MC4R (melanocortin 4 receptor) - Rat Genome Database
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Gene: MC4R (melanocortin 4 receptor) Homo sapiens
Analyze
Symbol: MC4R
Name: melanocortin 4 receptor
RGD ID: 733058
HGNC Page HGNC
Description: Exhibits melanocyte-stimulating hormone receptor activity; neuropeptide binding activity; and ubiquitin protein ligase binding activity. Involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway and positive regulation of bone resorption. Predicted to localize to cytoplasm and plasma membrane. Implicated in morbid obesity and obesity.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BMIQ20; MC4-R; melanocortin receptor 4; MGC126851; MGC138197
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1860,371,062 - 60,372,775 (-)EnsemblGRCh38hg38GRCh38
GRCh381860,371,062 - 60,372,775 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371858,038,564 - 58,040,001 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361856,189,544 - 56,190,981 (-)NCBINCBI36hg18NCBI36
Build 341856,189,563 - 56,190,562NCBI
Celera1854,756,638 - 54,758,075 (-)NCBI
Cytogenetic Map18q21.32NCBI
HuRef1854,747,886 - 54,749,323 (-)NCBIHuRef
CHM1_11858,034,197 - 58,035,634 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

References - curated
1. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
2. Borges BC, etal., Am J Physiol Endocrinol Metab. 2011 May;300(5):E858-69. Epub 2011 Feb 22.
3. Branson R, etal., N Engl J Med. 2003 Mar 20;348(12):1096-103.
4. Catania A, etal., ScientificWorldJournal. 2010 Sep 14;10:1840-53.
5. Chagnon YC, etal., Mol Med. 1997 Oct;3(10):663-73.
6. Chu H, etal., Int J Neurosci. 2012 Feb;122(2):74-81. Epub 2011 Nov 24.
7. Farooqi IS, etal., N Engl J Med. 2003 Mar 20;348(12):1085-95.
8. GOA_HUMAN data from the GO Consortium
9. Gutierrez-Aguilar R, etal., Obesity (Silver Spring). 2012 Feb;20(2):306-12. doi: 10.1038/oby.2011.236. Epub 2011 Jul 21.
10. Huszar D, etal., Cell. 1997 Jan 10;88(1):131-41.
11. Malik IA, etal., Histochem Cell Biol. 2012 Mar;137(3):279-91. Epub 2011 Dec 20.
12. Mergen M, etal., J Clin Endocrinol Metab. 2001 Jul;86(7):3448.
13. Mul JD, etal., Obesity (Silver Spring). 2012 Mar;20(3):612-21. doi: 10.1038/oby.2011.81. Epub 2011 Apr 28.
14. OMIM Disease Annotation Pipeline
15. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
16. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. RGD automated import pipeline for gene-chemical interactions
18. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
19. Scarlett JM, etal., J Endocrinol. 2010 Jul;206(1):121-30. Epub 2010 Apr 6.
20. Seeley RJ, etal., Annu Rev Nutr 2004;24:133-49.
21. Starowicz K, etal., Pharmacol Rep. 2009 Nov-Dec;61(6):1086-95.
22. Stepp DW, etal., Physiol Rep. 2013 Nov;1(6):e00146. doi: 10.1002/phy2.146. Epub 2013 Nov 13.
23. Yeo GS, etal., Hum Mol Genet. 2003 Mar 1;12(5):561-74.
Additional References at PubMed
PMID:7854347   PMID:7949735   PMID:8392067   PMID:8794897   PMID:9058374   PMID:9763669   PMID:9771698   PMID:9771699   PMID:10199800   PMID:10318826   PMID:10585465   PMID:11101306  
PMID:11487744   PMID:11692184   PMID:11747427   PMID:11823452   PMID:11912210   PMID:12015205   PMID:12032748   PMID:12036966   PMID:12045190   PMID:12140789   PMID:12165561   PMID:12244039  
PMID:12364415   PMID:12477932   PMID:12499395   PMID:12620396   PMID:12629567   PMID:12639913   PMID:12690102   PMID:12732337   PMID:12815165   PMID:12959994   PMID:12970296   PMID:13678297  
PMID:14504270   PMID:14523020   PMID:14531729   PMID:14633862   PMID:14671178   PMID:14764812   PMID:14764818   PMID:14973783   PMID:15037865   PMID:15126516   PMID:15215606   PMID:15292469  
PMID:15448103   PMID:15466016   PMID:15470082   PMID:15486053   PMID:15489334   PMID:15489963   PMID:15533382   PMID:15585384   PMID:15597110   PMID:15805150   PMID:15821099   PMID:15865442  
PMID:15927146   PMID:15951321   PMID:16030156   PMID:16032553   PMID:16081629   PMID:16083993   PMID:16114870   PMID:16231025   PMID:16278267   PMID:16279363   PMID:16344560   PMID:16459314  
PMID:16507637   PMID:16611215   PMID:16614075   PMID:16710097   PMID:16820227   PMID:16886960   PMID:17041250   PMID:17185898   PMID:17286227   PMID:17322114   PMID:17356525   PMID:17376547  
PMID:17418015   PMID:17445027   PMID:17482720   PMID:17492953   PMID:17517245   PMID:17519222   PMID:17545153   PMID:17579204   PMID:17587397   PMID:17590021   PMID:17668051   PMID:17713970  
PMID:17822895   PMID:17941900   PMID:17986382   PMID:18029348   PMID:18239646   PMID:18377640   PMID:18454146   PMID:18454148   PMID:18461507   PMID:18551113   PMID:18559663   PMID:18682847  
PMID:18697794   PMID:18777518   PMID:18779298   PMID:18801902   PMID:18809499   PMID:18835933   PMID:18974267   PMID:18992263   PMID:18996102   PMID:18997677   PMID:19011902   PMID:19016587  
PMID:19050674   PMID:19058789   PMID:19073769   PMID:19077438   PMID:19079260   PMID:19079261   PMID:19091795   PMID:19092146   PMID:19151714   PMID:19153581   PMID:19164386   PMID:19184404  
PMID:19207921   PMID:19214805   PMID:19244934   PMID:19255736   PMID:19265794   PMID:19283510   PMID:19284607   PMID:19298524   PMID:19301229   PMID:19303903   PMID:19329486   PMID:19367093  
PMID:19463742   PMID:19470880   PMID:19491387   PMID:19557197   PMID:19629057   PMID:19668254   PMID:19680233   PMID:19692490   PMID:19696756   PMID:19737927   PMID:19741604   PMID:19743876  
PMID:19746409   PMID:19794065   PMID:19803416   PMID:19812171   PMID:19844209   PMID:19851340   PMID:19880856   PMID:19889825   PMID:19906786   PMID:19913121   PMID:20007308   PMID:20070976  
PMID:20092643   PMID:20147580   PMID:20161779   PMID:20181787   PMID:20214954   PMID:20215397   PMID:20215774   PMID:20220015   PMID:20374728   PMID:20386550   PMID:20397748   PMID:20400458  
PMID:20406574   PMID:20421936   PMID:20468064   PMID:20520848   PMID:20530052   PMID:20538960   PMID:20571754   PMID:20580033   PMID:20600126   PMID:20616199   PMID:20628086   PMID:20631012  
PMID:20682687   PMID:20686565   PMID:20696697   PMID:20703240   PMID:20712903   PMID:20724581   PMID:20725061   PMID:20733583   PMID:20734064   PMID:20816152   PMID:20816195   PMID:20843981  
PMID:20881960   PMID:20935630   PMID:20957447   PMID:20966902   PMID:20966905   PMID:20975296   PMID:21046283   PMID:21047921   PMID:21063808   PMID:21085626   PMID:21094029   PMID:21207518  
PMID:21211532   PMID:21222259   PMID:21283731   PMID:21303735   PMID:21347432   PMID:21404042   PMID:21544599   PMID:21625854   PMID:21719532   PMID:21720444   PMID:21729752   PMID:21736789  
PMID:21738238   PMID:21750520   PMID:21818152   PMID:21822216   PMID:21873635   PMID:21921652   PMID:21935397   PMID:21976721   PMID:21988832   PMID:22013104   PMID:22020349   PMID:22106157  
PMID:22310352   PMID:22327910   PMID:22344221   PMID:22350153   PMID:22447289   PMID:22463805   PMID:22466342   PMID:22492873   PMID:22544740   PMID:22566560   PMID:22605619   PMID:22688572  
PMID:22695173   PMID:22724641   PMID:22822657   PMID:22869321   PMID:22989167   PMID:23014838   PMID:23014839   PMID:23049848   PMID:23054017   PMID:23088915   PMID:23124548   PMID:23130628  
PMID:23146882   PMID:23147118   PMID:23151679   PMID:23159449   PMID:23185251   PMID:23201545   PMID:23211571   PMID:23251400   PMID:23263486   PMID:23277235   PMID:23284998   PMID:23318717  
PMID:23447422   PMID:23460509   PMID:23493066   PMID:23505181   PMID:23512951   PMID:23563607   PMID:23563609   PMID:23669352   PMID:23727064   PMID:23740648   PMID:23762205   PMID:23849767  
PMID:23895708   PMID:23920449   PMID:24040077   PMID:24064335   PMID:24066140   PMID:24091943   PMID:24097068   PMID:24105491   PMID:24139164   PMID:24151814   PMID:24276017   PMID:24307561  
PMID:24348519   PMID:24385306   PMID:24509480   PMID:24512492   PMID:24516669   PMID:24518831   PMID:24611737   PMID:24705671   PMID:24820477   PMID:24827639   PMID:24861553   PMID:24880622  
PMID:24943127   PMID:25062455   PMID:25103139   PMID:25115458   PMID:25332687   PMID:25347793   PMID:25402378   PMID:25419636   PMID:25429064   PMID:25446108   PMID:25501231   PMID:25503666  
PMID:25637721   PMID:25753114   PMID:25769385   PMID:25871004   PMID:25919555   PMID:25929371   PMID:25948074   PMID:25966591   PMID:26032905   PMID:26047380   PMID:26226973   PMID:26238496  
PMID:26244670   PMID:26324055   PMID:26469516   PMID:26588347   PMID:26666384   PMID:26680479   PMID:26782456   PMID:26814590   PMID:26848030   PMID:26849546   PMID:26948330   PMID:26965781  
PMID:27208795   PMID:27222505   PMID:27377581   PMID:27394708   PMID:27551991   PMID:27583473   PMID:27583872   PMID:27634552   PMID:27654141   PMID:27701175   PMID:27701398   PMID:27706562  
PMID:27730429   PMID:27920511   PMID:27926527   PMID:28081251   PMID:28090739   PMID:28093215   PMID:28150230   PMID:28218067   PMID:28298427   PMID:28356726   PMID:28384342   PMID:28426141  
PMID:28520814   PMID:28537674   PMID:28552734   PMID:28579220   PMID:28852042   PMID:28975585   PMID:29058194   PMID:29311635   PMID:29466028   PMID:29568105   PMID:29598821   PMID:29679223  
PMID:29696068   PMID:29893663   PMID:29937877   PMID:29991773   PMID:30068297   PMID:30134862   PMID:30641221   PMID:30755592   PMID:30811542   PMID:30896429   PMID:30929193   PMID:30945034  
PMID:30981838   PMID:31035493   PMID:31102178   PMID:31305461   PMID:31350533   PMID:31429705   PMID:31471646   PMID:31502573   PMID:31529534   PMID:31615875   PMID:31841602   PMID:31925720  
PMID:31947684   PMID:31954858   PMID:32019489   PMID:32059383   PMID:32327598   PMID:32505845   PMID:32692746   PMID:32807123   PMID:32899047   PMID:32955223  


Genomics

Candidate Gene Status
MC4R is a candidate Gene for QTL BW246_H
MC4R is a candidate Gene for QTL ACTIV2_H
MC4R is a candidate Gene for QTL FOCO1_H
MC4R is a candidate Gene for QTL ACTIV1_H
MC4R is a candidate Gene for QTL BW510_H
Comparative Map Data
MC4R
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1860,371,062 - 60,372,775 (-)EnsemblGRCh38hg38GRCh38
GRCh381860,371,062 - 60,372,775 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371858,038,564 - 58,040,001 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361856,189,544 - 56,190,981 (-)NCBINCBI36hg18NCBI36
Build 341856,189,563 - 56,190,562NCBI
Celera1854,756,638 - 54,758,075 (-)NCBI
Cytogenetic Map18q21.32NCBI
HuRef1854,747,886 - 54,749,323 (-)NCBIHuRef
CHM1_11858,034,197 - 58,035,634 (-)NCBICHM1_1
Mc4r
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391866,990,776 - 66,993,558 (-)NCBIGRCm39mm39
GRCm381866,857,705 - 66,860,487 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1866,857,704 - 66,860,506 (-)EnsemblGRCm38mm10GRCm38
MGSCv371867,017,359 - 67,020,126 (-)NCBIGRCm37mm9NCBIm37
MGSCv361866,983,074 - 66,985,841 (-)NCBImm8
Celera1868,131,723 - 68,134,491 (-)NCBICelera
Cytogenetic Map18E1NCBI
Mc4r
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01862,612,838 - 62,614,725 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1862,612,838 - 62,614,725 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01861,799,166 - 61,801,053 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41863,390,922 - 63,392,809 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11863,464,122 - 63,465,631 (-)NCBI
Celera1858,529,070 - 58,530,957 (-)NCBICelera
Cytogenetic Map18q12.1NCBI
RH 3.4 Map18610.4RGD
Mc4r
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540244,455,294 - 44,456,292 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540244,453,973 - 44,456,689 (-)NCBIChiLan1.0ChiLan1.0
MC4R
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11857,069,089 - 57,070,670 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1857,069,259 - 57,070,257 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01853,744,172 - 53,747,282 (-)NCBIMhudiblu_PPA_v0panPan3
MC4R
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl116,131,589 - 16,133,079 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1116,131,829 - 16,132,827 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Mc4r
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364974,636,370 - 4,638,205 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MC4R
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1160,772,013 - 160,774,124 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11160,772,013 - 160,774,124 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21178,553,488 - 178,555,752 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MC4R
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11819,380,054 - 19,386,412 (+)NCBI
ChlSab1.1 Ensembl1819,380,849 - 19,381,847 (+)Ensembl
Mc4r
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247925,865,902 - 5,867,498 (-)NCBI

Position Markers
GDB:378002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,039,235 - 58,039,579UniSTSGRCh37
Build 361856,190,215 - 56,190,559RGDNCBI36
Celera1854,757,309 - 54,757,653RGD
Cytogenetic Map18q22UniSTS
HuRef1854,748,557 - 54,748,901UniSTS
MC4R  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,787 - 58,039,106UniSTSGRCh37
GRCh371858,038,732 - 58,039,209UniSTSGRCh37
Build 361856,189,767 - 56,190,086RGDNCBI36
Celera1854,756,861 - 54,757,180RGD
Celera1854,756,806 - 54,757,283UniSTS
HuRef1854,748,054 - 54,748,531UniSTS
HuRef1854,748,109 - 54,748,428UniSTS
PMC310777P6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,039,702 - 58,039,924UniSTSGRCh37
Build 361856,190,682 - 56,190,904RGDNCBI36
Celera1854,757,776 - 54,757,998RGD
Cytogenetic Map18q22UniSTS
HuRef1854,749,024 - 54,749,246UniSTS
PMC310777P7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,334 - 58,038,542UniSTSGRCh37
Build 361856,189,314 - 56,189,522RGDNCBI36
Celera1854,756,408 - 54,756,616RGD
Cytogenetic Map18q22UniSTS
HuRef1854,747,656 - 54,747,864UniSTS
PMC314306P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,039,346 - 58,039,618UniSTSGRCh37
Build 361856,190,326 - 56,190,598RGDNCBI36
Celera1854,757,420 - 54,757,692RGD
Cytogenetic Map18q22UniSTS
HuRef1854,748,668 - 54,748,940UniSTS
PMC314306P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,039,146 - 58,039,390UniSTSGRCh37
Build 361856,190,126 - 56,190,370RGDNCBI36
Celera1854,757,220 - 54,757,464RGD
Cytogenetic Map18q22UniSTS
HuRef1854,748,468 - 54,748,712UniSTS
PMC314306P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,926 - 58,039,195UniSTSGRCh37
Build 361856,189,906 - 56,190,175RGDNCBI36
Celera1854,757,000 - 54,757,269RGD
Cytogenetic Map18q22UniSTS
HuRef1854,748,248 - 54,748,517UniSTS
PMC314306P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,736 - 58,038,988UniSTSGRCh37
Build 361856,189,716 - 56,189,968RGDNCBI36
Celera1854,756,810 - 54,757,062RGD
Cytogenetic Map18q22UniSTS
HuRef1854,748,058 - 54,748,310UniSTS
PMC314306P5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,551 - 58,038,805UniSTSGRCh37
Build 361856,189,531 - 56,189,785RGDNCBI36
Celera1854,756,625 - 54,756,879RGD
Cytogenetic Map18q22UniSTS
HuRef1854,747,873 - 54,748,127UniSTS
PMC314308P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,512 - 58,038,925UniSTSGRCh37
Build 361856,189,492 - 56,189,905RGDNCBI36
Celera1854,756,586 - 54,756,999RGD
Cytogenetic Map18q22UniSTS
HuRef1854,747,834 - 54,748,247UniSTS
MC4R_4126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,525 - 58,039,276UniSTSGRCh37
Build 361856,189,505 - 56,190,256RGDNCBI36
Celera1854,756,599 - 54,757,350RGD
HuRef1854,747,847 - 54,748,598UniSTS
RH70223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,393 - 58,038,586UniSTSGRCh37
Build 361856,189,373 - 56,189,566RGDNCBI36
Celera1854,756,467 - 54,756,660RGD
Cytogenetic Map18q22UniSTS
HuRef1854,747,715 - 54,747,908UniSTS
GeneMap99-GB4 RH Map18400.52UniSTS
NCBI RH Map18753.2UniSTS
UniSTS:481806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,584 - 58,039,582UniSTSGRCh37
Celera1854,756,658 - 54,757,656UniSTS
HuRef1854,747,906 - 54,748,904UniSTS
UniSTS:483261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,564 - 58,039,642UniSTSGRCh37
Celera1854,756,638 - 54,757,716UniSTS
HuRef1854,747,886 - 54,748,964UniSTS
MC4R  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371858,038,787 - 58,039,106UniSTSGRCh37
GRCh371858,038,732 - 58,039,209UniSTSGRCh37
Build 361856,189,767 - 56,190,086RGDNCBI36
Celera1854,756,861 - 54,757,180RGD
Celera1854,756,806 - 54,757,283UniSTS
HuRef1854,748,054 - 54,748,531UniSTS
HuRef1854,748,109 - 54,748,428UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:84
Count of miRNA genes:84
Interacting mature miRNAs:84
Transcripts:ENST00000299766
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.


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 entire extraembryonic component pharyngeal arch
High
Medium 11 5 11 28 12 4
Low 298 14 47 17 114 4 24 284 1715 23 103 81 13 1 9 7 1 1
Below cutoff 1232 553 469 177 390 72 948 760 1245 115 705 427 109 188 568

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC091576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU310210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY236539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA362673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF080880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF080881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF080882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF080883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX515608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L08603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S77415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000299766   ⟹   ENSP00000299766
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1860,371,062 - 60,372,775 (-)Ensembl
RefSeq Acc Id: NM_005912   ⟹   NP_005903
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381860,371,062 - 60,372,775 (-)NCBI
GRCh371858,038,564 - 58,040,001 (-)ENTREZGENE
Build 361856,189,544 - 56,190,981 (-)NCBI Archive
HuRef1854,747,886 - 54,749,323 (-)ENTREZGENE
CHM1_11858,034,197 - 58,035,634 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005903   ⟸   NM_005912
- UniProtKB: P32245 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000299766   ⟸   ENST00000299766
Protein Domains
G_PROTEIN_RECEP_F1_2


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
MC4R, 4-BP DEL, NT631 deletion BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015392] Chr18:18q22 pathogenic
MC4R, 4-BP INS, NT732 insertion BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015393] Chr18:18q22 pathogenic
MC4R, 1-BP INS, 112A insertion BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015401] Chr18:18q22 pathogenic
MC4R, 4-BP DEL, 211CTCT deletion BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015402] Chr18:18q22 pathogenic
MC4R, 2-BP INS, 279GT insertion BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015403] Chr18:18q22 pathogenic
MC4R, ILE125LYS variation BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015404] Chr18:18q22 pathogenic
MC4R, 15-BP DEL deletion BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015411] Chr18:18q22 pathogenic
MC4R, 2-BP DEL, 750GA deletion Obesity [RCV000015413] Chr18:18q22 pathogenic
NM_005912.3(MC4R):c.690del (p.Gly231fs) deletion not provided [RCV000521516] Chr18:60371660 [GRCh38]
Chr18:58038893 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) single nucleotide variant Obesity [RCV000015394]|Schizophrenia [RCV000202583]|not provided [RCV000255005] Chr18:60372245 [GRCh38]
Chr18:58039478 [GRCh37]
Chr18:18q21.32
pathogenic|uncertain significance
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001262822]|Obesity [RCV000015395]|not specified [RCV000435394] Chr18:60372240 [GRCh38]
Chr18:58039473 [GRCh37]
Chr18:18q21.32
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_005912.3(MC4R):c.148G>A (p.Val50Met) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015396] Chr18:60372202 [GRCh38]
Chr18:58039435 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.172A>T (p.Ser58Cys) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015397] Chr18:60372178 [GRCh38]
Chr18:58039411 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.305T>G (p.Ile102Ser) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015398] Chr18:60372045 [GRCh38]
Chr18:58039278 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.508A>G (p.Ile170Val) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015399] Chr18:60371842 [GRCh38]
Chr18:58039075 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.821A>G (p.Asn274Ser) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015400]|Obesity [RCV001125885] Chr18:60371529 [GRCh38]
Chr18:58038762 [GRCh37]
Chr18:18q21.32
pathogenic|uncertain significance
NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000768578]|Obesity [RCV000015405] Chr18:60371538 [GRCh38]
Chr18:58038771 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000768579]|Obesity [RCV000015406] Chr18:60371827 [GRCh38]
Chr18:58039060 [GRCh37]
Chr18:18q21.32
pathogenic|uncertain significance
NM_005912.3(MC4R):c.947T>G (p.Ile316Ser) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015407]|Obesity [RCV000778539] Chr18:60371403 [GRCh38]
Chr18:58038636 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic
NM_005912.3(MC4R):c.861T>A (p.Tyr287Ter) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015408] Chr18:60371489 [GRCh38]
Chr18:58038722 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.289A>G (p.Asn97Asp) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015409] Chr18:60372061 [GRCh38]
Chr18:58039294 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.185A>G (p.Asn62Ser) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015410] Chr18:60372165 [GRCh38]
Chr18:58039398 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000768580]|Obesity [RCV000015412]|not provided [RCV000414065] Chr18:60371970 [GRCh38]
Chr18:58039203 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005912.3(MC4R):c.656C>T (p.Ala219Val) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015414] Chr18:60371694 [GRCh38]
Chr18:58038927 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.538T>C (p.Ser180Pro) single nucleotide variant Obesity [RCV000030155] Chr18:60371812 [GRCh38]
Chr18:58039045 [GRCh37]
Chr18:18q21.32
likely pathogenic
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) single nucleotide variant Monogenic diabetes [RCV000445401]|Obesity [RCV000030156]|not provided [RCV000889153]|not specified [RCV000610107] Chr18:60371744 [GRCh38]
Chr18:58038977 [GRCh37]
Chr18:18q21.32
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005912.3(MC4R):c.677T>C (p.Ile226Thr) single nucleotide variant Obesity [RCV000030157] Chr18:60371673 [GRCh38]
Chr18:58038906 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) single nucleotide variant Obesity [RCV000030158]|not provided [RCV000906648]|not specified [RCV000499660] Chr18:60371544 [GRCh38]
Chr18:58038777 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs) microsatellite Obesity [RCV000030159] Chr18:60371513..60371514 [GRCh38]
Chr18:58038746..58038747 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.896C>A (p.Pro299His) single nucleotide variant Obesity [RCV000030160] Chr18:60371454 [GRCh38]
Chr18:58038687 [GRCh37]
Chr18:18q21.32
pathogenic
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23
pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 copy number loss See cases [RCV000051032] Chr18:56618038..80252149 [GRCh38]
Chr18:54285269..78010032 [GRCh37]
Chr18:52436267..76111023 [NCBI36]
Chr18:18q21.31-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] Chr18:53637007..80252149 [GRCh38]
Chr18:51163377..78010032 [GRCh37]
Chr18:49417375..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 copy number loss See cases [RCV000053873] Chr18:56353040..80209986 [GRCh38]
Chr18:54020271..77967869 [GRCh37]
Chr18:52171269..76068860 [NCBI36]
Chr18:18q21.31-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] Chr18:51605752..80252149 [GRCh38]
Chr18:49132122..78010032 [GRCh37]
Chr18:47386120..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1 copy number loss See cases [RCV000053836] Chr18:52156899..65408762 [GRCh38]
Chr18:49683269..63075998 [GRCh37]
Chr18:47937267..61226978 [NCBI36]
Chr18:18q21.2-22.1
pathogenic
NM_005912.3(MC4R):c.749T>A (p.Leu250Gln) single nucleotide variant Monogenic diabetes [RCV000664153]|Obesity [RCV000709739] Chr18:60371601 [GRCh38]
Chr18:58038834 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic|uncertain significance
NC_000018.9:g.57851097T>C single nucleotide variant antipsychotics response - Toxicity/ADR [RCV000211281] Chr18:60183864 [GRCh38]
Chr18:57851097 [GRCh37]
Chr18:18q21.32
drug response
GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1 copy number loss See cases [RCV000133689] Chr18:59567681..80252149 [GRCh38]
Chr18:57234913..78010032 [GRCh37]
Chr18:55385893..76111023 [NCBI36]
Chr18:18q21.32-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 copy number loss See cases [RCV000135413] Chr18:51190429..80252149 [GRCh38]
Chr18:48716799..78010032 [GRCh37]
Chr18:46970797..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1 copy number loss See cases [RCV000136501] Chr18:54857756..60590631 [GRCh38]
Chr18:52524987..58257864 [GRCh37]
Chr18:50675985..56408844 [NCBI36]
Chr18:18q21.2-21.32
pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1
pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 copy number loss See cases [RCV000136674] Chr18:53865057..80252149 [GRCh38]
Chr18:51391427..78010032 [GRCh37]
Chr18:49645425..76111023 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 copy number loss See cases [RCV000137375] Chr18:55179364..80254946 [GRCh38]
Chr18:52846595..78012829 [GRCh37]
Chr18:50997593..76113817 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23
pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 copy number loss See cases [RCV000139134] Chr18:52421052..80254946 [GRCh38]
Chr18:49947422..78012829 [GRCh37]
Chr18:48201420..76113817 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 copy number gain See cases [RCV000139496] Chr18:53959828..80254936 [GRCh38]
Chr18:51486198..78012819 [GRCh37]
Chr18:49740196..76113807 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1 copy number loss See cases [RCV000139669] Chr18:59996934..80254946 [GRCh38]
Chr18:57664166..78012829 [GRCh37]
Chr18:55815146..76113817 [NCBI36]
Chr18:18q21.32-23
pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 copy number loss See cases [RCV000140925] Chr18:51167159..80256240 [GRCh38]
Chr18:48693529..78014123 [GRCh37]
Chr18:46947527..76115097 [NCBI36]
Chr18:18q21.2-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3
pathogenic
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) single nucleotide variant Monogenic diabetes [RCV000445524]|Obesity [RCV000202590]|not provided [RCV000419291]|not specified [RCV000501342] Chr18:60371599 [GRCh38]
Chr18:58038832 [GRCh37]
Chr18:18q21.32
benign|likely benign|conflicting interpretations of pathogenicity|protective|uncertain significance
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) single nucleotide variant MELANOCORTIN 4 RECEPTOR POLYMORPHISM [RCV000768671]|Monogenic diabetes [RCV000445452]|OBESITY, RESISTANCE TO [RCV000768672]|Obesity [RCV000202600] Chr18:60372043 [GRCh38]
Chr18:58039276 [GRCh37]
Chr18:18q21.32
benign|likely benign|conflicting interpretations of pathogenicity|protective
GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3 copy number gain See cases [RCV000143195] Chr18:59909593..72609801 [GRCh38]
Chr18:57576825..70277036 [GRCh37]
Chr18:55727805..68428016 [NCBI36]
Chr18:18q21.32-22.3
likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
NM_005912.3(MC4R):c.972C>T (p.Gly324=) single nucleotide variant Obesity [RCV001124913]|not specified [RCV000192958] Chr18:60371378 [GRCh38]
Chr18:58038611 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.206T>G (p.Ile69Arg) single nucleotide variant Obesity, autosomal dominant [RCV000194758] Chr18:60372144 [GRCh38]
Chr18:58039377 [GRCh37]
Chr18:18q21.32
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_005912.3(MC4R):c.594C>T (p.Ile198=) single nucleotide variant Obesity [RCV000385624]|not provided [RCV000712269]|not specified [RCV000241630] Chr18:60371756 [GRCh38]
Chr18:58038989 [GRCh37]
Chr18:18q21.32
benign|likely benign
GRCh37/hg19 18q21.32-22.2(chr18:58014591-68158862)x1 copy number loss See cases [RCV000240432] Chr18:58014591..68158862 [GRCh37]
Chr18:18q21.32-22.2
pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23
pathogenic
NM_005912.3(MC4R):c.-386G>A single nucleotide variant Obesity [RCV000301442] Chr18:60372735 [GRCh38]
Chr18:58039968 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.-60C>G single nucleotide variant Obesity [RCV000284094] Chr18:60372409 [GRCh38]
Chr18:58039642 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.494G>A (p.Arg165Gln) single nucleotide variant Obesity [RCV000332082] Chr18:60371856 [GRCh38]
Chr18:58039089 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic
NM_005912.3(MC4R):c.-220G>A single nucleotide variant Obesity [RCV000354941] Chr18:60372569 [GRCh38]
Chr18:58039802 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.776C>T (p.Ala259Val) single nucleotide variant Obesity [RCV000261976] Chr18:60371574 [GRCh38]
Chr18:58038807 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.-178A>C single nucleotide variant Obesity [RCV000304907] Chr18:60372527 [GRCh38]
Chr18:58039760 [GRCh37]
Chr18:18q21.32
benign|likely benign
NM_005912.3(MC4R):c.817C>T (p.Gln273Ter) single nucleotide variant not provided [RCV000519708] Chr18:60371533 [GRCh38]
Chr18:58038766 [GRCh37]
Chr18:18q21.32
likely pathogenic
NM_005912.3(MC4R):c.-18T>C single nucleotide variant Obesity [RCV000347091] Chr18:60372367 [GRCh38]
Chr18:58039600 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.890T>A (p.Ile297Asn) single nucleotide variant not specified [RCV000517999] Chr18:60371460 [GRCh38]
Chr18:58038693 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.-375G>T single nucleotide variant Obesity [RCV000408193] Chr18:60372724 [GRCh38]
Chr18:58039957 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.-161C>T single nucleotide variant Obesity [RCV000408208] Chr18:60372510 [GRCh38]
Chr18:58039743 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.201G>A (p.Val67=) single nucleotide variant Obesity [RCV000287700] Chr18:60372149 [GRCh38]
Chr18:58039382 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.-66C>T single nucleotide variant Obesity [RCV000339114] Chr18:60372415 [GRCh38]
Chr18:58039648 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001027999]|not provided [RCV000596154] Chr18:60371865 [GRCh38]
Chr18:58039098 [GRCh37]
Chr18:18q21.32
pathogenic|uncertain significance
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro) single nucleotide variant Obesity [RCV000582060] Chr18:60372189 [GRCh38]
Chr18:58039422 [GRCh37]
Chr18:18q21.32
pathogenic|conflicting interpretations of pathogenicity
NM_005912.3(MC4R):c.880A>C (p.Asn294His) single nucleotide variant not specified [RCV000516897] Chr18:60371470 [GRCh38]
Chr18:58038703 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) deletion Obesity [RCV000582390] Chr18:60372286..60372287 [GRCh38]
Chr18:58039519..58039520 [GRCh37]
Chr18:18q21.32
pathogenic|conflicting interpretations of pathogenicity
NM_005912.3(MC4R):c.757G>A (p.Val253Ile) single nucleotide variant Obesity [RCV000582762] Chr18:60371593 [GRCh38]
Chr18:58038826 [GRCh37]
Chr18:18q21.32
pathogenic|conflicting interpretations of pathogenicity
NM_005912.3(MC4R):c.838T>C (p.Phe280Leu) single nucleotide variant Obesity [RCV000582923] Chr18:60371512 [GRCh38]
Chr18:58038745 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.914G>A (p.Arg305Gln) single nucleotide variant Obesity [RCV000627689] Chr18:60371436 [GRCh38]
Chr18:58038669 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.811T>C (p.Cys271Arg) single nucleotide variant not provided [RCV000413435] Chr18:60371539 [GRCh38]
Chr18:58038772 [GRCh37]
Chr18:18q21.32
pathogenic
GRCh37/hg19 18q21.31-22.3(chr18:55793243-68705548)x1 copy number loss See cases [RCV000449209] Chr18:55793243..68705548 [GRCh37]
Chr18:18q21.31-22.3
pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)x1 copy number loss See cases [RCV000446087] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 copy number loss See cases [RCV000510720] Chr18:50224898..78014123 [GRCh37]
Chr18:18q21.2-23
likely pathogenic
NM_005912.3(MC4R):c.281G>A (p.Ser94Asn) single nucleotide variant not provided [RCV000432683] Chr18:60372069 [GRCh38]
Chr18:58039302 [GRCh37]
Chr18:18q21.32
likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 copy number loss See cases [RCV000445943] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 copy number loss See cases [RCV000448656] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23
pathogenic
NC_000018.9:g.57882787C>A single nucleotide variant amisulpride response - Toxicity/ADR [RCV000211314]|aripiprazole response - Toxicity/ADR [RCV000211401]|clozapine response - Toxicity/ADR [RCV000211221]|haloperidol response - Toxicity/ADR [RCV000211305]|olanzapine response - Toxicity/ADR [RCV000211428]|paliperidone response - Toxicity/ADR [RCV000211214]|quetiapine response - Toxicity/ADR [RCV000211337]|risperidone response - Toxicity/ADR [RCV000211159]|ziprasidone response - Toxicity/ADR [RCV000211203] Chr18:60215554 [GRCh38]
Chr18:57882787 [GRCh37]
Chr18:18q21.32
drug response
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1 copy number loss See cases [RCV000512059] Chr18:54462182..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23
pathogenic
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) single nucleotide variant Obesity [RCV000582643]|Obesity, autosomal dominant [RCV000503229] Chr18:60371901 [GRCh38]
Chr18:58039134 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys) single nucleotide variant Obesity [RCV000583759]|Obesity, autosomal dominant [RCV000501559]|not provided [RCV000518806] Chr18:60372169 [GRCh38]
Chr18:58039402 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
NM_005912.3(MC4R):c.239A>G (p.Tyr80Cys) single nucleotide variant not specified [RCV000499779] Chr18:60372111 [GRCh38]
Chr18:58039344 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.750_751del (p.Ile251fs) deletion BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV000015413]|Obesity [RCV001249014]|Obesity, autosomal dominant [RCV000500812] Chr18:60371599..60371600 [GRCh38]
Chr18:58038832..58038833 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic
NM_005912.3(MC4R):c.827A>G (p.Tyr276Cys) single nucleotide variant Obesity [RCV000764167]|not specified [RCV000503100] Chr18:60371523 [GRCh38]
Chr18:58038756 [GRCh37]
Chr18:18q21.32
uncertain significance
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1
pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
Single allele deletion Deletion of long arm of chromosome 18 [RCV000768454] Chr18:58024137..77996821 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23
pathogenic
NM_005912.3(MC4R):c.883T>C (p.Ser295Pro) single nucleotide variant Monogenic diabetes [RCV000664152] Chr18:60371467 [GRCh38]
Chr18:58038700 [GRCh37]
Chr18:18q21.32
uncertain significance
GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1 copy number loss not provided [RCV000684056] Chr18:55083032..72743857 [GRCh37]
Chr18:18q21.31-22.3
pathogenic
GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1 copy number loss not provided [RCV000684058] Chr18:56905884..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1 copy number loss not provided [RCV000684059] Chr18:55298900..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001262853]|Monogenic diabetes [RCV000754806]|Obesity [RCV000709738]|not provided [RCV000681814] Chr18:60371884 [GRCh38]
Chr18:58039117 [GRCh37]
Chr18:18q21.32
pathogenic|likely pathogenic
NM_005912.3(MC4R):c.983T>A (p.Leu328Ter) single nucleotide variant not provided [RCV000712271] Chr18:60371367 [GRCh38]
Chr18:58038600 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.495G>A (p.Arg165=) single nucleotide variant not provided [RCV000712268] Chr18:60371855 [GRCh38]
Chr18:58039088 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp) single nucleotide variant Obesity [RCV001249094]|not provided [RCV000712270] Chr18:60371437 [GRCh38]
Chr18:58038670 [GRCh37]
Chr18:18q21.32
likely pathogenic|uncertain significance
GRCh37/hg19 18q21.2-21.33(chr18:51036415-59275480)x1 copy number loss not provided [RCV000739822] Chr18:51036415..59275480 [GRCh37]
Chr18:18q21.2-21.33
pathogenic
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 copy number loss not provided [RCV000739824] Chr18:52802515..78015180 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q21.32-22.1(chr18:57244903-63722436)x1 copy number loss not provided [RCV000752355] Chr18:57244903..63722436 [GRCh37]
Chr18:18q21.32-22.1
benign
GRCh37/hg19 18q21.32-23(chr18:57244903-77325446)x1 copy number loss not provided [RCV000752356] Chr18:57244903..77325446 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.32(chr18:57629472-58135000)x3 copy number gain not provided [RCV000752358] Chr18:57629472..58135000 [GRCh37]
Chr18:18q21.32
benign
NM_005912.3(MC4R):c.335C>T (p.Thr112Met) single nucleotide variant Obesity [RCV001122229]|not provided [RCV000884259] Chr18:60372015 [GRCh38]
Chr18:58039248 [GRCh37]
Chr18:18q21.32
likely benign|uncertain significance
NM_005912.3(MC4R):c.368A>G (p.Asn123Ser) single nucleotide variant not provided [RCV000973582] Chr18:60371982 [GRCh38]
Chr18:58039215 [GRCh37]
Chr18:18q21.32
likely benign
NM_005912.3(MC4R):c.496G>A (p.Val166Ile) single nucleotide variant Obesity [RCV000755003] Chr18:60371854 [GRCh38]
Chr18:58039087 [GRCh37]
Chr18:18q21.32
pathogenic
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1 copy number loss not provided [RCV001007017] Chr18:55458425..78014123 [GRCh37]
Chr18:18q21.31-23
pathogenic
GRCh37/hg19 18q21.32(chr18:57940764-58095560)x1 copy number loss See cases [RCV000790578] Chr18:57940764..58095560 [GRCh37]
Chr18:18q21.32
pathogenic
MC4R, VAL103ILE (rs2229616) single nucleotide variant MELANOCORTIN 4 RECEPTOR POLYMORPHISM [RCV000768671]|OBESITY, RESISTANCE TO [RCV000768672] Chr18:18q21.32 benign|protective
NM_005912.3(MC4R):c.474T>C (p.His158=) single nucleotide variant not provided [RCV000920475] Chr18:60371876 [GRCh38]
Chr18:58039109 [GRCh37]
Chr18:18q21.32
likely benign
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23
pathogenic
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1 copy number loss not provided [RCV001007018] Chr18:56750525..78014123 [GRCh37]
Chr18:18q21.32-23
pathogenic
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 copy number gain not provided [RCV000847118] Chr18:45621155..61416536 [GRCh37]
Chr18:18q21.1-21.33
pathogenic
NM_005912.3(MC4R):c.-176A>G single nucleotide variant Obesity [RCV001125007] Chr18:60372525 [GRCh38]
Chr18:58039758 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.373A>G (p.Ile125Val) single nucleotide variant Obesity [RCV001127994] Chr18:60371977 [GRCh38]
Chr18:58039210 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.929G>A (p.Arg310Lys) single nucleotide variant Obesity [RCV001125883] Chr18:60371421 [GRCh38]
Chr18:58038654 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.836G>A (p.Cys279Tyr) single nucleotide variant Obesity [RCV001125884] Chr18:60371514 [GRCh38]
Chr18:58038747 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.655G>T (p.Ala219Ser) single nucleotide variant Obesity [RCV001125887] Chr18:60371695 [GRCh38]
Chr18:58038928 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.837C>T (p.Cys279=) single nucleotide variant not provided [RCV000910088] Chr18:60371513 [GRCh38]
Chr18:58038746 [GRCh37]
Chr18:18q21.32
likely benign
NM_005912.3(MC4R):c.468G>A (p.Gln156=) single nucleotide variant Obesity [RCV001127992]|not provided [RCV000926386] Chr18:60371882 [GRCh38]
Chr18:58039115 [GRCh37]
Chr18:18q21.32
benign|likely benign
NM_005912.3(MC4R):c.21T>C (p.Arg7=) single nucleotide variant Obesity [RCV001122230] Chr18:60372329 [GRCh38]
Chr18:58039562 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.534G>A (p.Thr178=) single nucleotide variant Obesity [RCV001127991] Chr18:60371816 [GRCh38]
Chr18:58039049 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.949A>T (p.Ile317Phe) single nucleotide variant Obesity [RCV001124914] Chr18:60371401 [GRCh38]
Chr18:58038634 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.31A>G (p.Thr11Ala) single nucleotide variant Monogenic diabetes [RCV001174413] Chr18:60372319 [GRCh38]
Chr18:58039552 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.915G>A (p.Arg305=) single nucleotide variant not provided [RCV000911329] Chr18:60371435 [GRCh38]
Chr18:58038668 [GRCh37]
Chr18:18q21.32
likely benign
NM_005912.3(MC4R):c.815C>G (p.Pro272Arg) single nucleotide variant Obesity [RCV001125886] Chr18:60371535 [GRCh38]
Chr18:58038768 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.719A>G (p.Asn240Ser) single nucleotide variant Monogenic diabetes [RCV001174412] Chr18:60371631 [GRCh38]
Chr18:58038864 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.14C>A (p.Thr5Asn) single nucleotide variant Monogenic diabetes [RCV001174414] Chr18:60372336 [GRCh38]
Chr18:58039569 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.645G>A (p.Met215Ile) single nucleotide variant Obesity [RCV001127990] Chr18:60371705 [GRCh38]
Chr18:58038938 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.585C>G (p.Ile195Met) single nucleotide variant not specified [RCV001195614] Chr18:60371765 [GRCh38]
Chr18:58038998 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.15C>T (p.Thr5=) single nucleotide variant Obesity [RCV001122231] Chr18:60372335 [GRCh38]
Chr18:58039568 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.-59G>A single nucleotide variant Obesity [RCV001122232] Chr18:60372408 [GRCh38]
Chr18:58039641 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.902T>C (p.Ile301Thr) single nucleotide variant not provided [RCV001215751] Chr18:60371448 [GRCh38]
Chr18:58038681 [GRCh37]
Chr18:18q21.32
likely pathogenic
NM_005912.3(MC4R):c.-121G>A single nucleotide variant Obesity [RCV001125006] Chr18:60372470 [GRCh38]
Chr18:58039703 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.-216C>T single nucleotide variant Obesity [RCV001125008] Chr18:60372565 [GRCh38]
Chr18:58039798 [GRCh37]
Chr18:18q21.32
benign
NM_005912.3(MC4R):c.-263A>G single nucleotide variant Obesity [RCV001125989] Chr18:60372612 [GRCh38]
Chr18:58039845 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.-295A>G single nucleotide variant Obesity [RCV001125990] Chr18:60372644 [GRCh38]
Chr18:58039877 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.-359C>A single nucleotide variant Obesity [RCV001125991] Chr18:60372708 [GRCh38]
Chr18:58039941 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.-360G>A single nucleotide variant Obesity [RCV001125992] Chr18:60372709 [GRCh38]
Chr18:58039942 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.405A>C (p.Ala135=) single nucleotide variant Obesity [RCV001127993] Chr18:60371945 [GRCh38]
Chr18:58039178 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.-64G>A single nucleotide variant Obesity [RCV001125005] Chr18:60372413 [GRCh38]
Chr18:58039646 [GRCh37]
Chr18:18q21.32
uncertain significance
NM_005912.3(MC4R):c.779C>A (p.Pro260Gln) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001253485] Chr18:60371571 [GRCh38]
Chr18:58038804 [GRCh37]
Chr18:18q21.32
likely pathogenic
NM_005912.3(MC4R):c.407C>T (p.Ser136Phe) single nucleotide variant Obesity [RCV001253372] Chr18:60371943 [GRCh38]
Chr18:58039176 [GRCh37]
Chr18:18q21.32
pathogenic
NM_005912.3(MC4R):c.542G>A (p.Gly181Asp) single nucleotide variant BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 [RCV001253592] Chr18:60371808 [GRCh38]
Chr18:58039041 [GRCh37]
Chr18:18q21.32
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6932 AgrOrtholog
COSMIC MC4R COSMIC
Ensembl Genes ENSG00000166603 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000299766 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000299766 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000166603 GTEx
HGNC ID HGNC:6932 ENTREZGENE
Human Proteome Map MC4R Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mcort_rcpt_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Melancort_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Melcrt_ACTH_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4160 UniProtKB/Swiss-Prot
NCBI Gene 4160 ENTREZGENE
OMIM 155541 OMIM
  618406 OMIM
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30676 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MCRFAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MELNOCORTINR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MELNOCORTN4R 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
UniGene Hs.532833 ENTREZGENE
UniProt A0N0W6_HUMAN UniProtKB/TrEMBL
  A0N0W7_HUMAN UniProtKB/TrEMBL
  A0N0W8_HUMAN UniProtKB/TrEMBL
  A0N0W9_HUMAN UniProtKB/TrEMBL
  K4MTP3_HUMAN UniProtKB/TrEMBL
  K4MUE5_HUMAN UniProtKB/TrEMBL
  K4MWA3_HUMAN UniProtKB/TrEMBL
  K4MWP7_HUMAN UniProtKB/TrEMBL
  K4N7A9_HUMAN UniProtKB/TrEMBL
  MC4R_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RAC3 UniProtKB/Swiss-Prot
  Q16317 UniProtKB/Swiss-Prot
  Q3MIJ6 UniProtKB/Swiss-Prot