CHRNB3 (cholinergic receptor nicotinic beta 3 subunit)

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 depressive disorder. 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

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	42,697,366 - 42,737,407 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	42,697,366 - 42,737,407 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	42,552,509 - 42,592,550 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	42,671,719 - 42,711,366 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	8	42,671,718 - 42,711,366	NCBI
Celera	8	41,499,567 - 41,540,205 (+)	NCBI		Celera
Cytogenetic Map	8	p11.21	NCBI
HuRef	8	41,074,730 - 41,114,440 (+)	NCBI		HuRef
CHM1_1	8	42,599,470 - 42,639,116 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	8	42,965,410 - 43,005,503 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

depressive disorder (IMP,ISO)

genetic disease (IAGP)

Idiopathic Basal Ganglia Calcification 1 (IAGP)

IMMUNODEFICIENCY 15 (IAGP)

immunodeficiency 15B (IAGP)

major depressive disorder (IEP)

nicotine dependence (EXP)

Tobacco Use Disorder (EXP)

torsion dystonia 6 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(S)-nicotine (ISO)

1,2-dichloroethane (ISO)

4,4'-sulfonyldiphenol (EXP)

acrylamide (ISO)

AM-251 (EXP)

amiodarone (EXP)

amphotericin B (EXP)

arsenite(3-) (ISO)

atrazine (EXP)

benzo[a]pyrene (EXP)

benzo[e]pyrene (EXP)

bisphenol A (EXP,ISO)

calcium silicate (ISO)

carmustine (EXP)

chlorpyrifos (ISO)

cytisine (ISO)

dextran sulfate (ISO)

diazinon (ISO)

dihydro-beta-erythroidine (ISO)

dioxygen (ISO)

epibatidine (ISO)

folic acid (EXP)

methapyrilene (EXP)

methylmercury chloride (ISO)

monosodium L-glutamate (ISO)

nickel atom (ISO)

nicotine (ISO)

resveratrol (EXP)

sirolimus (EXP)

tetrachloromethane (ISO)

titanium dioxide (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

acetylcholine receptor signaling pathway (IBA)

cell communication (IEA)

excitatory postsynaptic potential (IEA)

membrane depolarization (IBA)

monoatomic ion transmembrane transport (IEA)

monoatomic ion transport (IEA)

presynaptic modulation of chemical synaptic transmission (IEA)

regulation of postsynaptic membrane potential (IEA)

response to nicotine (IBA,IEA)

signal transduction (TAS)

signaling (IEA)

synaptic transmission, cholinergic (IBA,TAS)

Cellular Component

acetylcholine-gated channel complex (IBA,IEA,ISO,TAS)

dopaminergic synapse (IEA,ISO)

membrane (IEA,NAS)

neuron projection (IBA,IEA)

plasma membrane (IBA,IEA,TAS)

postsynaptic membrane (IEA)

presynapse (IEA)

protein-containing complex (IEA,ISO)

synapse (IBA,IEA)

Molecular Function

acetylcholine binding (IEA,ISO)

acetylcholine receptor activity (IBA,IEA)

acetylcholine-gated monoatomic cation-selective channel activity (IBA,IEA,TAS)

channel activity (TAS)

extracellular ligand-gated monoatomic ion channel activity (IEA)

heterocyclic compound binding (IEA,ISO)

monoatomic ion channel activity (IEA)

transmembrane signaling receptor activity (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

acetylcholine signaling pathway via nicotinic acetylcholine receptor (TAS)

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.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	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.
4.	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.
5.	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.
6.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

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:18704094	PMID:19059502
PMID:19086053	PMID:19156168	PMID:19259974	PMID:19482438	PMID:19500157	PMID:19760673	PMID:20231857	PMID:20418888	PMID:20584212	PMID:20734064	PMID:20736995	PMID:20840187
PMID:20854418	PMID:20923852	PMID:21191315	PMID:21606657	PMID:21831805	PMID:21873635	PMID:22315221	PMID:22524403	PMID:23319001	PMID:23899432	PMID:23943838	PMID:24001015
PMID:24057674	PMID:24401102	PMID:24675634	PMID:24731518	PMID:24792900	PMID:25068303	PMID:25823894	PMID:26186194	PMID:26318101	PMID:27085880	PMID:27327258	PMID:27645992
PMID:28514442	PMID:28851948	PMID:29987050	PMID:30021884	PMID:33961781	PMID:36724073

Genomics

Comparative Map Data

CHRNB3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	42,697,366 - 42,737,407 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	42,697,366 - 42,737,407 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	42,552,509 - 42,592,550 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	42,671,719 - 42,711,366 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	8	42,671,718 - 42,711,366	NCBI
Celera	8	41,499,567 - 41,540,205 (+)	NCBI		Celera
Cytogenetic Map	8	p11.21	NCBI
HuRef	8	41,074,730 - 41,114,440 (+)	NCBI		HuRef
CHM1_1	8	42,599,470 - 42,639,116 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	8	42,965,410 - 43,005,503 (+)	NCBI		T2T-CHM13v2.0

Chrnb3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	27,858,688 - 27,889,758 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	27,858,739 - 27,889,758 (+)	Ensembl		GRCm39 Ensembl
GRCm38	8	27,368,711 - 27,399,730 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	27,368,711 - 27,399,730 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	28,479,183 - 28,510,202 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	28,834,647 - 28,865,665 (+)	NCBI		MGSCv36	mm8
Celera	8	28,858,231 - 28,889,248 (+)	NCBI		Celera
Cytogenetic Map	8	A2	NCBI
cM Map	8	16.0	NCBI

Chrnb3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	16	71,411,847 - 71,454,225 (-)	NCBI		GRCr8
mRatBN7.2	16	64,713,438 - 64,751,360 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	16	64,714,169 - 64,751,360 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	16	70,005,948 - 70,034,159 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	16	73,412,292 - 73,440,503 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	16	68,649,563 - 68,686,751 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	16	68,876,442 - 68,913,628 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	16	68,875,709 - 68,913,628 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	16	68,502,911 - 68,539,031 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	16	69,028,625 - 69,069,274 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	16	69,028,830 - 69,069,480 (-)	NCBI
Celera	16	62,637,536 - 62,674,782 (-)	NCBI		Celera
Cytogenetic Map	16	q12.3	NCBI

Chrnb3
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955536	190,949 - 232,424 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955536	189,881 - 229,835 (-)	NCBI	ChiLan1.0	ChiLan1.0

CHRNB3
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	7	61,155,811 - 61,195,012 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	8	36,871,869 - 36,911,058 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	8	41,947,062 - 41,987,159 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	8	39,390,959 - 39,430,267 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	8	39,391,001 - 39,429,926 (+)	Ensembl	panpan1.1		panPan2

CHRNB3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	16	23,021,652 - 23,040,907 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	16	23,021,645 - 23,048,347 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	16	23,524,646 - 23,545,471 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	16	24,771,003 - 24,791,610 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	16	24,772,988 - 24,791,545 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	16	23,139,564 - 23,160,813 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	16	23,704,601 - 23,725,844 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	16	23,755,352 - 23,776,571 (-)	NCBI		UU_Cfam_GSD_1.0

Chrnb3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404943	46,089,677 - 46,116,077 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936785	46,796 - 72,640 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936785	46,076 - 72,529 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CHRNB3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	17	11,687,557 - 11,722,183 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	17	11,687,646 - 11,714,357 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	17	12,667,001 - 12,693,124 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CHRNB3
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	8	40,695,061 - 40,730,127 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	8	40,706,666 - 40,728,963 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666052	1,043,203 - 1,065,050 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Chrnb3
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624780	487,006 - 510,056 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624780	481,836 - 510,192 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CHRNB3
26 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
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	Inborn genetic diseases [RCV002840218]	Chr8:42730657 [GRCh38] Chr8:42585800 [GRCh37] Chr8:8p11.21	uncertain significance
NM_000749.5(CHRNB3):c.92C>A (p.Ala31Asp)	single nucleotide variant	Inborn genetic diseases [RCV002883009]	Chr8:42708756 [GRCh38] Chr8:42563899 [GRCh37] Chr8:8p11.21	uncertain significance
NM_000749.5(CHRNB3):c.1364A>G (p.His455Arg)	single nucleotide variant	Inborn genetic diseases [RCV002777527]	Chr8:42736605 [GRCh38] Chr8:42591748 [GRCh37] Chr8:8p11.21	likely benign
NM_000749.5(CHRNB3):c.390G>A (p.Met130Ile)	single nucleotide variant	Inborn genetic diseases [RCV002911859]	Chr8:42731697 [GRCh38] Chr8:42586840 [GRCh37] Chr8:8p11.21	uncertain significance
NM_000749.5(CHRNB3):c.1186G>T (p.Ala396Ser)	single nucleotide variant	Inborn genetic diseases [RCV002757870]	Chr8:42732493 [GRCh38] Chr8:42587636 [GRCh37] Chr8:8p11.21	uncertain significance
NM_000749.5(CHRNB3):c.422T>C (p.Val141Ala)	single nucleotide variant	Inborn genetic diseases [RCV002984075]	Chr8:42731729 [GRCh38] Chr8:42586872 [GRCh37] Chr8:8p11.21	uncertain significance
NM_000749.5(CHRNB3):c.53C>T (p.Ala18Val)	single nucleotide variant	Inborn genetic diseases [RCV002803571]	Chr8:42708717 [GRCh38] Chr8:42563860 [GRCh37] Chr8:8p11.21	uncertain significance
NM_000749.5(CHRNB3):c.1072T>C (p.Ser358Pro)	single nucleotide variant	Inborn genetic diseases [RCV002765279]	Chr8:42732379 [GRCh38] Chr8:42587522 [GRCh37] Chr8:8p11.21	uncertain significance
NM_000749.5(CHRNB3):c.169T>C (p.Tyr57His)	single nucleotide variant	Inborn genetic diseases [RCV002836272]	Chr8:42708833 [GRCh38] Chr8:42563976 [GRCh37] Chr8:8p11.21	uncertain significance
NM_000749.5(CHRNB3):c.702A>C (p.Leu234Phe)	single nucleotide variant	Inborn genetic diseases [RCV002807849]	Chr8:42732009 [GRCh38] Chr8:42587152 [GRCh37] Chr8:8p11.21	uncertain significance
NM_000749.5(CHRNB3):c.1124A>G (p.Lys375Arg)	single nucleotide variant	Inborn genetic diseases [RCV002668736]	Chr8:42732431 [GRCh38] Chr8:42587574 [GRCh37] Chr8:8p11.21	uncertain significance
NM_000749.5(CHRNB3):c.637A>G (p.Arg213Gly)	single nucleotide variant	Inborn genetic diseases [RCV002896617]	Chr8:42731944 [GRCh38] Chr8:42587087 [GRCh37] Chr8:8p11.21	uncertain significance
NM_000749.5(CHRNB3):c.767A>C (p.Tyr256Ser)	single nucleotide variant	Inborn genetic diseases [RCV002652872]	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.655T>C (p.Ser219Pro)	single nucleotide variant	Inborn genetic diseases [RCV003369335]	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.134G>T (p.Arg45Leu)	single nucleotide variant	Inborn genetic diseases [RCV003359596]	Chr8:42708798 [GRCh38] Chr8:42563941 [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.

Markers in Region

D8S1209

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	42,557,962 - 42,558,066	UniSTS	GRCh37
Build 36	8	42,677,119 - 42,677,223	RGD	NCBI36
Celera	8	41,504,954 - 41,505,058	RGD
Cytogenetic Map	8	p11.2	UniSTS
HuRef	8	41,080,161 - 41,080,265	UniSTS

CHRNB3_2327

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	42,591,629 - 42,592,341	UniSTS	GRCh37
Build 36	8	42,710,786 - 42,711,498	RGD	NCBI36
Celera	8	41,539,625 - 41,540,337	RGD
HuRef	8	41,113,860 - 41,114,572	UniSTS

D8S1981

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	8	42,591,785 - 42,591,850	UniSTS	GRCh37
Build 36	8	42,710,942 - 42,711,007	RGD	NCBI36
Celera	8	41,539,781 - 41,539,846	RGD
Cytogenetic Map	8	p11.2	UniSTS
HuRef	8	41,114,016 - 41,114,081	UniSTS
Whitehead-YAC Contig Map	8		UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

High

Medium

Low

619

346

Below cutoff

286

454

421

245

803

299

1833

308

264

128

571

View RNA-SEQ Expression Data

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

RefSeq Acc Id:

ENST00000289957 ⟹ ENSP00000289957

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	42,697,366 - 42,737,407 (+)	Ensembl

RefSeq Acc Id:

ENST00000531610

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	42,697,376 - 42,708,758 (+)	Ensembl

RefSeq Acc Id:

ENST00000534391 ⟹ ENSP00000433913

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	8	42,697,376 - 42,710,435 (+)	Ensembl

RefSeq Acc Id:

NM_000749 ⟹ NP_000740

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	42,697,366 - 42,737,407 (+)	NCBI
GRCh37	8	42,552,562 - 42,592,209 (+)	ENTREZGENE
Build 36	8	42,671,719 - 42,711,366 (+)	NCBI Archive
HuRef	8	41,074,730 - 41,114,440 (+)	ENTREZGENE
CHM1_1	8	42,599,470 - 42,639,116 (+)	NCBI
T2T-CHM13v2.0	8	42,965,410 - 43,005,503 (+)	NCBI

Sequence:

show sequence

GAGAAGCGGCACACTCGGCGAGAGGGGTTGAGATTGTTTTATTCCACTCCAGGTGTTGCTGTCC
TCTTGGGTTCCACTTCGGATTTTGAACCCCTGTATTTTCTTTTCAAAACCCCCTTTTCCAGTGG
AAATGCTCTGTTGTTAAAAAGGAAGAAACTGTCTTTCTGAAACTGACATCACGATGCTCCCAGA
TTTTATGCTGGTTCTCATCGTCCTTGGCATCCCTTCCTCAGCCACCACAGGTTTCAACTCAATC
GCCGAAAATGAAGATGCCCTCCTCAGACATTTGTTCCAAGGTTATCAGAAATGGGTCCGCCCTG
TATTACATTCTAATGACACCATAAAAGTATATTTTGGATTGAAAATATCCCAGCTTGTAGATGT
GGATGAAAAGAATCAGCTGATGACAACCAATGTGTGGCTCAAACAGGAATGGACAGACCACAAG
TTACGCTGGAATCCTGATGATTATGGTGGGATCCATTCCATTAAAGTTCCATCAGAATCTCTGT
GGCTTCCTGACATAGTTCTCTTTGAAAATGCTGACGGCCGCTTCGAAGGCTCCCTGATGACCAA
GGTCATCGTGAAATCAAACGGAACTGTTGTCTGGACCCCTCCCGCCAGCTACAAAAGCTCCTGC
ACCATGGACGTCACGTTTTTCCCGTTCGACCGACAGAACTGCTCCATGAAGTTTGGATCCTGGA
CTTATGATGGCACCATGGTTGACCTCATTTTGATCAATGAAAATGTCGACAGAAAAGACTTCTT
CGATAACGGAGAATGGGAAATACTGAACGCAAAGGGGATGAAGGGGAACAGAAGGGACGGCGTG
TACTCCTATCCCTTTATCACGTATTCCTTCGTCCTGAGACGCCTGCCTTTATTCTATACCCTCT
TTCTCATCATCCCCTGCCTGGGGCTGTCTTTCCTAACAGTTCTTGTGTTCTATTTACCTTCGGA
TGAAGGAGAAAAACTTTCATTATCCACATCGGTCTTGGTTTCTCTGACAGTTTTCCTTTTAGTG
ATTGAAGAAATCATCCCATCGTCTTCCAAAGTCATTCCTCTCATTGGAGAGTACCTGCTGTTCA
TCATGATTTTTGTGACCCTGTCCATCATTGTTACCGTGTTTGTCATTAACGTTCACCACAGATC
TTCTTCCACGTACCACCCCATGGCCCCCTGGGTTAAGAGGCTCTTTCTGCAGAAACTTCCAAAA
TTACTTTGCATGAAAGATCATGTGGATCGCTACTCATCCCCAGAGAAAGAGGAGAGTCAACCAG
TAGTGAAAGGCAAAGTCCTCGAAAAAAAGAAACAGAAACAGCTTAGTGATGGAGAAAAAGTTCT
AGTTGCTTTTTTGGAAAAAGCTGCTGATTCCATTAGATACATTTCGAGACATGTGAAGAAAGAA
CATTTTATCAGCCAGGTAGTACAAGACTGGAAATTTGTAGCTCAAGTTCTTGACCGAATCTTCC
TGTGGCTCTTTCTGATAGTGTCAGTAACAGGCTCGGTTCTGATTTTTACCCCTGCTTTGAAGAT
GTGGCTACATAGTTACCATTAGGAATTTAAAAGACATAAGACTAAATTACACCTTAGACCTGAC
ATCTGGCTATCACACAGACAGAATCCAAATGCATGTGCTTGTTCTACGAACCCCGAATGCGTTG
TCTTTGTGGAAATGGAACATCTCCTCATGGGAGAAACTCTGGTAAATGTGCTCATTTGTGGTTG
CCATGAGAGTGAGCTGCTTTTAAAGAAAGTGGAGCCTCCTCAGACCCCTGCCTTGGCTTTCCCA
GACATTCAGGGAGGGATCATAGGTCCAGGCTTGAGCTCACATGTGGCCAGAGTGCACAAAAAGC
TGTTGCTACTTGGTGGAGGAACACCTCCTAGAAGCAGCAGGCCTCGGTGGTGGGGGAGGGGGGA
TTCACCTGGAATTAAGGAAGTCTCGGTGTCGAGCTATCTGTGTGGGCAGAGCCTGGATCTCCCA
CCCTGCACTGGCCTCCTTGGTGGTTTTGTCTGAGCTGCAAACTGGGGCCGTGTTATGCTTGTTA
GCAATGGGCCAGGCAAATCTCAACAAGGGTTTGGGGATTACACTGGCAGGATAGCTGGCACTGC
ACACTTAACAATAACACAGATTCCAAGTTGCCTGGCCTACCGAAGCAGGTGTTATTCATGGTTT
ATTCCCAGCATGATAAGGCTTTCAGATGGTGAAACTGGAGCCCACTGTGAGCTGTGACTTCCTT
TAAGGTCATGCATACCAAAATAACTCACAATAGAAACAAAGCCCTTTGCTACCAGAAGTGGATT
CATTAATACCCATTATCTTTTCCTAGTAAACTAGTGTACAGAA

hide sequence

RefSeq Acc Id:

NM_001347717 ⟹ NP_001334646

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	42,697,366 - 42,737,407 (+)	NCBI
T2T-CHM13v2.0	8	42,965,410 - 43,005,503 (+)	NCBI

Sequence:

show sequence

GAGAAGCGGCACACTCGGCGAGAGGGGTTGAGATTGTTTTATTCCACTCCAGGTGTTGCTGTCC
TCTTGGGTTCCACTTCGGATTTTGAACCCCTGTATTTTCTTTTCAAAACCCCCTTTTCCAGTGG
AAATGCTCTGTTGTTAAAAAGGAAGAAACTGTCTTTCTGAAACTGACATCACGATGCTCCCAGA
TTTTATGCTGGTTCTCATCGTCCTTGGCATCCCTTCCTCAGACGGAAAGTGCACCTTCTGACAG
TGGTAACACAGGTGGAGATGTATGCTGTGCGTGAAAGAGCAGAGCTGCTTGCTGCCCCTGGATC
TTGGTGAGGAGCAGGATTCCTGTACCTTCACAGGGAGCACAGCTGCCCACCACAGGTTTCAACT
CAATCGCCGAAAATGAAGATGCCCTCCTCAGACATTTGTTCCAAGGTTATCAGAAATGGGTCCG
CCCTGTATTACATTCTAATGACACCATAAAAGTATATTTTGGATTGAAAATATCCCAGCTTGTA
GATGTGGATGAAAAGAATCAGCTGATGACAACCAATGTGTGGCTCAAACAGGAATGGACAGACC
ACAAGTTACGCTGGAATCCTGATGATTATGGTGGGATCCATTCCATTAAAGTTCCATCAGAATC
TCTGTGGCTTCCTGACATAGTTCTCTTTGAAAATGCTGACGGCCGCTTCGAAGGCTCCCTGATG
ACCAAGGTCATCGTGAAATCAAACGGAACTGTTGTCTGGACCCCTCCCGCCAGCTACAAAAGCT
CCTGCACCATGGACGTCACGTTTTTCCCGTTCGACCGACAGAACTGCTCCATGAAGTTTGGATC
CTGGACTTATGATGGCACCATGGTTGACCTCATTTTGATCAATGAAAATGTCGACAGAAAAGAC
TTCTTCGATAACGGAGAATGGGAAATACTGAACGCAAAGGGGATGAAGGGGAACAGAAGGGACG
GCGTGTACTCCTATCCCTTTATCACGTATTCCTTCGTCCTGAGACGCCTGCCTTTATTCTATAC
CCTCTTTCTCATCATCCCCTGCCTGGGGCTGTCTTTCCTAACAGTTCTTGTGTTCTATTTACCT
TCGGATGAAGGAGAAAAACTTTCATTATCCACATCGGTCTTGGTTTCTCTGACAGTTTTCCTTT
TAGTGATTGAAGAAATCATCCCATCGTCTTCCAAAGTCATTCCTCTCATTGGAGAGTACCTGCT
GTTCATCATGATTTTTGTGACCCTGTCCATCATTGTTACCGTGTTTGTCATTAACGTTCACCAC
AGATCTTCTTCCACGTACCACCCCATGGCCCCCTGGGTTAAGAGGCTCTTTCTGCAGAAACTTC
CAAAATTACTTTGCATGAAAGATCATGTGGATCGCTACTCATCCCCAGAGAAAGAGGAGAGTCA
ACCAGTAGTGAAAGGCAAAGTCCTCGAAAAAAAGAAACAGAAACAGCTTAGTGATGGAGAAAAA
GTTCTAGTTGCTTTTTTGGAAAAAGCTGCTGATTCCATTAGATACATTTCGAGACATGTGAAGA
AAGAACATTTTATCAGCCAGGTAGTACAAGACTGGAAATTTGTAGCTCAAGTTCTTGACCGAAT
CTTCCTGTGGCTCTTTCTGATAGTGTCAGTAACAGGCTCGGTTCTGATTTTTACCCCTGCTTTG
AAGATGTGGCTACATAGTTACCATTAGGAATTTAAAAGACATAAGACTAAATTACACCTTAGAC
CTGACATCTGGCTATCACACAGACAGAATCCAAATGCATGTGCTTGTTCTACGAACCCCGAATG
CGTTGTCTTTGTGGAAATGGAACATCTCCTCATGGGAGAAACTCTGGTAAATGTGCTCATTTGT
GGTTGCCATGAGAGTGAGCTGCTTTTAAAGAAAGTGGAGCCTCCTCAGACCCCTGCCTTGGCTT
TCCCAGACATTCAGGGAGGGATCATAGGTCCAGGCTTGAGCTCACATGTGGCCAGAGTGCACAA
AAAGCTGTTGCTACTTGGTGGAGGAACACCTCCTAGAAGCAGCAGGCCTCGGTGGTGGGGGAGG
GGGGATTCACCTGGAATTAAGGAAGTCTCGGTGTCGAGCTATCTGTGTGGGCAGAGCCTGGATC
TCCCACCCTGCACTGGCCTCCTTGGTGGTTTTGTCTGAGCTGCAAACTGGGGCCGTGTTATGCT
TGTTAGCAATGGGCCAGGCAAATCTCAACAAGGGTTTGGGGATTACACTGGCAGGATAGCTGGC
ACTGCACACTTAACAATAACACAGATTCCAAGTTGCCTGGCCTACCGAAGCAGGTGTTATTCAT
GGTTTATTCCCAGCATGATAAGGCTTTCAGATGGTGAAACTGGAGCCCACTGTGAGCTGTGACT
TCCTTTAAGGTCATGCATACCAAAATAACTCACAATAGAAACAAAGCCCTTTGCTACCAGAAGT
GGATTCATTAATACCCATTATCTTTTCCTAGTAAACTAGTGTACAGAA

hide sequence

RefSeq Acc Id:

XM_011544390 ⟹ XP_011542692

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	8	42,717,415 - 42,737,407 (+)	NCBI

Sequence:

show sequence

AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCGACCTGTTGTGGAAAGGTCAGGCTAGTAC
TAGAGGTCTGGGTGATCTCCCCAAAAGTCTACCATCCGCAACCTGGAATGGCACTTACAAGTTC
ATGAATTCATCTCAGATCTTTACTCATGATCTGATTTTCCTTCCTTTTCTACAACCTTACTCTG
ACCTTAGCAAAGGAGGCCAAGTTTGGACTTCTTACTCAAGTGGACCCTGGAATGGACAGACCAC
AAGTTACGCTGGAATCCTGATGATTATGGTGGGATCCATTCCATTAAAGTTCCATCAGAATCTC
TGTGGCTTCCTGACATAGTTCTCTTTGAAAATGCTGACGGCCGCTTCGAAGGCTCCCTGATGAC
CAAGGTCATCGTGAAATCAAACGGAACTGTTGTCTGGACCCCTCCCGCCAGCTACAAAAGCTCC
TGCACCATGGACGTCACGTTTTTCCCGTTCGACCGACAGAACTGCTCCATGAAGTTTGGATCCT
GGACTTATGATGGCACCATGGTTGACCTCATTTTGATCAATGAAAATGTCGACAGAAAAGACTT
CTTCGATAACGGAGAATGGGAAATACTGAACGCAAAGGGGATGAAGGGGAACAGAAGGGACGGC
GTGTACTCCTATCCCTTTATCACGTATTCCTTCGTCCTGAGACGCCTGCCTTTATTCTATACCC
TCTTTCTCATCATCCCCTGCCTGGGGCTGTCTTTCCTAACAGTTCTTGTGTTCTATTTACCTTC
GGATGAAGGAGAAAAACTTTCATTATCCACATCGGTCTTGGTTTCTCTGACAGTTTTCCTTTTA
GTGATTGAAGAAATCATCCCATCGTCTTCCAAAGTCATTCCTCTCATTGGAGAGTACCTGCTGT
TCATCATGATTTTTGTGACCCTGTCCATCATTGTTACCGTGTTTGTCATTAACGTTCACCACAG
ATCTTCTTCCACGTACCACCCCATGGCCCCCTGGGTTAAGAGGCTCTTTCTGCAGAAACTTCCA
AAATTACTTTGCATGAAAGATCATGTGGATCGCTACTCATCCCCAGAGAAAGAGGAGAGTCAAC
CAGTAGTGAAAGGCAAAGTCCTCGAAAAAAAGAAACAGAAACAGCTTAGTGATGGAGAAAAAGT
TCTAGTTGCTTTTTTGGAAAAAGCTGCTGATTCCATTAGATACATTTCGAGACATGTGAAGAAA
GAACATTTTATCAGCCAGGTAGTACAAGACTGGAAATTTGTAGCTCAAGTTCTTGACCGAATCT
TCCTGTGGCTCTTTCTGATAGTGTCAGTAACAGGCTCGGTTCTGATTTTTACCCCTGCTTTGAA
GATGTGGCTACATAGTTACCATTAGGAATTTAAAAGACATAAGACTAAATTACACCTTAGACCT
GACATCTGGCTATCACACAGACAGAATCCAAATGCATGTGCTTGTTCTACGAACCCCGAATGCG
TTGTCTTTGTGGAAATGGAACATCTCCTCATGGGAGAAACTCTGGTAAATGTGCTCATTTGTGG
TTGCCATGAGAGTGAGCTGCTTTTAAAGAAAGTGGAGCCTCCTCAGACCCCTGCCTTGGCTTTC
CCAGACATTCAGGGAGGGATCATAGGTCCAGGCTTGAGCTCACATGTGGCCAGAGTGCACAAAA
AGCTGTTGCTACTTGGTGGAGGAACACCTCCTAGAAGCAGCAGGCCTCGGTGGTGGGGGAGGGG
GGATTCACCTGGAATTAAGGAAGTCTCGGTGTCGAGCTATCTGTGTGGGCAGAGCCTGGATCTC
CCACCCTGCACTGGCCTCCTTGGTGGTTTTGTCTGAGCTGCAAACTGGGGCCGTGTTATGCTTG
TTAGCAATGGGCCAGGCAAATCTCAACAAGGGTTTGGGGATTACACTGGCAGGATAGCTGGCAC
TGCACACTTAACAATAACACAGATTCCAAGTTGCCTGGCCTACCGAAGCAGGTGTTATTCATGG
TTTATTCCCAGCATGATAAGGCTTTCAGATGGTGAAACTGGAGCCCACTGTGAGCTGTGACTTC
CTTTAAGGTCATGCATACCAAAATAACTCACAATAGAAACAAAGCCCTTTGCTACCAGAAGTGG
ATTCATTAATACCCATTATCTTTTCCTAGTAAACTAGTGTACAGAA

hide sequence

RefSeq Acc Id:

XM_054359692 ⟹ XP_054215667

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	8	42,985,530 - 43,005,503 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_000740	(Get FASTA)	NCBI Sequence Viewer
	NP_001334646	(Get FASTA)	NCBI Sequence Viewer
	XP_011542692	(Get FASTA)	NCBI Sequence Viewer
	XP_054215667	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB40116	(Get FASTA)	NCBI Sequence Viewer
	AAD33063	(Get FASTA)	NCBI Sequence Viewer
	AAH69681	(Get FASTA)	NCBI Sequence Viewer
	AAH69703	(Get FASTA)	NCBI Sequence Viewer
	AAH69788	(Get FASTA)	NCBI Sequence Viewer
	CAA47851	(Get FASTA)	NCBI Sequence Viewer
	CAA69694	(Get FASTA)	NCBI Sequence Viewer
	EAW63208	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000289957
	ENSP00000289957.2
	ENSP00000433913.1
GenBank Protein	Q05901	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_000740 ⟸ NM_000749
- Peptide Label:	isoform 1 precursor
- UniProtKB:	Q15827 (UniProtKB/Swiss-Prot), Q05901 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLPDFMLVLIVLGIPSSATTGFNSIAENEDALLRHLFQGYQKWVRPVLHSNDTIKVYFGLKISQ LVDVDEKNQLMTTNVWLKQEWTDHKLRWNPDDYGGIHSIKVPSESLWLPDIVLFENADGRFEGS LMTKVIVKSNGTVVWTPPASYKSSCTMDVTFFPFDRQNCSMKFGSWTYDGTMVDLILINENVDR KDFFDNGEWEILNAKGMKGNRRDGVYSYPFITYSFVLRRLPLFYTLFLIIPCLGLSFLTVLVFY LPSDEGEKLSLSTSVLVSLTVFLLVIEEIIPSSSKVIPLIGEYLLFIMIFVTLSIIVTVFVINV HHRSSSTYHPMAPWVKRLFLQKLPKLLCMKDHVDRYSSPEKEESQPVVKGKVLEKKKQKQLSDG EKVLVAFLEKAADSIRYISRHVKKEHFISQVVQDWKFVAQVLDRIFLWLFLIVSVTGSVLIFTP ALKMWLHSYH hide sequence

RefSeq Acc Id:

XP_011542692 ⟸ XM_011544390

- Peptide Label:

isoform X1

- Sequence:

show sequence

MTKVIVKSNGTVVWTPPASYKSSCTMDVTFFPFDRQNCSMKFGSWTYDGTMVDLILINENVDRK
DFFDNGEWEILNAKGMKGNRRDGVYSYPFITYSFVLRRLPLFYTLFLIIPCLGLSFLTVLVFYL
PSDEGEKLSLSTSVLVSLTVFLLVIEEIIPSSSKVIPLIGEYLLFIMIFVTLSIIVTVFVINVH
HRSSSTYHPMAPWVKRLFLQKLPKLLCMKDHVDRYSSPEKEESQPVVKGKVLEKKKQKQLSDGE
KVLVAFLEKAADSIRYISRHVKKEHFISQVVQDWKFVAQVLDRIFLWLFLIVSVTGSVLIFTPA
LKMWLHSYH

hide sequence

RefSeq Acc Id:

NP_001334646 ⟸ NM_001347717

- Peptide Label:

isoform 2

- Sequence:

show sequence

MTTNVWLKQEWTDHKLRWNPDDYGGIHSIKVPSESLWLPDIVLFENADGRFEGSLMTKVIVKSN
GTVVWTPPASYKSSCTMDVTFFPFDRQNCSMKFGSWTYDGTMVDLILINENVDRKDFFDNGEWE
ILNAKGMKGNRRDGVYSYPFITYSFVLRRLPLFYTLFLIIPCLGLSFLTVLVFYLPSDEGEKLS
LSTSVLVSLTVFLLVIEEIIPSSSKVIPLIGEYLLFIMIFVTLSIIVTVFVINVHHRSSSTYHP
MAPWVKRLFLQKLPKLLCMKDHVDRYSSPEKEESQPVVKGKVLEKKKQKQLSDGEKVLVAFLEK
AADSIRYISRHVKKEHFISQVVQDWKFVAQVLDRIFLWLFLIVSVTGSVLIFTPALKMWLHSYH

hide sequence

RefSeq Acc Id:

ENSP00000433913 ⟸ ENST00000534391

RefSeq 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 Assembly	Chr	Position (strand)	Source
GRCh38	8	42,697,395 - 42,697,455	EPDNEW

Additional Information

External Database Links

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - CTD

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Imported Disease Annotations - ClinVar

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