KEGG T01001: 1141

Homo sapiens (human): 1141

Entry

1141 CDS T01001

Gene name

CHRNB2, EFNL3, nAChRB2

Definition

cholinergic receptor, nicotinic, beta 2 (neuronal)

Orthology

K04813

nicotinic acetylcholine receptor beta-2

Organism

hsa Homo sapiens (human)

Pathway

hsa04080	Neuroactive ligand-receptor interaction
hsa04725	Cholinergic synapse
hsa05033	Nicotine addiction

Disease

H00807

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)

Drug target

Mecamylamine:

D00611

Varenicline:

D06282 D08669

Acetylcholine:

D00999

Other:

D02202 D02204 D02364 D02839 D08138 D08935 D08987 D09367 D09368 D09382 D09383 D10111 D10112

Class

Environmental Information Processing; Signaling molecules and interaction; Neuroactive ligand-receptor interaction [PATH:hsa04080]
Organismal Systems; Nervous system; Cholinergic synapse [PATH:hsa04725]
Human Diseases; Substance dependence; Nicotine addiction [PATH:hsa05033]

SSDB

Motif

Pfam:

Neur_chan_memb Neur_chan_LBD DUF2417

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Structure

PDB:

2LM2 2KSR

Position

1q21.3

AA seq 502 aa
MARRCGPVALLLGFGLLRLCSGVWGTDTEERLVEHLLDPSRYNKLIRPATNGSELVTVQL
MVSLAQLISVHEREQIMTTNVWLTQEWEDYRLTWKPEEFDNMKKVRLPSKHIWLPDVVLY
NNADGMYEVSFYSNAVVSYDGSIFWLPPAIYKSACKIEVKHFPFDQQNCTMKFRSWTYDR
TEIDLVLKSEVASLDDFTPSGEWDIVALPGRRNENPDDSTYVDITYDFIIRRKPLFYTIN
LIIPCVLITSLAILVFYLPSDCGEKMTLCISVLLALTVFLLLISKIVPPTSLDVPLVGKY
LMFTMVLVTFSIVTSVCVLNVHHRSPTTHTMAPWVKVVFLEKLPALLFMQQPRHHCARQR
LRLRRRQREREGAGALFFREAPGADSCTCFVNRASVQGLAGAFGAEPAPVAGPGRSGEPC
GCGLREAVDGVRFIADHMRSEDDDQSVSEDWKYVAMVIDRLFLWIFVFVCVFGTIGMFLQ
PLFQNYTTTTFLHSDHSAPSSK

NT seq 1509 nt +upstreamnt +downstreamnt
atggcccggcgctgcggccccgtggcgctgctccttggcttcggcctcctccggctgtgc
tcaggggtgtggggtacggatacagaggagcggctggtggagcatctcctggatccttcc
cgctacaacaagcttatccgcccagccaccaatggctctgagctggtgacagtacagctt
atggtgtcactggcccagctcatcagtgtgcatgagcgggagcagatcatgaccaccaat
gtctggctgacccaggagtgggaagattatcgcctcacctggaagcctgaagagtttgac
aacatgaagaaagttcggctcccttccaaacacatctggctcccagatgtggtcctgtac
aacaatgctgacggcatgtacgaggtgtccttctattccaatgccgtggtctcctatgat
ggcagcatcttctggctgccgcctgccatctacaagagcgcatgcaagattgaagtaaag
cacttcccatttgaccagcagaactgcaccatgaagttccgttcgtggacctacgaccgc
acagagatcgacttggtgctgaagagtgaggtggccagcctggacgacttcacacctagt
ggtgagtgggacatcgtggcgctgccgggccggcgcaacgagaaccccgacgactctacg
tacgtggacatcacgtatgacttcatcattcgccgcaagccgctcttctacaccatcaac
ctcatcatcccctgtgtgctcatcacctcgctagccatccttgtcttctacctgccatcc
gactgtggcgagaagatgacgttgtgcatctcagtgctgctggcgctcacggtcttcctg
ctgctcatctccaagatcgtgcctcccacctccctcgacgtgccgctcgtcggcaagtac
ctcatgttcaccatggtgcttgtcaccttctccatcgtcaccagcgtgtgcgtgctcaac
gtgcaccaccgctcgcccaccacgcacaccatggcgccctgggtgaaggtcgtcttcctg
gagaagctgcccgcgctgctcttcatgcagcagccacgccatcattgcgcccgtcagcgc
ctgcgcctgcggcgacgccagcgtgagcgcgagggcgctggagccctcttcttccgcgaa
gccccaggggccgactcctgcacgtgcttcgtcaaccgcgcgtcggtgcaggggttggcc
ggggccttcggggctgagcctgcaccagtggcgggccccgggcgctcaggggagccgtgt
ggctgtggcctccgggaggcggtggacggcgtgcgcttcatcgcagaccacatgcggagc
gaggacgatgaccagagcgtgagtgaggactggaagtacgtcgccatggtgatcgaccgc
ctcttcctctggatctttgtctttgtctgtgtctttggcaccatcggcatgttcctgcag
cctctcttccagaactacaccaccaccaccttcctccactcagaccactcagcccccagc
tccaagtga

All links

Ontology (5)   
   KEGG BRITE (5)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Drug (17)   
   KEGG DRUG (17)   
Genome (1)   
   KEGG GENOME (1)   
Gene (15)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (7)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (3)   
   UniProt (2)   
   RefSeq(pep) (1)   
DNA sequence (15)   
   RefSeq(nuc) (1)   
   GenBank (7)   
   EMBL (7)   
3D Structure (2)   
   PDB (2)   
Protein domain (3)   
   Pfam (3)   
All databases (67)   

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