42236286..42758909 [GRCh38]
Chr8:42093804..42614052 [GRCh37]
Chr8:42212961..42733209 [NCBI36]
Chr8:8p11.21		 likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p11.21-11.1(chr8:39960531-43673207)x3 copy number gain See cases [RCV000142663] Chr8:39960531..43673207 [GRCh38]
Chr8:39818050..43528350 [GRCh37]
Chr8:39937207..43647507 [NCBI36]
Chr8:8p11.21-11.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
Single allele deletion Idiopathic basal ganglia calcification 1 [RCV000258007] Chr8:42338721..42916885 [GRCh37]
Chr8:8p11.21		 pathogenic|likely pathogenic
GRCh37/hg19 8p11.21-11.1(chr8:40690198-43388233)x3 copy number gain See cases [RCV000446823] Chr8:40690198..43388233 [GRCh37]
Chr8:8p11.21-11.1		 pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8p11.21(chr8:42303397-43002481)x1 copy number loss not provided [RCV000682997] Chr8:42303397..43002481 [GRCh37]
Chr8:8p11.21		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_000749.5(CHRNB3):c.75C>T (p.Ile25=) single nucleotide variant not provided [RCV000971374] Chr8:42708739 [GRCh38]
Chr8:42563882 [GRCh37]
Chr8:8p11.21		 benign
NC_000008.10:g.(?_42128869)_(43054732_?)dup duplication Severe combined immunodeficiency due to IKK2 deficiency [RCV000803272] Chr8:42128869..43054732 [GRCh37]
Chr8:8p11.21		 uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3		 pathogenic
GRCh37/hg19 8p12-11.1(chr8:36094421-43822214)x3 copy number gain not provided [RCV000848822] Chr8:36094421..43822214 [GRCh37]
Chr8:8p12-11.1		 uncertain significance
GRCh37/hg19 8p11.21(chr8:42582656-42986488)x3 copy number gain not provided [RCV001006101] Chr8:42582656..42986488 [GRCh37]
Chr8:8p11.21		 uncertain significance
NC_000008.10:g.(?_41518984)_(42698237_?)dup duplication Severe combined immunodeficiency due to IKK2 deficiency [RCV003107431] Chr8:41518984..42698237 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.1351A>G (p.Lys451Glu) single nucleotide variant not provided [RCV000884824] Chr8:42736592 [GRCh38]
Chr8:42591735 [GRCh37]
Chr8:8p11.21		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_000749.5(CHRNB3):c.674A>G (p.Tyr225Cys) single nucleotide variant not specified [RCV004610504] Chr8:42731981 [GRCh38]
Chr8:42587124 [GRCh37]
Chr8:8p11.21		 uncertain significance
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p11.21-q11.21(chr8:42162574-48757095) copy number gain not specified [RCV002053760] Chr8:42162574..48757095 [GRCh37]
Chr8:8p11.21-q11.21		 uncertain significance
NC_000008.10:g.(?_41518984)_(43054712_?)dup duplication Torsion dystonia 6 [RCV003116544]|not provided [RCV003109566] Chr8:41518984..43054712 [GRCh37]
Chr8:8p11.21		 uncertain significance|no classifications from unflagged records
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p11.21(chr8:42303398-43002481)x1 copy number loss not provided [RCV002472547] Chr8:42303398..43002481 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_000749.5(CHRNB3):c.313G>A (p.Val105Ile) single nucleotide variant not specified [RCV004134227] Chr8:42730657 [GRCh38]
Chr8:42585800 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.92C>A (p.Ala31Asp) single nucleotide variant not specified [RCV004153969] Chr8:42708756 [GRCh38]
Chr8:42563899 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.1364A>G (p.His455Arg) single nucleotide variant not specified [RCV004114678] Chr8:42736605 [GRCh38]
Chr8:42591748 [GRCh37]
Chr8:8p11.21		 likely benign
NM_000749.5(CHRNB3):c.390G>A (p.Met130Ile) single nucleotide variant not specified [RCV004169949] Chr8:42731697 [GRCh38]
Chr8:42586840 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.1186G>T (p.Ala396Ser) single nucleotide variant not specified [RCV004113297] Chr8:42732493 [GRCh38]
Chr8:42587636 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.422T>C (p.Val141Ala) single nucleotide variant not specified [RCV004203579] Chr8:42731729 [GRCh38]
Chr8:42586872 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.53C>T (p.Ala18Val) single nucleotide variant not specified [RCV004116525] Chr8:42708717 [GRCh38]
Chr8:42563860 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.1072T>C (p.Ser358Pro) single nucleotide variant not specified [RCV004242303] Chr8:42732379 [GRCh38]
Chr8:42587522 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.169T>C (p.Tyr57His) single nucleotide variant not specified [RCV004138483] Chr8:42708833 [GRCh38]
Chr8:42563976 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.702A>C (p.Leu234Phe) single nucleotide variant not specified [RCV004112748] Chr8:42732009 [GRCh38]
Chr8:42587152 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.1124A>G (p.Lys375Arg) single nucleotide variant not specified [RCV004081675] Chr8:42732431 [GRCh38]
Chr8:42587574 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.637A>G (p.Arg213Gly) single nucleotide variant not specified [RCV004158305] Chr8:42731944 [GRCh38]
Chr8:42587087 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.767A>C (p.Tyr256Ser) single nucleotide variant not specified [RCV004079277] Chr8:42732074 [GRCh38]
Chr8:42587217 [GRCh37]
Chr8:8p11.21		 uncertain significance
GRCh37/hg19 8p11.23-q11.21(chr8:36763176-50929707)x3 copy number gain See cases [RCV003329560] Chr8:36763176..50929707 [GRCh37]
Chr8:8p11.23-q11.21		 pathogenic
NM_000749.5(CHRNB3):c.134G>T (p.Arg45Leu) single nucleotide variant not specified [RCV004344531] Chr8:42708798 [GRCh38]
Chr8:42563941 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.655T>C (p.Ser219Pro) single nucleotide variant not specified [RCV004349012] Chr8:42731962 [GRCh38]
Chr8:42587105 [GRCh37]
Chr8:8p11.21		 uncertain significance
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1		 pathogenic
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
NM_000749.5(CHRNB3):c.477T>G (p.Phe159Leu) single nucleotide variant not provided [RCV003435482] Chr8:42731784 [GRCh38]
Chr8:42586927 [GRCh37]
Chr8:8p11.21		 uncertain significance
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
GRCh37/hg19 8p11.23-11.1(chr8:37988714-43780050)x3 copy number gain not specified [RCV003986759] Chr8:37988714..43780050 [GRCh37]
Chr8:8p11.23-11.1		 uncertain significance
GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3 copy number gain not specified [RCV003986761] Chr8:37972810..43837099 [GRCh37]
Chr8:8p11.23-11.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3 copy number gain not specified [RCV003986767] Chr8:20136266..43786723 [GRCh37]
Chr8:8p21.3-11.1		 pathogenic
GRCh37/hg19 8p11.21(chr8:42274263-42690522)x3 copy number gain not specified [RCV003986743] Chr8:42274263..42690522 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.1126A>C (p.Lys376Gln) single nucleotide variant not specified [RCV004441513] Chr8:42732433 [GRCh38]
Chr8:42587576 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.734T>C (p.Leu245Pro) single nucleotide variant not specified [RCV004441519] Chr8:42732041 [GRCh38]
Chr8:42587184 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.1146T>A (p.Ser382Arg) single nucleotide variant not specified [RCV004441514] Chr8:42732453 [GRCh38]
Chr8:42587596 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.655T>G (p.Ser219Ala) single nucleotide variant not specified [RCV004441518] Chr8:42731962 [GRCh38]
Chr8:42587105 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.811G>A (p.Val271Ile) single nucleotide variant not specified [RCV004441520] Chr8:42732118 [GRCh38]
Chr8:42587261 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.202G>A (p.Val68Met) single nucleotide variant not specified [RCV004441515] Chr8:42708866 [GRCh38]
Chr8:42564009 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.416G>A (p.Gly139Glu) single nucleotide variant not specified [RCV004441516] Chr8:42731723 [GRCh38]
Chr8:42586866 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.616G>A (p.Ala206Thr) single nucleotide variant not specified [RCV004441517] Chr8:42731923 [GRCh38]
Chr8:42587066 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.907A>G (p.Ile303Val) single nucleotide variant not specified [RCV004441521] Chr8:42732214 [GRCh38]
Chr8:42587357 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.469G>A (p.Val157Ile) single nucleotide variant not specified [RCV004610507] Chr8:42731776 [GRCh38]
Chr8:42586919 [GRCh37]
Chr8:8p11.21		 uncertain significance
NC_000008.10:g.(?_41518984)_(43054712_?)del deletion not provided [RCV004583305] Chr8:41518984..43054712 [GRCh37]
Chr8:8p11.21		 pathogenic
NM_000749.5(CHRNB3):c.499T>C (p.Cys167Arg) single nucleotide variant not specified [RCV004610505] Chr8:42731806 [GRCh38]
Chr8:42586949 [GRCh37]
Chr8:8p11.21		 uncertain significance
NM_000749.5(CHRNB3):c.398T>A (p.Val133Asp) single nucleotide variant not specified [RCV004610506] Chr8:42731705 [GRCh38]
Chr8:42586848 [GRCh37]
Chr8:8p11.21		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:573
Count of miRNA genes:470
Interacting mature miRNAs:507
Transcripts:ENST00000289957, ENST00000531610, ENST00000534391
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406930161GWAS579137_Hsmoking cessation QTL GWAS579137 (human)4e-10smoking cessation84272781242727813Human
406958803GWAS607779_Hnicotine dependence QTL GWAS607779 (human)0.000001nicotine dependence84273445942734460Human
406989552GWAS638528_Hcigarettes per day measurement QTL GWAS638528 (human)8e-21cigarettes per day measurement84272406042724061Human
407042320GWAS691296_Hcigarettes per day measurement QTL GWAS691296 (human)2e-58cigarettes per day measurement84269776542697766Human
407118343GWAS767319_Hcigarettes per day measurement QTL GWAS767319 (human)1e-32cigarettes per day measurement84272913642729137Human
407231558GWAS880534_Hbone density QTL GWAS880534 (human)2e-17bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)84273432942734330Human
407239729GWAS888705_Hbone density QTL GWAS888705 (human)7e-18bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)84270083242700834Human
407065109GWAS714085_Hnicotine dependence QTL GWAS714085 (human)2e-09nicotine dependence84269749042697491Human
407120850GWAS769826_Hcigarettes per day measurement QTL GWAS769826 (human)8e-33cigarettes per day measurement84272291642722917Human
406928665GWAS577641_Hcigarettes per day measurement QTL GWAS577641 (human)5e-45cigarettes per day measurement84273445942734460Human
406928664GWAS577640_Hcigarettes per day measurement QTL GWAS577640 (human)7e-56cigarettes per day measurement84272406042724061Human
2289597BW470_HBody weight QTL 470 (human)1.3Body weightBMI83977088765770887Human

Markers in Region
D8S1209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37842,557,962 - 42,558,066UniSTSGRCh37
Build 36842,677,119 - 42,677,223RGDNCBI36
Celera841,504,954 - 41,505,058RGD
Cytogenetic Map8p11.2UniSTS
HuRef841,080,161 - 41,080,265UniSTS
CHRNB3_2327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37842,591,629 - 42,592,341UniSTSGRCh37
Build 36842,710,786 - 42,711,498RGDNCBI36
Celera841,539,625 - 41,540,337RGD
HuRef841,113,860 - 41,114,572UniSTS
D8S1981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37842,591,785 - 42,591,850UniSTSGRCh37
Build 36842,710,942 - 42,711,007RGDNCBI36
Celera841,539,781 - 41,539,846RGD
Cytogenetic Map8p11.2UniSTS
HuRef841,114,016 - 41,114,081UniSTS
Whitehead-YAC Contig Map8 UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
128 286 572 368 2539 450 365 54 249 34 315 1014 900 1 2469 117 918 274 23 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_000749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC087533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC103843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU736120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X67513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000289957   ⟹   ENSP00000289957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,697,366 - 42,737,407 (+)Ensembl
Ensembl Acc Id: ENST00000531610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,697,376 - 42,708,758 (+)Ensembl
Ensembl Acc Id: ENST00000534391   ⟹   ENSP00000433913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl842,697,376 - 42,710,435 (+)Ensembl
RefSeq Acc Id: NM_000749   ⟹   NP_000740
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,697,366 - 42,737,407 (+)NCBI
GRCh37842,552,562 - 42,592,209 (+)ENTREZGENE
Build 36842,671,719 - 42,711,366 (+)NCBI Archive
HuRef841,074,730 - 41,114,440 (+)ENTREZGENE
CHM1_1842,599,470 - 42,639,116 (+)NCBI
T2T-CHM13v2.0842,965,410 - 43,005,503 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001347717   ⟹   NP_001334646
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,697,366 - 42,737,407 (+)NCBI
T2T-CHM13v2.0842,965,410 - 43,005,503 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544390   ⟹   XP_011542692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,717,415 - 42,737,407 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054359692   ⟹   XP_054215667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0842,985,530 - 43,005,503 (+)NCBI
RefSeq Acc Id: NP_000740   ⟸   NM_000749
- Peptide Label: isoform 1 precursor
- UniProtKB: Q15827 (UniProtKB/Swiss-Prot),   Q05901 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542692   ⟸   XM_011544390
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001334646   ⟸   NM_001347717
- Peptide Label: isoform 2
- Sequence:
Ensembl Acc Id: ENSP00000433913   ⟸   ENST00000534391
Ensembl Acc Id: ENSP00000289957   ⟸   ENST00000289957
RefSeq Acc Id: XP_054215667   ⟸   XM_054359692
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q05901-F1-model_v2 AlphaFold Q05901 1-458 view protein structure

Promoters
RGD ID:7213221
Promoter ID:EPDNEW_H12356
Type:initiation region
Name:CHRNB3_1
Description:cholinergic receptor nicotinic beta 3 subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38842,697,395 - 42,697,455EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1963 AgrOrtholog
COSMIC CHRNB3 COSMIC
Ensembl Genes ENSG00000147432 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000289957 ENTREZGENE
  ENST00000289957.3 UniProtKB/Swiss-Prot
  ENST00000534391.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.58.390 UniProtKB/Swiss-Prot
  2.70.170.10 UniProtKB/Swiss-Prot
GTEx ENSG00000147432 GTEx
HGNC ID HGNC:1963 ENTREZGENE
Human Proteome Map CHRNB3 Human Proteome Map
InterPro Neur_chan_lig-bd UniProtKB/Swiss-Prot
  Neur_chan_lig-bd_sf UniProtKB/Swiss-Prot
  Neur_channel UniProtKB/Swiss-Prot
  Neuro-gated_channel_TM_sf UniProtKB/Swiss-Prot
  Neuro_actylchol_rec UniProtKB/Swiss-Prot
  Neurotrans-gated_channel_TM UniProtKB/Swiss-Prot
  Neurotransmitter_ion_chnl_CS UniProtKB/Swiss-Prot
  Nicotinic_acetylcholine_rcpt UniProtKB/Swiss-Prot
KEGG Report hsa:1142 UniProtKB/Swiss-Prot
NCBI Gene 1142 ENTREZGENE
OMIM 118508 OMIM
PANTHER NEURONAL ACETYLCHOLINE RECEPTOR SUBUNIT BETA-3 UniProtKB/Swiss-Prot
  PTHR18945 UniProtKB/Swiss-Prot
Pfam Neur_chan_LBD UniProtKB/Swiss-Prot
  Neur_chan_memb UniProtKB/Swiss-Prot
PharmGKB PA26495 PharmGKB
PRINTS NICOTINICR UniProtKB/Swiss-Prot
  NRIONCHANNEL UniProtKB/Swiss-Prot
PROSITE NEUROTR_ION_CHANNEL UniProtKB/Swiss-Prot
Superfamily-SCOP SSF63712 UniProtKB/Swiss-Prot
  SSF90112 UniProtKB/Swiss-Prot
UniProt A0A1D5RMT8_HUMAN UniProtKB/TrEMBL
  ACHB3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q15827 ENTREZGENE
UniProt Secondary Q15827 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CHRNB3  cholinergic receptor nicotinic beta 3 subunit  CHRNB3  cholinergic receptor, nicotinic beta 3  Symbol and/or name change 5135510 APPROVED
2015-12-08 CHRNB3  cholinergic receptor, nicotinic beta 3  CHRNB3  cholinergic receptor, nicotinic, beta 3 (neuronal)  Symbol and/or name change 5135510 APPROVED
2012-02-14 CHRNB3  cholinergic receptor, nicotinic, beta 3 (neuronal)  CHRNB3  cholinergic receptor, nicotinic, beta 3  Symbol and/or name change 5135510 APPROVED