| Nomenclature | Genomic Location |
| Symbol | Chrna2 | Chromosome | 2 |
| Name | Neuronal acetylcholine receptor
subunit alpha-2 | Linkage map | unknown |
| Species | Dracomimus familiaris | Genome Coordinates | Chr2: 59 Mbp |
| Molecular Function |
|
After binding acetylcholine, the AChR responds by an extensive change in conformation that
affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
Molecular Function Terms:
molecular transducer activity
signal transducer activity
signaling receptor activity
transmembrane signaling receptor activity
receptor activity
signaling receptor activity
neurotransmitter receptor activity
transmembrane signaling receptor activity
transporter activity
substrate-specific transporter activity
substrate-specific transmembrane transporter activity
ion transmembrane transporter activity
cation transmembrane transporter activity
cation channel activity
nicotinic acetylcholine-activated cation-selective channel activity
ion channel activity
ligand-gated ion channel activity
extracellular ligand-gated ion channel activity
excitatory extracellular ligand-gated ion channel activity
nicotinic acetylcholine-activated cation-selective channel activity
|
| Human Disease Association |
|
Defects in CHRNA2 are the cause of nocturnal frontal lobe epilepsy type 4 (ENFL4) [MIM:610353].
ENFL4 is an autosomal dominant epilepsy characterized by nocturnal seizures associated with fear
sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking.
|
1 CAAAGCCGGACGCAAACCCAGGCAGAAGAGCGGTTATTCCGATACCTTTTCAACACCTAC
61 AACAAGTGGTCCAGGCCCGTCCCCAATACCTCTGACGTTGTCATCGTAAGGTTCGGGCTC
121 TCCATCGCTCAGCTGATTGATGTGGATGAGAAGAACCAAATGATGACTACAAATGTTTGG
181 CTGAAACAAGAGTGGAACGACTACAAACTGCAGTGGAACCCGCTGGATTTTGACAATGTC
241 ACGTCTATCCGGGTTCCTTCGGAGATGATCTGGATTCCAGATATTGTGCTATATAACAAT
301 GCCGACGGGGAGTTTGCCGTGACGCACATGACCAAGGCGCACCTCTTCTCCAATGGCAGC
361 ATCAAGTGGGTCCCGCCGGCCATCTACAAGAGCTCCTGCAGCATCGACGTGACCTTCTTC
421 CCCTTCGACCAGCAGAACTGCAAGATGAAGTTTGGCTCGTGGACCTATGACAAGGCCAAG
481 ATTGACCTGGAGAGCATGGAGCACCAGGTGGACCTGAAGGACTACTGGGAGAGCGGGGAG
541 TGGGCCATCATCAACGCCGTGGGCACCTACAATACCAAGAAGTACGACTGCTGCACCGAG
601 ATCTACCCAGACATCACCTACAGCTTCGTCATCCGCCGCCTGCCCTTGTTCTACACCATC
661 AACCTCATCATCCCTTGCCTCCTCATCTCCTGCCTGACCGTCCTGGTCTTCTACCTGCCC
721 TCCGACTGTGGGGAGAAGATCACCCTTTGCATCTCGGTCCTGCTGTCCCTCACCGTCTTC
781 CTCCTCCTCATCACTGAGATCATCCCGTCCACCTCCTTGGTCATCCCACTCATTGGCGAG
841 TACCTGCTCTTCACCATGATCTTCGTCACCCTCTCCATCGTTATCACCGTCTTCGTCCTC
901 AACGTCCACCACCGCTCGCCCAGCACACACAAGATGCCCCGCTGGGTCCGCAACTTCTTC
961 TTGGATTTTGTCCCTCGGTGGCTCTTCATGAGACGTCCGCCACTGGTGCCTCCAGGGCTG
1021 AAGGCGGCCGGCGAG
| Predicted Protein Product |
QSRTQTQAEERLFRYLFNTYNKWSRPVPNTSDVVIVRFGLSIAQLIDVDEKNQMMTTNVW
LKQEWNDYKLQWNPLDFDNVTSIRVPSEMIWIPDIVLYNNADGEFAVTHMTKAHLFSNGS
IKWVPPAIYKSSCSIDVTFFPFDQQNCKMKFGSWTYDKAKIDLESMEHQVDLKDYWESGE
WAIINAVGTYNTKKYDCCTEIYPDITYSFVIRRLPLFYTINLIIPCLLISCLTVLVFYLP
SDCGEKITLCISVLLSLTVFLLLITEIIPSTSLVIPLIGEYLLFTMIFVTLSIVITVFVL
NVHHRSPSTHKMPRWVRNFFLDFVPRWLFMRRPPLVPPGLKAAGE
| Protein Alignment to Mouse |
sp|Q91X60|ACHA2_MOUSE Neuronal acetylcholine receptor subunit alpha-2 OS=Mus
musculus GN=Chrna2 PE=2 SV=1
MGI:87886 Chrna2 cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal) (Chr 14)
Length = 512
Score = 1507 (535.5 bits), Expect = 3.0e-155, P = 3.0e-155
Identities = 278/338 (82%), Positives = 295/338 (87%)
Query: 1 QSRTQTQAEERLFRYLFNTYNKWSRPVPNTSDVVIVRFGLSIAQLIDVDEKNQMMTTNVW 60
Q + T AE+RLF++LF YN+W+RPVPNTSDVVIVRFGLSIAQLIDVDEKNQMMTTNVW
Sbjct: 28 QQGSHTHAEDRLFKHLFGGYNRWARPVPNTSDVVIVRFGLSIAQLIDVDEKNQMMTTNVW 87
Query: 61 LKQEWNDYKLQWNPLDFDNVTSIRVPSEMIWIPDIVLYNNADGEFAVTHMTKAHLFSNGS 120
LKQEWNDYKL+W+P +F N+TS+RVPSEMIWIPDIVLYNNADGEFAVTHMTKAHLF G+
Sbjct: 88 LKQEWNDYKLRWDPAEFGNITSLRVPSEMIWIPDIVLYNNADGEFAVTHMTKAHLFFTGT 147
Query: 121 IKWVPPAIYKSSCSIDVTFFPFDQQNCKMKFGSWTYDKAKIDLESMEHQVDLKDYWESGE 180
+ WVPPAIYKSSCSIDVTFFPFDQQNCKMKFGSWTYDKAKIDLE ME VDLKDYWESGE
Sbjct: 148 VHWVPPAIYKSSCSIDVTFFPFDQQNCKMKFGSWTYDKAKIDLEQMERTVDLKDYWESGE 207
Query: 181 WAIINAVGTYNTKKYDCCTEIYPDITYSFVIRRLPLFYTINLIIPCLLISCLTVLVFYLP 240
WAIINA GTYN+KKYDCC EIYPD+TY FVIRRLPLFYTINLIIPCLLISCLTVLVFYLP
Sbjct: 208 WAIINATGTYNSKKYDCCAEIYPDVTYYFVIRRLPLFYTINLIIPCLLISCLTVLVFYLP 267
Query: 241 SDCGEKITLCXXXXXXXXXXXXXXXEIIPSTSLVIPLIGEYLLFTMIFVTLSIVITVFVL 300
S+CGEKITLC EIIPSTSLVIPLIGEYLLFTMIFVTLSIVITVFVL
Sbjct: 268 SECGEKITLCISVLLSLTVFLLLITEIIPSTSLVIPLIGEYLLFTMIFVTLSIVITVFVL 327
Query: 301 NVHHRSPSTHKMPRWVRNFFLDFVPRWLFMRRPPLVPP 338
NVHHRSPSTH MP WVR L VPRWL M RP +PP
Sbjct: 328 NVHHRSPSTHNMPNWVRVALLGRVPRWLMMNRP--LPP 363
|
