CHRM4 (cholinergic receptor muscarinic 4) - Rat Genome Database

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Gene: CHRM4 (cholinergic receptor muscarinic 4) Homo sapiens
Analyze
Symbol: CHRM4
Name: cholinergic receptor muscarinic 4
RGD ID: 68976
HGNC Page HGNC:1953
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 be located in postsynaptic membrane. Predicted to be active in dendrite; glutamatergic synapse; and synaptic membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: acetylcholine receptor, muscarinic 4; cholinergic receptor, muscarinic 4; HM4; M4R; muscarinic acetylcholine receptor M4
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
GRCh381146,383,789 - 46,391,776 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1146,383,789 - 46,391,776 (-)EnsemblGRCh38hg38GRCh38
GRCh371146,405,339 - 46,413,326 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361146,363,216 - 46,364,683 (-)NCBINCBI36Build 36hg18NCBI36
Build 341146,363,215 - 46,364,683NCBI
Celera1146,554,217 - 46,555,684 (-)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1146,113,598 - 46,115,064 (-)NCBIHuRef
CHM1_11146,405,093 - 46,406,560 (-)NCBICHM1_1
T2T-CHM13v2.01146,539,864 - 46,547,851 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (EXP,ISO)
(+)-trans-(S)-allethrin  (ISO)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
acetylcholine  (EXP)
aflatoxin B1  (EXP)
alcuronium  (EXP)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
arsenite(3-)  (ISO)
atropine  (EXP)
Azoxymethane  (ISO)
benzo[a]pyrene  (EXP)
bethanechol  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
brucine  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
carbachol  (EXP)
carmustine  (EXP)
CGP 52608  (EXP)
chlorohydrocarbon  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
cocaine  (ISO)
Cuprizon  (ISO)
DDT  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diazinon  (ISO)
dieldrin  (ISO)
Eburnamonine  (EXP)
ethanol  (ISO)
folic acid  (ISO)
furtrethonium  (EXP)
haloperidol  (ISO)
Licochalcone B  (EXP)
lipopolysaccharide  (EXP)
methoctramine tetrahydrochloride  (EXP)
methscopolamine  (EXP)
mevinphos  (ISO)
N-acetyl-L-cysteine  (ISO)
nickel atom  (EXP,ISO)
oxotremorine M  (EXP)
pancuronium  (EXP)
paracetamol  (ISO)
parathion-methyl  (ISO)
perfluorooctanoic acid  (ISO)
Pipecuronium  (EXP)
quercetin  (ISO)
resveratrol  (EXP)
risperidone  (ISO)
rocuronium  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
scopolamine  (ISO)
silicon dioxide  (ISO)
sotorasib  (EXP)
sparteine  (ISO)
strychnine  (EXP)
sunitinib  (EXP)
tetrachloromethane  (EXP,ISO)
tiotropium bromide  (EXP)
titanium dioxide  (ISO)
trametinib  (EXP)
trichlorfon  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (EXP)
Tropicamide  (EXP)
valproic acid  (EXP)
vecuronium bromide  (EXP)
wogonin  (ISO)
xanomeline  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Regulation of neuronal type genes in congestive heart failure rats. Andersson KB, etal., Acta Physiol (Oxf). 2006 Jan;186(1):17-27.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. 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:1577490   PMID:2570410   PMID:2674717   PMID:2739737   PMID:2834384   PMID:3037705   PMID:3272174   PMID:3443095   PMID:7916637   PMID:8248499   PMID:8576254   PMID:9603968  
PMID:9843378   PMID:10336173   PMID:10737800   PMID:11306684   PMID:11855742   PMID:12048193   PMID:12476323   PMID:12477932   PMID:12505680   PMID:15263021   PMID:15452121   PMID:15489334  
PMID:15518545   PMID:16352729   PMID:17373692   PMID:18240029   PMID:18282687   PMID:18337477   PMID:18577758   PMID:19156168   PMID:19874574   PMID:20406819   PMID:21295605   PMID:21873635  
PMID:23490763   PMID:24074052   PMID:24768300   PMID:24807966   PMID:26025056   PMID:26958838   PMID:27269905   PMID:28298427   PMID:28514442   PMID:31211471   PMID:32234387   PMID:33398073  
PMID:33961781   PMID:34806612   PMID:35156780   PMID:35748872   PMID:36724073  


Genomics

Comparative Map Data
CHRM4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381146,383,789 - 46,391,776 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1146,383,789 - 46,391,776 (-)EnsemblGRCh38hg38GRCh38
GRCh371146,405,339 - 46,413,326 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361146,363,216 - 46,364,683 (-)NCBINCBI36Build 36hg18NCBI36
Build 341146,363,215 - 46,364,683NCBI
Celera1146,554,217 - 46,555,684 (-)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1146,113,598 - 46,115,064 (-)NCBIHuRef
CHM1_11146,405,093 - 46,406,560 (-)NCBICHM1_1
T2T-CHM13v2.01146,539,864 - 46,547,851 (-)NCBIT2T-CHM13v2.0
Chrm4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39291,752,531 - 91,760,180 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl291,757,594 - 91,759,033 (+)EnsemblGRCm39 Ensembl
GRCm38291,922,189 - 91,929,835 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl291,927,249 - 91,928,688 (+)EnsemblGRCm38mm10GRCm38
MGSCv37291,762,346 - 91,769,986 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36291,728,088 - 91,729,527 (+)NCBIMGSCv36mm8
Celera293,312,590 - 93,320,231 (+)NCBICelera
Cytogenetic Map2E1NCBI
cM Map250.63NCBI
Chrm4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8398,349,080 - 98,356,821 (+)NCBIGRCr8
mRatBN7.2377,893,425 - 77,901,166 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl377,893,425 - 77,901,159 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx381,368,613 - 81,376,348 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0389,967,641 - 89,975,378 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0387,818,870 - 87,826,600 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0380,833,272 - 80,841,165 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl380,833,272 - 80,841,006 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0387,531,619 - 87,539,681 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4376,301,988 - 76,309,729 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1376,203,520 - 76,206,094 (+)NCBI
Celera377,096,073 - 77,103,815 (+)NCBICelera
Cytogenetic Map3q24NCBI
Chrm4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554221,647,663 - 1,655,363 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554221,647,663 - 1,655,363 (+)NCBIChiLan1.0ChiLan1.0
CHRM4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2948,596,916 - 48,606,737 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11148,603,743 - 48,611,729 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01146,342,384 - 46,350,366 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11146,893,292 - 46,901,074 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1146,894,615 - 46,896,054 (-)Ensemblpanpan1.1panPan2
CHRM4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11843,077,115 - 43,084,298 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1843,082,404 - 43,083,840 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1841,805,766 - 41,813,475 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01843,733,324 - 43,740,846 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1843,733,289 - 43,741,042 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11843,218,330 - 43,226,035 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01842,770,212 - 42,777,904 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01843,503,419 - 43,510,935 (+)NCBIUU_Cfam_GSD_1.0
Chrm4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494720,567,540 - 20,576,257 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365622,493,774 - 2,689,731 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365622,685,209 - 2,687,751 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHRM4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl216,122,704 - 16,130,810 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1216,119,794 - 16,131,080 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2217,468,644 - 17,476,868 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CHRM4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1118,937,455 - 18,945,390 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl118,942,643 - 18,944,079 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038116,222,834 - 116,230,831 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Chrm4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247672,162,712 - 2,171,012 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247672,162,719 - 2,170,921 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CHRM4
26 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1 copy number loss See cases [RCV000052679] Chr11:35663578..46959820 [GRCh38]
Chr11:35685126..46981371 [GRCh37]
Chr11:35641702..46937947 [NCBI36]
Chr11:11p13-11.2		 pathogenic
GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680] Chr11:36508280..48643003 [GRCh38]
Chr11:36529830..48664555 [GRCh37]
Chr11:36486406..48621131 [NCBI36]
Chr11:11p12-11.2		 pathogenic
NM_000741.3(CHRM4):c.319C>T (p.Leu107=) single nucleotide variant Malignant melanoma [RCV000069369] Chr11:46386239 [GRCh38]
Chr11:46407789 [GRCh37]
Chr11:46364365 [NCBI36]
Chr11:11p11.2		 not provided
NM_000741.3(CHRM4):c.318C>T (p.Asp106=) single nucleotide variant Malignant melanoma [RCV000069370] Chr11:46386240 [GRCh38]
Chr11:46407790 [GRCh37]
Chr11:46364366 [NCBI36]
Chr11:11p11.2		 not provided
GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 copy number loss See cases [RCV000135405] Chr11:41118322..48643003 [GRCh38]
Chr11:41139872..48664555 [GRCh37]
Chr11:41096448..48621131 [NCBI36]
Chr11:11p12-11.2		 pathogenic
GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 copy number loss See cases [RCV000137391] Chr11:39179252..49135735 [GRCh38]
Chr11:39200802..49157287 [GRCh37]
Chr11:39157378..49113863 [NCBI36]
Chr11:11p12-11.12		 pathogenic
GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 copy number gain See cases [RCV000139422] Chr11:42727555..49135735 [GRCh38]
Chr11:42749105..49157287 [GRCh37]
Chr11:42705681..49113863 [NCBI36]
Chr11:11p12-11.12		 likely pathogenic
GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1 copy number loss See cases [RCV000446383] Chr11:42475897..48372559 [GRCh37]
Chr11:11p12-11.2		 pathogenic
GRCh37/hg19 11p11.2(chr11:45873733-46409298)x1 copy number loss See cases [RCV000446153] Chr11:45873733..46409298 [GRCh37]
Chr11:11p11.2		 likely pathogenic
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
Single allele duplication Global developmental delay [RCV000677110] Chr11:46315434..46629277 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_000741.5(CHRM4):c.694G>A (p.Glu232Lys) single nucleotide variant not specified [RCV004284017] Chr11:46385864 [GRCh38]
Chr11:46407414 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p11.2(chr11:46302171-46783079)x3 copy number gain not provided [RCV000846414] Chr11:46302171..46783079 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.10:g.(?_46366257)_(46744577_?)dup duplication not provided [RCV001032651] Chr11:46387807..46766127 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p11.2(chr11:45995260-46536343)x1 copy number loss not provided [RCV001259091] Chr11:45995260..46536343 [GRCh37]
Chr11:11p11.2		 likely pathogenic
GRCh37/hg19 11p11.2(chr11:46123974-46442526)x3 copy number gain not provided [RCV001259093] Chr11:46123974..46442526 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.9:g.(?_45827353)_(47804770_?)dup duplication Leukocyte adhesion deficiency type II [RCV001296459] Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p11.2(chr11:46248477-46748132) copy number loss not specified [RCV002052926] Chr11:46248477..46748132 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1 copy number loss not provided [RCV001836486] Chr11:40117145..46920718 [GRCh37]
Chr11:11p12-11.2		 pathogenic
NC_000011.9:g.(?_46318032)_(46761066_?)dup duplication not provided [RCV001997118] Chr11:46318032..46761066 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.9:g.(?_45827353)_(47804770_?)del deletion Leukocyte adhesion deficiency type II [RCV003119908] Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2		 pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 copy number gain See cases [RCV002286338] Chr11:51581311..54891247 [GRCh37]
Chr11:11p11.2-q12.2		 pathogenic
NM_000741.5(CHRM4):c.1283G>A (p.Ser428Asn) single nucleotide variant not specified [RCV004160175] Chr11:46385275 [GRCh38]
Chr11:46406825 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.536C>T (p.Thr179Met) single nucleotide variant not specified [RCV004104189] Chr11:46386022 [GRCh38]
Chr11:46407572 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.722C>T (p.Thr241Met) single nucleotide variant not specified [RCV004170527] Chr11:46385836 [GRCh38]
Chr11:46407386 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.793G>A (p.Glu265Lys) single nucleotide variant not specified [RCV004207881] Chr11:46385765 [GRCh38]
Chr11:46407315 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.1088C>T (p.Thr363Met) single nucleotide variant not specified [RCV004205878] Chr11:46385470 [GRCh38]
Chr11:46407020 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.1066G>A (p.Ala356Thr) single nucleotide variant not specified [RCV004162179] Chr11:46385492 [GRCh38]
Chr11:46407042 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.1049G>A (p.Gly350Asp) single nucleotide variant not specified [RCV004187357] Chr11:46385509 [GRCh38]
Chr11:46407059 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.1091C>A (p.Pro364Gln) single nucleotide variant not specified [RCV004263963] Chr11:46385467 [GRCh38]
Chr11:46407017 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.89T>C (p.Val30Ala) single nucleotide variant not specified [RCV004610462] Chr11:46386469 [GRCh38]
Chr11:46408019 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.818A>C (p.Glu273Ala) single nucleotide variant not specified [RCV004343557] Chr11:46385740 [GRCh38]
Chr11:46407290 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.1046C>G (p.Thr349Arg) single nucleotide variant not specified [RCV004349588] Chr11:46385512 [GRCh38]
Chr11:46407062 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.524T>C (p.Val175Ala) single nucleotide variant not specified [RCV004352020] Chr11:46386034 [GRCh38]
Chr11:46407584 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.1140C>G (p.Ile380Met) single nucleotide variant not specified [RCV004441445] Chr11:46385418 [GRCh38]
Chr11:46406968 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.853C>T (p.Arg285Cys) single nucleotide variant not specified [RCV004441448] Chr11:46385705 [GRCh38]
Chr11:46407255 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.1252G>A (p.Val418Ile) single nucleotide variant not specified [RCV004441446] Chr11:46385306 [GRCh38]
Chr11:46406856 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.307G>A (p.Val103Met) single nucleotide variant not specified [RCV004441447] Chr11:46386251 [GRCh38]
Chr11:46407801 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.787G>A (p.Ala263Thr) single nucleotide variant not specified [RCV004610461] Chr11:46385771 [GRCh38]
Chr11:46407321 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.1100T>C (p.Met367Thr) single nucleotide variant not specified [RCV004610460] Chr11:46385458 [GRCh38]
Chr11:46407008 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p11.2(chr11:46240817-46743032)x3 copy number gain not provided [RCV004819569] Chr11:46240817..46743032 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.923G>A (p.Arg308His) single nucleotide variant not specified [RCV004896920] Chr11:46385635 [GRCh38]
Chr11:46407185 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.59C>T (p.Thr20Met) single nucleotide variant not specified [RCV004896917] Chr11:46386499 [GRCh38]
Chr11:46408049 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.987G>T (p.Gln329His) single nucleotide variant not specified [RCV004896918] Chr11:46385571 [GRCh38]
Chr11:46407121 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.759C>A (p.Ser253Arg) single nucleotide variant not specified [RCV004896919] Chr11:46385799 [GRCh38]
Chr11:46407349 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_000741.5(CHRM4):c.602T>A (p.Ile201Asn) single nucleotide variant not specified [RCV004896921] Chr11:46385956 [GRCh38]
Chr11:46407506 [GRCh37]
Chr11:11p11.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:239
Count of miRNA genes:223
Interacting mature miRNAs:235
Transcripts:ENST00000433765
Prediction methods:Miranda, Rnahybrid, Targetscan
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
597184205GWAS1280279_Hmigraine disorder, Headache QTL GWAS1280279 (human)5e-09migraine disorder, Headache114638521746385218Human

Markers in Region
RH27302  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,406,364 - 46,406,616UniSTSGRCh37
Build 361146,362,940 - 46,363,192RGDNCBI36
Celera1146,553,941 - 46,554,193RGD
Cytogenetic Map11p12-p11.2UniSTS
HuRef1146,113,322 - 46,113,574UniSTS
GDB:197831  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,408,028 - 46,408,443UniSTSGRCh37
Build 361146,364,604 - 46,365,019RGDNCBI36
Celera1146,555,605 - 46,556,020RGD
Cytogenetic Map11p12-p11.2UniSTS
HuRef1146,114,985 - 46,115,400UniSTS
STS-M16405  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,406,457 - 46,406,615UniSTSGRCh37
Build 361146,363,033 - 46,363,191RGDNCBI36
Celera1146,554,034 - 46,554,192RGD
Cytogenetic Map11p12-p11.2UniSTS
HuRef1146,113,415 - 46,113,573UniSTS
GeneMap99-GB4 RH Map11162.87UniSTS
RH78928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,406,371 - 46,406,555UniSTSGRCh37
Build 361146,362,947 - 46,363,131RGDNCBI36
Celera1146,553,948 - 46,554,132RGD
Cytogenetic Map11p12-p11.2UniSTS
HuRef1146,113,329 - 46,113,513UniSTS
GeneMap99-GB4 RH Map11163.76UniSTS
CHRM4__4571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,406,528 - 46,407,405UniSTSGRCh37
Build 361146,363,104 - 46,363,981RGDNCBI36
Celera1146,554,105 - 46,554,982RGD
HuRef1146,113,486 - 46,114,363UniSTS
UniSTS:481077  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,406,668 - 46,408,107UniSTSGRCh37
Celera1146,554,245 - 46,555,684UniSTS
HuRef1146,113,626 - 46,115,064UniSTS


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
1109 2373 2484 2028 4863 1410 1971 4 388 1761 237 2230 6236 5879 51 3629 709 1636 1491 164

Sequence


Ensembl Acc Id: ENST00000433765   ⟹   ENSP00000409378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,385,098 - 46,386,608 (-)Ensembl
Ensembl Acc Id: ENST00000682254   ⟹   ENSP00000507561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1146,383,789 - 46,391,776 (-)Ensembl
RefSeq Acc Id: NM_000741   ⟹   NP_000732
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,383,789 - 46,391,776 (-)NCBI
GRCh371146,405,335 - 46,413,122 (-)NCBI
Build 361146,363,216 - 46,364,683 (-)NCBI Archive
HuRef1146,113,598 - 46,115,064 (-)ENTREZGENE
CHM1_11146,404,795 - 46,406,611 (-)NCBI
T2T-CHM13v2.01146,539,864 - 46,547,851 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366692   ⟹   NP_001353621
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381146,383,789 - 46,391,776 (-)NCBI
T2T-CHM13v2.01146,539,864 - 46,547,851 (-)NCBI
Sequence:
RefSeq Acc Id: NP_000732   ⟸   NM_000741
- UniProtKB: Q0VD60 (UniProtKB/Swiss-Prot),   B2RPP4 (UniProtKB/Swiss-Prot),   Q4VBK7 (UniProtKB/Swiss-Prot),   P08173 (UniProtKB/Swiss-Prot),   Q96RG8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001353621   ⟸   NM_001366692
- UniProtKB: Q0VD60 (UniProtKB/Swiss-Prot),   P08173 (UniProtKB/Swiss-Prot),   B2RPP4 (UniProtKB/Swiss-Prot),   Q4VBK7 (UniProtKB/Swiss-Prot),   Q96RG8 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000409378   ⟸   ENST00000433765
Ensembl Acc Id: ENSP00000507561   ⟸   ENST00000682254
Protein Domains
G-protein coupled receptors family 1 profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P08173-F1-model_v2 AlphaFold P08173 1-479 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1953 AgrOrtholog
COSMIC CHRM4 COSMIC
Ensembl Genes ENSG00000180720 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000433765 ENTREZGENE
  ENST00000433765.3 UniProtKB/Swiss-Prot
  ENST00000682254 ENTREZGENE
  ENST00000682254.1 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000180720 GTEx
HGNC ID HGNC:1953 ENTREZGENE
Human Proteome Map CHRM4 Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Musac_Ach_M4_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Musac_Ach_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1132 UniProtKB/Swiss-Prot
NCBI Gene 1132 ENTREZGENE
OMIM 118495 OMIM
PANTHER 5-HYDROXYTRYPTAMINE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MUSCARINIC ACETYLCHOLINE RECEPTOR M4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB CHRM4 RGD, PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MUSCARINICR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MUSCRINICM4R 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
SMART 7TM_GPCR_Srsx UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ACM4_HUMAN UniProtKB/Swiss-Prot
  B2RPP4 ENTREZGENE
  P08173 ENTREZGENE
  Q0VD60 ENTREZGENE
  Q4VBK7 ENTREZGENE
  Q96RG8 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2RPP4 UniProtKB/Swiss-Prot
  Q0VD60 UniProtKB/Swiss-Prot
  Q4VBK7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 CHRM4  cholinergic receptor muscarinic 4  CHRM4  cholinergic receptor, muscarinic 4  Symbol and/or name change 5135510 APPROVED