CHRM5 (cholinergic receptor muscarinic 5) - Rat Genome Database

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Gene: CHRM5 (cholinergic receptor muscarinic 5) Homo sapiens
Analyze
Symbol: CHRM5
Name: cholinergic receptor muscarinic 5
RGD ID: 1350007
HGNC Page HGNC:1954
Description: Predicted to enable G protein-coupled acetylcholine receptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger; adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway; and chemical synaptic transmission. Predicted to act upstream of or within dopamine transport and transmission of nerve impulse. Predicted to be located in postsynaptic membrane. Predicted to be active in dendrite; plasma membrane; and synapse.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: acetylcholine receptor, muscarinic 5; cholinergic receptor, muscarinic 5; HM5; MGC41838; muscarinic acetylcholine receptor M5
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
GRCh381533,968,497 - 34,067,458 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1533,968,497 - 34,067,458 (+)EnsemblGRCh38hg38GRCh38
GRCh371534,260,698 - 34,359,659 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361532,097,720 - 32,144,579 (+)NCBINCBI36Build 36hg18NCBI36
Build 341532,097,719 - 32,144,579NCBI
Celera1511,064,121 - 11,160,334 (+)NCBICelera
Cytogenetic Map15q14NCBI
HuRef1511,124,408 - 11,221,244 (+)NCBIHuRef
CHM1_11534,379,045 - 34,475,247 (+)NCBICHM1_1
T2T-CHM13v2.01531,766,653 - 31,865,649 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cell junction  (IEA)
dendrite  (IBA)
membrane  (IEA)
plasma membrane  (IBA,IEA,TAS)
postsynaptic membrane  (IEA)
synapse  (IBA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Variation in the gene coding for the M5 muscarinic receptor (CHRM5) influences cigarette dose but is not associated with dependence to drugs of addiction: evidence from a prospective population based cohort study of young adults. Anney RJ, etal., BMC Genet. 2007 Jul 3;8:46. doi: 10.1186/1471-2156-8-46.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Muscarinic signaling in the brain. Thiele A Annu Rev Neurosci. 2013 Jul 8;36:271-94. doi: 10.1146/annurev-neuro-062012-170433.
Additional References at PubMed
PMID:1905013   PMID:2540186   PMID:3272174   PMID:8063729   PMID:8248499   PMID:8576254   PMID:8663391   PMID:9733718   PMID:10336173   PMID:11306684   PMID:11855742   PMID:12477932  
PMID:12675126   PMID:14702039   PMID:15292665   PMID:15452121   PMID:16754659   PMID:16877267   PMID:17373692   PMID:17951979   PMID:18240029   PMID:19058789   PMID:19086053   PMID:19156168  
PMID:19182865   PMID:19874574   PMID:19913121   PMID:19944766   PMID:20379614   PMID:20398705   PMID:20628086   PMID:21873635   PMID:25375131   PMID:28298427   PMID:33961781   PMID:35271311  


Genomics

Comparative Map Data
CHRM5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381533,968,497 - 34,067,458 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1533,968,497 - 34,067,458 (+)EnsemblGRCh38hg38GRCh38
GRCh371534,260,698 - 34,359,659 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361532,097,720 - 32,144,579 (+)NCBINCBI36Build 36hg18NCBI36
Build 341532,097,719 - 32,144,579NCBI
Celera1511,064,121 - 11,160,334 (+)NCBICelera
Cytogenetic Map15q14NCBI
HuRef1511,124,408 - 11,221,244 (+)NCBIHuRef
CHM1_11534,379,045 - 34,475,247 (+)NCBICHM1_1
T2T-CHM13v2.01531,766,653 - 31,865,649 (+)NCBIT2T-CHM13v2.0
Chrm5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392112,306,055 - 112,365,487 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2112,309,516 - 112,311,114 (-)EnsemblGRCm39 Ensembl
GRCm382112,478,733 - 112,536,361 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2112,479,171 - 112,480,769 (-)EnsemblGRCm38mm10GRCm38
MGSCv372112,319,229 - 112,320,974 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362112,280,010 - 112,281,608 (-)NCBIMGSCv36mm8
Celera2113,630,348 - 113,632,093 (-)NCBICelera
Cytogenetic Map2E3NCBI
cM Map257.02NCBI
Chrm5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83119,739,229 - 119,791,630 (-)NCBIGRCr8
mRatBN7.2399,284,846 - 99,337,252 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl399,284,846 - 99,337,252 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3102,911,743 - 102,964,081 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03111,510,739 - 111,563,079 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03109,207,281 - 109,259,678 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03103,966,451 - 104,018,815 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3103,966,451 - 104,018,861 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03110,560,292 - 110,632,938 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4398,326,809 - 98,378,531 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1398,223,400 - 98,274,959 (-)NCBI
Celera398,270,221 - 98,321,572 (-)NCBICelera
Cytogenetic Map3q35NCBI
Chrm5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955416526,755 - 528,353 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955416526,718 - 528,353 (-)NCBIChiLan1.0ChiLan1.0
CHRM5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21622,744,555 - 22,849,360 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11527,473,497 - 27,568,780 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01512,478,656 - 12,575,512 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11531,315,839 - 31,408,563 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1531,406,198 - 31,407,796 (+)Ensemblpanpan1.1panPan2
CHRM5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.130988,764 - 1,074,599 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl30990,208 - 991,806 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha301,033,732 - 1,118,973 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0301,086,979 - 1,172,509 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl301,088,172 - 1,089,832 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1301,033,678 - 1,119,068 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0301,132,741 - 1,218,246 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0301,260,343 - 1,345,796 (-)NCBIUU_Cfam_GSD_1.0
Chrm5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864079,539,375 - 79,618,606 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366732,608,003 - 2,609,624 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366732,607,906 - 2,610,885 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHRM5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl780,427,360 - 80,428,963 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1780,423,768 - 80,429,187 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2786,417,799 - 86,503,220 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CHRM5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12648,842,021 - 48,940,962 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2648,842,779 - 48,844,377 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604892,061,214 - 92,063,631 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Chrm5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624804255,505 - 257,103 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624804252,437 - 334,457 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CHRM5
55 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1 copy number loss See cases [RCV000051616] Chr15:32326136..39394068 [GRCh38]
Chr15:32618337..39686269 [GRCh37]
Chr15:30405629..37473561 [NCBI36]
Chr15:15q13.3-14		 pathogenic
GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1 copy number loss See cases [RCV000051617] Chr15:32635803..40233825 [GRCh38]
Chr15:32928004..40526026 [GRCh37]
Chr15:30715296..38313318 [NCBI36]
Chr15:15q13.3-15.1		 pathogenic
GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3 copy number gain See cases [RCV000051157] Chr15:32607298..35200429 [GRCh38]
Chr15:32899499..35492630 [GRCh37]
Chr15:30686791..33279922 [NCBI36]
Chr15:15q13.3-14		 pathogenic
GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1 copy number loss See cases [RCV000135953] Chr15:23319714..38089582 [GRCh38]
Chr15:22698522..38381783 [GRCh37]
Chr15:20249886..36169075 [NCBI36]
Chr15:15q11.2-14		 pathogenic
GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3 copy number gain See cases [RCV000138530] Chr15:23319714..38545325 [GRCh38]
Chr15:22765628..38837526 [GRCh37]
Chr15:20316992..36624818 [NCBI36]
Chr15:15q11.2-14		 pathogenic
GRCh38/hg38 15q14(chr15:33813732-34135651)x3 copy number gain See cases [RCV000141146] Chr15:33813732..34135651 [GRCh38]
Chr15:34105933..34427852 [GRCh37]
Chr15:31893225..32215144 [NCBI36]
Chr15:15q14		 uncertain significance
GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1 copy number loss See cases [RCV000143205] Chr15:25033869..37204304 [GRCh38]
Chr15:25279016..37496505 [GRCh37]
Chr15:22830109..35283797 [NCBI36]
Chr15:15q11.2-14		 pathogenic
GRCh37/hg19 15q11.2-14(chr15:24179003-37238599)x1 copy number loss See cases [RCV000449139] Chr15:24179003..37238599 [GRCh37]
Chr15:15q11.2-14		 pathogenic
GRCh37/hg19 15q13.3-14(chr15:32908373-34659183)x3 copy number gain See cases [RCV000446812] Chr15:32908373..34659183 [GRCh37]
Chr15:15q13.3-14		 uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q14(chr15:33809650-34455671)x3 copy number gain See cases [RCV000448525] Chr15:33809650..34455671 [GRCh37]
Chr15:15q14		 uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_020371.3(AVEN):c.143G>A (p.Gly48Asp) single nucleotide variant not specified [RCV004313457] Chr15:34038904 [GRCh38]
Chr15:34331105 [GRCh37]
Chr15:15q14		 uncertain significance
GRCh37/hg19 15q13.1-14(chr15:28828167-34509383)x3 copy number gain See cases [RCV000512516] Chr15:28828167..34509383 [GRCh37]
Chr15:15q13.1-14		 uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
GRCh37/hg19 15q13.3-14(chr15:32920693-34868996)x3 copy number gain not provided [RCV000683681] Chr15:32920693..34868996 [GRCh37]
Chr15:15q13.3-14		 likely pathogenic|uncertain significance
GRCh37/hg19 15q13.3-14(chr15:32446829-34868996)x1 copy number loss not provided [RCV000683680] Chr15:32446829..34868996 [GRCh37]
Chr15:15q13.3-14		 likely pathogenic
GRCh37/hg19 15q13.3-14(chr15:32889448-34666060)x1 copy number loss not provided [RCV000751257] Chr15:32889448..34666060 [GRCh37]
Chr15:15q13.3-14		 uncertain significance
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_012125.4(CHRM5):c.1234G>A (p.Glu412Lys) single nucleotide variant not provided [RCV000947608] Chr15:34063951 [GRCh38]
Chr15:34356152 [GRCh37]
Chr15:15q14		 benign
NM_012125.4(CHRM5):c.573C>T (p.Pro191=) single nucleotide variant not provided [RCV000881839] Chr15:34063290 [GRCh38]
Chr15:34355491 [GRCh37]
Chr15:15q14		 benign
GRCh37/hg19 15q13.3-14(chr15:32915592-34671601)x3 copy number gain not provided [RCV000846838] Chr15:32915592..34671601 [GRCh37]
Chr15:15q13.3-14		 uncertain significance
GRCh37/hg19 15q14(chr15:34348337-34404263)x1 copy number loss not provided [RCV001006678] Chr15:34348337..34404263 [GRCh37]
Chr15:15q14		 uncertain significance
GRCh37/hg19 15q13.3-14(chr15:31675452-35689958)x1 copy number loss not provided [RCV001006673] Chr15:31675452..35689958 [GRCh37]
Chr15:15q13.3-14		 pathogenic
GRCh37/hg19 15q14(chr15:34197488-38656254)x1 copy number loss not provided [RCV001006677] Chr15:34197488..38656254 [GRCh37]
Chr15:15q14		 pathogenic
GRCh37/hg19 15q14(chr15:33785125-34488132)x3 copy number gain not provided [RCV002472823] Chr15:33785125..34488132 [GRCh37]
Chr15:15q14		 uncertain significance
GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1 copy number loss not provided [RCV001006664] Chr15:22770421..36861479 [GRCh37]
Chr15:15q11.2-14		 pathogenic
GRCh37/hg19 15q14(chr15:33780535-34469123)x3 copy number gain not provided [RCV001259206] Chr15:33780535..34469123 [GRCh37]
Chr15:15q14		 uncertain significance
GRCh37/hg19 15q13.3-14(chr15:32914238-34879217)x1 copy number loss not provided [RCV001259203] Chr15:32914238..34879217 [GRCh37]
Chr15:15q13.3-14		 uncertain significance
GRCh37/hg19 15q13.1-14(chr15:28709714-34506805)x3 copy number gain not provided [RCV001258590] Chr15:28709714..34506805 [GRCh37]
Chr15:15q13.1-14		 likely pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
GRCh37/hg19 15q14(chr15:33809650-40027263)x1 copy number loss 15q14 microdeletion syndrome [RCV002279741] Chr15:33809650..40027263 [GRCh37]
Chr15:15q14		 pathogenic
GRCh37/hg19 15q13.3-14(chr15:32915722-34671601)x3 copy number gain See cases [RCV002293966] Chr15:32915722..34671601 [GRCh37]
Chr15:15q13.3-14		 pathogenic
NM_020371.3(AVEN):c.361T>C (p.Tyr121His) single nucleotide variant not specified [RCV004111691] Chr15:34003116 [GRCh38]
Chr15:34295317 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.28A>G (p.Thr10Ala) single nucleotide variant not specified [RCV004130845] Chr15:34062745 [GRCh38]
Chr15:34354946 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.878A>G (p.Asn293Ser) single nucleotide variant not specified [RCV004197074] Chr15:34063595 [GRCh38]
Chr15:34355796 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.1153G>A (p.Val385Ile) single nucleotide variant not specified [RCV004222151] Chr15:34063870 [GRCh38]
Chr15:34356071 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.26G>A (p.Gly9Glu) single nucleotide variant not specified [RCV004113788] Chr15:34039021 [GRCh38]
Chr15:34331222 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.1528C>T (p.Leu510Phe) single nucleotide variant not specified [RCV004189976] Chr15:34064245 [GRCh38]
Chr15:34356446 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.354G>T (p.Trp118Cys) single nucleotide variant not specified [RCV004203360] Chr15:34003123 [GRCh38]
Chr15:34295324 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.1370C>T (p.Pro457Leu) single nucleotide variant not specified [RCV004140815] Chr15:34064087 [GRCh38]
Chr15:34356288 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.1028A>T (p.Glu343Val) single nucleotide variant not specified [RCV004242086] Chr15:34063745 [GRCh38]
Chr15:34355946 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.1096G>A (p.Ala366Thr) single nucleotide variant not specified [RCV004207890] Chr15:34063813 [GRCh38]
Chr15:34356014 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.136G>T (p.Asp46Tyr) single nucleotide variant not specified [RCV004126130] Chr15:34038911 [GRCh38]
Chr15:34331112 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.347C>G (p.Ser116Cys) single nucleotide variant not specified [RCV004169228] Chr15:34003130 [GRCh38]
Chr15:34295331 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.23G>C (p.Arg8Pro) single nucleotide variant not specified [RCV004151325] Chr15:34039024 [GRCh38]
Chr15:34331225 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.874G>A (p.Ala292Thr) single nucleotide variant not specified [RCV004229707] Chr15:34063591 [GRCh38]
Chr15:34355792 [GRCh37]
Chr15:15q14		 likely benign
NM_012125.4(CHRM5):c.493G>A (p.Ala165Thr) single nucleotide variant not specified [RCV004158545] Chr15:34063210 [GRCh38]
Chr15:34355411 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.26C>G (p.Ala9Gly) single nucleotide variant not specified [RCV004246978] Chr15:34062743 [GRCh38]
Chr15:34354944 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.14G>T (p.Arg5Leu) single nucleotide variant not specified [RCV004231999] Chr15:34039033 [GRCh38]
Chr15:34331234 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.166G>A (p.Gly56Ser) single nucleotide variant not specified [RCV004096044] Chr15:34038881 [GRCh38]
Chr15:34331082 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.1565A>G (p.Lys522Arg) single nucleotide variant not specified [RCV004162812] Chr15:34064282 [GRCh38]
Chr15:34356483 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.1058A>G (p.Lys353Arg) single nucleotide variant not specified [RCV004196459] Chr15:34063775 [GRCh38]
Chr15:34355976 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.653G>A (p.Arg218Gln) single nucleotide variant not specified [RCV004091440] Chr15:34063370 [GRCh38]
Chr15:34355571 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.191G>A (p.Gly64Glu) single nucleotide variant not specified [RCV004311333] Chr15:34038856 [GRCh38]
Chr15:34331057 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.196C>G (p.Arg66Gly) single nucleotide variant not specified [RCV004281168] Chr15:34038851 [GRCh38]
Chr15:34331052 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.823C>T (p.Arg275Cys) single nucleotide variant not specified [RCV004610465] Chr15:34063540 [GRCh38]
Chr15:34355741 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.1016C>T (p.Ala339Val) single nucleotide variant not specified [RCV004610466] Chr15:34063733 [GRCh38]
Chr15:34355934 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.220G>A (p.Gly74Ser) single nucleotide variant not specified [RCV004358504] Chr15:34038827 [GRCh38]
Chr15:34331028 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.277A>G (p.Met93Val) single nucleotide variant not specified [RCV004361819] Chr15:34062994 [GRCh38]
Chr15:34355195 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.425G>A (p.Arg142His) single nucleotide variant not specified [RCV004343212] Chr15:34063142 [GRCh38]
Chr15:34355343 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.140G>C (p.Gly47Ala) single nucleotide variant not specified [RCV004335174] Chr15:34038907 [GRCh38]
Chr15:34331108 [GRCh37]
Chr15:15q14		 uncertain significance
GRCh37/hg19 15q13.3-14(chr15:32914240-34671790)x1 copy number loss not provided [RCV003483225] Chr15:32914240..34671790 [GRCh37]
Chr15:15q13.3-14		 uncertain significance
GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3 copy number gain not provided [RCV003485056] Chr15:22770422..36556562 [GRCh37]
Chr15:15q11.2-14		 pathogenic
GRCh37/hg19 15q13.3-14(chr15:32914239-34780626)x1 copy number loss not provided [RCV003483224] Chr15:32914239..34780626 [GRCh37]
Chr15:15q13.3-14		 uncertain significance
GRCh38/hg38 15q13.3-14(chr15:32640661-34525062) copy number gain Autism spectrum disorder [RCV003883410] Chr15:32640661..34525062 [GRCh38]
Chr15:15q13.3-14		 uncertain significance
GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1 copy number loss not specified [RCV003987110] Chr15:22836883..39108014 [GRCh37]
Chr15:15q11.2-14		 pathogenic
GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3 copy number gain not specified [RCV003987108] Chr15:22770421..50347130 [GRCh37]
Chr15:15q11.2-21.2		 pathogenic
NM_012125.4(CHRM5):c.424C>T (p.Arg142Cys) single nucleotide variant not specified [RCV004441451] Chr15:34063141 [GRCh38]
Chr15:34355342 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.1538G>A (p.Arg513Gln) single nucleotide variant not specified [RCV004441450] Chr15:34064255 [GRCh38]
Chr15:34356456 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.70C>T (p.Arg24Cys) single nucleotide variant not specified [RCV004441453] Chr15:34062787 [GRCh38]
Chr15:34354988 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.163C>T (p.Arg55Cys) single nucleotide variant not specified [RCV004421304] Chr15:34038884 [GRCh38]
Chr15:34331085 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.1407C>A (p.Asp469Glu) single nucleotide variant not specified [RCV004441449] Chr15:34064124 [GRCh38]
Chr15:34356325 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.688C>T (p.Leu230Phe) single nucleotide variant not specified [RCV004441452] Chr15:34063405 [GRCh38]
Chr15:34355606 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.150G>C (p.Leu50Phe) single nucleotide variant not specified [RCV004610463] Chr15:34062867 [GRCh38]
Chr15:34355068 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.15A>C (p.Arg5=) single nucleotide variant not specified [RCV004686050] Chr15:34039032 [GRCh38]
Chr15:34331233 [GRCh37]
Chr15:15q14		 likely benign
NM_020371.3(AVEN):c.130G>C (p.Gly44Arg) single nucleotide variant not specified [RCV004686060] Chr15:34038917 [GRCh38]
Chr15:34331118 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.112G>A (p.Gly38Ser) single nucleotide variant not specified [RCV004681074] Chr15:34038935 [GRCh38]
Chr15:34331136 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.70C>T (p.Arg24Cys) single nucleotide variant not specified [RCV004686068] Chr15:34038977 [GRCh38]
Chr15:34331178 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.1010T>G (p.Phe337Cys) single nucleotide variant not specified [RCV004610464] Chr15:34063727 [GRCh38]
Chr15:34355928 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.197G>A (p.Arg66Gln) single nucleotide variant not specified [RCV004885266] Chr15:34038850 [GRCh38]
Chr15:34331051 [GRCh37]
Chr15:15q14		 uncertain significance
GRCh37/hg19 15q13.3-14(chr15:32915089-34780737)x4 copy number gain not provided [RCV004819614] Chr15:32915089..34780737 [GRCh37]
Chr15:15q13.3-14		 uncertain significance
NM_020371.3(AVEN):c.328T>G (p.Ser110Ala) single nucleotide variant not specified [RCV004881706] Chr15:34003149 [GRCh38]
Chr15:34295350 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.764G>T (p.Arg255Leu) single nucleotide variant not specified [RCV004896922] Chr15:34063481 [GRCh38]
Chr15:34355682 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.58C>G (p.Pro20Ala) single nucleotide variant not specified [RCV004881715] Chr15:34038989 [GRCh38]
Chr15:34331190 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.115G>A (p.Gly39Ser) single nucleotide variant not specified [RCV004879617] Chr15:34038932 [GRCh38]
Chr15:34331133 [GRCh37]
Chr15:15q14		 uncertain significance
NM_012125.4(CHRM5):c.176G>A (p.Ser59Asn) single nucleotide variant not specified [RCV004896923] Chr15:34062893 [GRCh38]
Chr15:34355094 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.79G>C (p.Glu27Gln) single nucleotide variant not specified [RCV004881733] Chr15:34038968 [GRCh38]
Chr15:34331169 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.98C>A (p.Ala33Glu) single nucleotide variant not specified [RCV004879624] Chr15:34038949 [GRCh38]
Chr15:34331150 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.34G>A (p.Gly12Arg) single nucleotide variant not specified [RCV004879640] Chr15:34039013 [GRCh38]
Chr15:34331214 [GRCh37]
Chr15:15q14		 uncertain significance
NM_020371.3(AVEN):c.161G>T (p.Gly54Val) single nucleotide variant not specified [RCV004879630] Chr15:34038886 [GRCh38]
Chr15:34331087 [GRCh37]
Chr15:15q14		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:674
Count of miRNA genes:335
Interacting mature miRNAs:350
Transcripts:ENST00000383263, ENST00000557872, ENST00000560035
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
2289410BW327_HBody weight QTL 327 (human)3.320.0001Body fat amount151998012945980129Human
1643273BW330_HBody Weight QTL 330 (human)1.050.014Body weightbody mass index152686671952866719Human
597422747GWAS1518821_HVertigo QTL GWAS1518821 (human)0.000003Vertigo153396851933968520Human
2289430BMD7_HBone mineral density QTL 7 (human)3.320.0001Bone mineral density151998012945980129Human
1559411SCL107_HSerum cholesterol level QTL 107 (human)3.88Lipid leveltriglyceride152654355252543552Human
1643523BW284_HBody Weight QTL 284 (human)1.950.0013Body weight152179288947792889Human
597467297GWAS1563371_Hattempted suicide QTL GWAS1563371 (human)0.000006attempted suicide153402184034021841Human
2289420BW314_HBody weight QTL 314 (human)2.720.0003Body weightlean mass151998012945980129Human
597502962GWAS1599036_Hinternet addiction disorder QTL GWAS1599036 (human)2e-08internet addiction disorder153404468134044682Human

Markers in Region
RH102644  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371534,323,861 - 34,324,006UniSTSGRCh37
Build 361532,111,153 - 32,111,298RGDNCBI36
Celera1511,126,899 - 11,127,044RGD
Cytogenetic Map15q26UniSTS
Cytogenetic Map15q13.1UniSTS
HuRef1511,187,814 - 11,187,959UniSTS
GeneMap99-GB4 RH Map1585.89UniSTS
D15S1263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371534,302,342 - 34,302,476UniSTSGRCh37
Build 361532,089,634 - 32,089,768RGDNCBI36
Celera1511,105,375 - 11,105,509RGD
Cytogenetic Map15q26UniSTS
Cytogenetic Map15q13.1UniSTS
HuRef1511,166,285 - 11,166,419UniSTS
Stanford-G3 RH Map15531.0UniSTS
NCBI RH Map1566.0UniSTS
WI-15231  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371534,281,483 - 34,281,609UniSTSGRCh37
Build 361532,068,775 - 32,068,901RGDNCBI36
Celera1511,084,524 - 11,084,650RGD
Cytogenetic Map15q26UniSTS
Cytogenetic Map15q13.1UniSTS
HuRef1511,145,439 - 11,145,565UniSTS
GeneMap99-GB4 RH Map1583.56UniSTS
Whitehead-RH Map1554.1UniSTS
NCBI RH Map1563.9UniSTS
RH69182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371534,356,508 - 34,356,746UniSTSGRCh37
Build 361532,143,800 - 32,144,038RGDNCBI36
Celera1511,159,555 - 11,159,793RGD
Cytogenetic Map15q26UniSTS
HuRef1511,220,465 - 11,220,703UniSTS
GeneMap99-GB4 RH Map1591.25UniSTS
CHRM5_s11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371534,356,351 - 34,357,170UniSTSGRCh37
Celera1511,159,398 - 11,160,217UniSTS
HuRef1511,220,308 - 11,221,127UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1202 2312 2781 2206 4718 1630 2124 4 566 1658 404 2065 6686 6104 16 3677 717 1631 1459 168

Sequence


Ensembl Acc Id: ENST00000383263   ⟹   ENSP00000372750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1533,968,497 - 34,067,458 (+)Ensembl
Ensembl Acc Id: ENST00000557872   ⟹   ENSP00000453745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1534,018,227 - 34,065,090 (+)Ensembl
Ensembl Acc Id: ENST00000560035   ⟹   ENSP00000452742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1533,968,720 - 34,062,783 (+)Ensembl
RefSeq Acc Id: NM_001320917   ⟹   NP_001307846
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381533,968,497 - 34,067,458 (+)NCBI
CHM1_11534,378,471 - 34,475,255 (+)NCBI
T2T-CHM13v2.01531,766,653 - 31,865,649 (+)NCBI
Sequence:
RefSeq Acc Id: NM_012125   ⟹   NP_036257
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381533,968,497 - 34,067,458 (+)NCBI
GRCh371534,260,446 - 34,357,295 (+)NCBI
Build 361532,097,720 - 32,144,579 (+)NCBI Archive
HuRef1511,124,408 - 11,221,244 (+)ENTREZGENE
CHM1_11534,379,045 - 34,475,247 (+)NCBI
T2T-CHM13v2.01531,766,653 - 31,865,649 (+)NCBI
Sequence:
RefSeq Acc Id: NP_036257   ⟸   NM_012125
- UniProtKB: Q96RG7 (UniProtKB/Swiss-Prot),   P08912 (UniProtKB/Swiss-Prot),   Q8IVW0 (UniProtKB/TrEMBL),   Q6NUM3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307846   ⟸   NM_001320917
- UniProtKB: Q96RG7 (UniProtKB/Swiss-Prot),   P08912 (UniProtKB/Swiss-Prot),   Q6NUM3 (UniProtKB/TrEMBL),   Q8IVW0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000453745   ⟸   ENST00000557872
Ensembl Acc Id: ENSP00000452742   ⟸   ENST00000560035
Ensembl Acc Id: ENSP00000372750   ⟸   ENST00000383263
Protein Domains
G-protein coupled receptors family 1 profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P08912-F1-model_v2 AlphaFold P08912 1-532 view protein structure

Promoters
RGD ID:6814399
Promoter ID:HG_MGC:182
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:BC068528
Position:
Human AssemblyChrPosition (strand)Source
Build 361532,126,031 - 32,126,531 (+)MPROMDB
RGD ID:6792279
Promoter ID:HG_KWN:20941
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:ENST00000327937
Position:
Human AssemblyChrPosition (strand)Source
Build 361532,141,306 - 32,141,806 (+)MPROMDB
RGD ID:7228967
Promoter ID:EPDNEW_H20229
Type:multiple initiation site
Name:CHRM5_1
Description:cholinergic receptor muscarinic 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381534,046,646 - 34,046,706EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1954 AgrOrtholog
COSMIC CHRM5 COSMIC
Ensembl Genes ENSG00000184984 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000383263 ENTREZGENE
  ENST00000383263.7 UniProtKB/Swiss-Prot
  ENST00000557872 ENTREZGENE
  ENST00000557872.1 UniProtKB/Swiss-Prot
  ENST00000560035.1 UniProtKB/TrEMBL
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000184984 GTEx
HGNC ID HGNC:1954 ENTREZGENE
Human Proteome Map CHRM5 Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Musac_Ach_M5_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Musac_Ach_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1133 UniProtKB/Swiss-Prot
NCBI Gene 1133 ENTREZGENE
OMIM 118496 OMIM
PANTHER 5-HYDROXYTRYPTAMINE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MUSCARINIC ACETYLCHOLINE RECEPTOR M5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB CHRM5 RGD, PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MUSCARINICR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MUSCRINICM5R UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ACM5_HUMAN UniProtKB/Swiss-Prot
  H0YKC0_HUMAN UniProtKB/TrEMBL
  P08912 ENTREZGENE
  Q6NUM3 ENTREZGENE, UniProtKB/TrEMBL
  Q8IVW0 ENTREZGENE, UniProtKB/TrEMBL
  Q96RG7 ENTREZGENE
UniProt Secondary Q96RG7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 CHRM5  cholinergic receptor muscarinic 5  CHRM5  cholinergic receptor, muscarinic 5  Symbol and/or name change 5135510 APPROVED