MC5R (melanocortin 5 receptor) - Rat Genome Database

Name: MC5R
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: MC5R (melanocortin 5 receptor) Homo sapiens

Analyze

Symbol:

MC5R

Name:

melanocortin 5 receptor

RGD ID:

732421

HGNC Page

HGNC:6933

Description:

Predicted to enable melanocortin receptor activity. Involved in adenylate cyclase-activating G protein-coupled receptor signaling pathway. Located in plasma membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

MC2; melanocortin receptor 5; melanocortin-5 receptor

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Mc5r (melanocortin 5 receptor)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, Panther, Treefam
Rattus norvegicus (Norway rat):	Mc5r (melanocortin 5 receptor)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Mc5r (melanocortin 5 receptor)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	MC5R (melanocortin 5 receptor)	NCBI	Ortholog
Canis lupus familiaris (dog):	MC5R (melanocortin 5 receptor)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Mc5r (melanocortin 5 receptor)	NCBI	Ortholog
Sus scrofa (pig):	MC5R (melanocortin 5 receptor)	HGNC	NCBI
Chlorocebus sabaeus (green monkey):	MC5R (melanocortin 5 receptor)	NCBI	Ortholog
Other homologs ²
Canis lupus familiaris (dog):	RNMT (RNA guanine-7 methyltransferase)	HGNC	EggNOG
Rattus norvegicus (Norway rat):	Mga (MAX dimerization protein MGA)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Mc5r (melanocortin 5 receptor)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Mc5r (melanocortin 5 receptor)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	mc5ra (melanocortin 5a receptor)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	mc5rb (melanocortin 5b receptor)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Xenopus laevis (African clawed frog):	mc5r.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	mc5r	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	mc5r.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Candidate Gene For:

BW114_H GLUCO230_H

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	18	13,824,149 - 13,827,323 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	18	13,824,149 - 13,827,323 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	18	13,824,148 - 13,827,322 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	18	13,815,765 - 13,816,742 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	18	13,815,764 - 13,816,742	NCBI
Celera	18	13,706,729 - 13,708,047 (+)	NCBI		Celera
Cytogenetic Map	18	p11.21	NCBI
HuRef	18	13,778,780 - 13,780,099 (+)	NCBI		HuRef
CHM1_1	18	13,824,630 - 13,825,948 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	18	13,986,528 - 13,989,701 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Acute-Phase Reaction (ISO)

chromosome 18p deletion syndrome (IAGP)

genetic disease (IAGP)

intellectual disability (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

1H-indole (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2-palmitoylglycerol (EXP)

4-hydroxyphenyl retinamide (ISO)

aflatoxin B1 (EXP)

alpha-Zearalanol (ISO)

ammonium chloride (ISO)

benzo[a]pyrene (EXP)

bis(2-chloroethyl) sulfide (ISO)

bisphenol A (EXP,ISO)

CGP 52608 (EXP)

clofibrate (ISO)

decabromodiphenyl ether (ISO)

dexamethasone (ISO)

flavonoids (ISO)

gentamycin (ISO)

isotretinoin (EXP)

Licochalcone B (EXP)

lipopolysaccharide (ISO)

methylisothiazolinone (EXP)

naphthalene (EXP)

ozone (ISO)

perfluorooctanoic acid (ISO)

silicon dioxide (EXP,ISO)

testosterone (ISO)

trichloroethene (ISO)

triptonide (ISO)

valproic acid (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

adenylate cyclase-activating G protein-coupled receptor signaling pathway (IBA,IDA,IEA)

G protein-coupled receptor signaling pathway (IEA)

G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (TAS)

regulation of metabolic process (IBA)

Cellular Component

cytoplasm (IBA)

membrane (IEA)

plasma membrane (IBA,IDA,IEA,TAS)

Molecular Function

G protein-coupled receptor activity (IEA)

hormone binding (IEA,ISO)

melanocortin receptor activity (IBA,IEA,ISO,TAS)

protein binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

G protein mediated signaling pathway via Galphas family (TAS)

melanocortin system pathway (ISO,TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Increased adipose tissue (IAGP)

Increased body mass index (IAGP)

Intellectual disability (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Binding of alpha-melanocyte-stimulating hormone to its G-protein-coupled receptor on B-lymphocytes activates the Jak/STAT pathway.	Buggy JJ Biochem J. 1998 Apr 1;331 ( Pt 1):211-6.
2.	The melanocortin system in control of inflammation.	Catania A, etal., ScientificWorldJournal. 2010 Sep 14;10:1840-53.
3.	Linkage and association studies between the melanocortin receptors 4 and 5 genes and obesity-related phenotypes in the Quebec Family Study.	Chagnon YC, etal., Mol Med. 1997 Oct;3(10):663-73.
4.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
5.	Melanocortin receptors in rat liver cells: change of gene expression and intracellular localization during acute-phase response.	Malik IA, etal., Histochem Cell Biol. 2012 Mar;137(3):279-91. Epub 2011 Dec 20.
6.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:7739752	PMID:7956366	PMID:8396929	PMID:8932521	PMID:9058374	PMID:9240466	PMID:9892020	PMID:11286624	PMID:11606131	PMID:12036966	PMID:12477932	PMID:15470082
PMID:15489334	PMID:16314755	PMID:17482720	PMID:18551113	PMID:19329486	PMID:19428994	PMID:19502010	PMID:19913121	PMID:20468064	PMID:20628086	PMID:21602033	PMID:21873635
PMID:22871966	PMID:23414113	PMID:25860801	PMID:26223677	PMID:28396017	PMID:30739530	PMID:33765750

Genomics

Comparative Map Data

MC5R
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	18	13,824,149 - 13,827,323 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	18	13,824,149 - 13,827,323 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	18	13,824,148 - 13,827,322 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	18	13,815,765 - 13,816,742 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	18	13,815,764 - 13,816,742	NCBI
Celera	18	13,706,729 - 13,708,047 (+)	NCBI		Celera
Cytogenetic Map	18	p11.21	NCBI
HuRef	18	13,778,780 - 13,780,099 (+)	NCBI		HuRef
CHM1_1	18	13,824,630 - 13,825,948 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	18	13,986,528 - 13,989,701 (+)	NCBI		T2T-CHM13v2.0

Mc5r
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	18	68,469,811 - 68,475,517 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	18	68,470,575 - 68,475,517 (+)	Ensembl		GRCm39 Ensembl
GRCm38	18	68,336,744 - 68,342,446 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	18	68,337,596 - 68,342,446 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	18	68,497,257 - 68,499,365 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	18	68,462,972 - 68,465,092 (+)	NCBI		MGSCv36	mm8
Celera	18	69,645,563 - 69,647,671 (+)	NCBI		Celera
Cytogenetic Map	18	E2	NCBI
cM Map	18	41.46	NCBI

Mc5r
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	18	64,185,013 - 64,190,054 (+)	NCBI		GRCr8
mRatBN7.2	18	61,915,188 - 61,920,229 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	18	61,915,188 - 61,920,229 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	18	63,990,228 - 63,995,268 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	18	64,695,178 - 64,700,218 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	18	62,539,890 - 62,544,930 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	18	64,113,659 - 64,118,700 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	18	64,114,933 - 64,116,524 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	18	63,329,399 - 63,330,432 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	18	64,679,384 - 64,680,417 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	18	64,752,231 - 64,753,823 (-)	NCBI
Celera	18	60,019,520 - 60,020,553 (+)	NCBI		Celera
RH 3.4 Map	18	628.5	RGD
RH 3.4 Map	18	628.4	RGD
Cytogenetic Map	18	q12.1	NCBI

Mc5r
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955402	283,388 - 286,884 (-)	NCBI	ChiLan1.0	ChiLan1.0

MC5R
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	17	24,217,275 - 24,222,385 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	18	9,907,321 - 9,914,981 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	18	495,561 - 501,555 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	18	2,668,281 - 2,669,586 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	18	2,668,394 - 2,669,371 (-)	Ensembl	panpan1.1		panPan2

MC5R
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	24,429,331 - 24,433,212 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	25,410,285 - 25,414,162 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	24,326,030 - 24,331,495 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	24,328,811 - 24,329,788 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	24,381,249 - 24,385,125 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	24,267,632 - 24,271,507 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	24,538,879 - 24,544,347 (-)	NCBI		UU_Cfam_GSD_1.0

Mc5r
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404944	3,972,966 - 3,976,952 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936626	3,202,346 - 3,204,477 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936626	3,203,437 - 3,204,743 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MC5R
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	96,322,422 - 96,323,339 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	96,322,276 - 96,323,795 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	89,672,688 - 89,674,974 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MC5R
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	18	72,263,016 - 72,268,436 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	18	72,264,815 - 72,265,792 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666050	47,330,875 - 47,334,183 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in MC5R
16 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]\|See cases [RCV000051153]	Chr18:148963..14081888 [GRCh38] Chr18:148963..14081887 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	copy number loss	See cases [RCV000051154]	Chr18:148963..14081888 [GRCh38] Chr18:148963..14081887 [GRCh37] Chr18:138963..14071887 [NCBI36] Chr18:18p11.32-11.21	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 18p11.32-11.21(chr18:1919684-15325188)x3	copy number gain	See cases [RCV000052535]	Chr18:1919684..15325188 [GRCh38] Chr18:1919685..15325187 [GRCh37] Chr18:1909685..15315187 [NCBI36] Chr18:18p11.32-11.21	pathogenic
GRCh38/hg38 18p11.31-11.21(chr18:3389362-14082029)x3	copy number gain	See cases [RCV000052536]	Chr18:3389362..14082029 [GRCh38] Chr18:3389360..14082028 [GRCh37] Chr18:3379360..14072028 [NCBI36] Chr18:18p11.31-11.21	pathogenic
GRCh38/hg38 18p11.21(chr18:13298775-14082029)x3	copy number gain	See cases [RCV000052540]	Chr18:13298775..14082029 [GRCh38] Chr18:13298774..14082028 [GRCh37] Chr18:13288774..14072028 [NCBI36] Chr18:18p11.21	pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	copy number gain	See cases [RCV000052499]	Chr18:10001..15380684 [GRCh38] Chr18:10001..15380683 [GRCh37] Chr18:1..15370683 [NCBI36] Chr18:18p11.32-11.21	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 18p11.32-q11.1(chr18:53345-20948503)x3	copy number gain	See cases [RCV000052504]	Chr18:53345..20948503 [GRCh38] Chr18:53345..18528464 [GRCh37] Chr18:43345..16782462 [NCBI36] Chr18:18p11.32-q11.1	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 18p11.32-q11.1(chr18:148963-21040153)x3	copy number gain	See cases [RCV000052513]	Chr18:148963..21040153 [GRCh38] Chr18:148963..18620114 [GRCh37] Chr18:138963..16874112 [NCBI36] Chr18:18p11.32-q11.1	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 18p11.32-11.21(chr18:131700-14226905)x1	copy number loss	See cases [RCV000053461]	Chr18:131700..14226905 [GRCh38] Chr18:131700..14226904 [GRCh37] Chr18:121700..14216904 [NCBI36] Chr18:18p11.32-11.21	pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	copy number loss	See cases [RCV000053457]	Chr18:112259..14122522 [GRCh38] Chr18:112259..14122521 [GRCh37] Chr18:102259..14112521 [NCBI36] Chr18:18p11.32-11.21	pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	copy number loss	See cases [RCV000053458]	Chr18:131700..15121055 [GRCh38] Chr18:131700..15121054 [GRCh37] Chr18:121700..15111054 [NCBI36] Chr18:18p11.32-11.21	pathogenic
NM_005913.2(MC5R):c.600C>A (p.Leu200=)	single nucleotide variant	Malignant melanoma [RCV000071748]	Chr18:13826365 [GRCh38] Chr18:13826364 [GRCh37] Chr18:13816364 [NCBI36] Chr18:18p11.21	not provided
GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	copy number loss	Deletion of short arm of chromosome 18 [RCV003159575]	Chr18:1..15400035 [GRCh37] Chr18:18p11.32-11.1	pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3	copy number gain	See cases [RCV000051153]	Chr18:148963..14081888 [GRCh38] Chr18:148963..14081887 [GRCh37] Chr18:138963..14071887 [NCBI36] Chr18:18p11.32-11.21	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 18p11.32-11.21(chr18:148963-14081888)x4	copy number gain	See cases [RCV000135515]	Chr18:148963..14081888 [GRCh38] Chr18:148963..14081887 [GRCh37] Chr18:138963..14071887 [NCBI36] Chr18:18p11.32-11.21	pathogenic
GRCh38/hg38 18p11.22-11.21(chr18:10077657-14081888)x3	copy number gain	See cases [RCV000136610]	Chr18:10077657..14081888 [GRCh38] Chr18:10077654..14081887 [GRCh37] Chr18:10067654..14071887 [NCBI36] Chr18:18p11.22-11.21	pathogenic
GRCh38/hg38 18p11.21(chr18:13604748-14089410)x4	copy number gain	See cases [RCV000137691]	Chr18:13604748..14089410 [GRCh38] Chr18:13604747..14089409 [GRCh37] Chr18:13594747..14079409 [NCBI36] Chr18:18p11.21	uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	copy number gain	See cases [RCV000137456]	Chr18:118760..14089410 [GRCh38] Chr18:118760..14089409 [GRCh37] Chr18:108760..14079409 [NCBI36] Chr18:18p11.32-11.21	pathogenic\|conflicting data from submitters
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	copy number loss	See cases [RCV000137457]	Chr18:118760..14089410 [GRCh38] Chr18:118760..14089409 [GRCh37] Chr18:108760..14079409 [NCBI36] Chr18:18p11.32-11.21	pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	copy number loss	See cases [RCV000138101]	Chr18:133157..14089410 [GRCh38] Chr18:133157..14089409 [GRCh37] Chr18:123157..14079409 [NCBI36] Chr18:18p11.32-11.21	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 18p11.32-11.21(chr18:136226-15175006)	copy number gain	See cases [RCV000140442]	Chr18:136226..15175006 [GRCh38] Chr18:136226..15175005 [GRCh37] Chr18:126226..15165005 [NCBI36] Chr18:18p11.32-11.21	pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	copy number gain	See cases [RCV000141427]	Chr18:14316..14206225 [GRCh38] Chr18:14316..14206224 [GRCh37] Chr18:4316..14196224 [NCBI36] Chr18:18p11.32-11.21	pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	copy number loss	See cases [RCV000141086]	Chr18:118760..15024003 [GRCh38] Chr18:118760..15024002 [GRCh37] Chr18:108760..15014002 [NCBI36] Chr18:18p11.32-11.21	pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	copy number loss	See cases [RCV000141627]	Chr18:48782..14978076 [GRCh38] Chr18:48782..14978075 [GRCh37] Chr18:38782..14968075 [NCBI36] Chr18:18p11.32-11.21	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 18p11.22-q11.2(chr18:8779843-24685379)x3	copy number gain	See cases [RCV000143075]	Chr18:8779843..24685379 [GRCh38] Chr18:8779841..22265343 [GRCh37] Chr18:8769841..20519341 [NCBI36] Chr18:18p11.22-q11.2	pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	copy number gain	See cases [RCV000143434]	Chr18:136226..15198991 [GRCh38] Chr18:136226..15198990 [GRCh37] Chr18:126226..15188990 [NCBI36] Chr18:18p11.32-11.21	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
GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	copy number gain	See cases [RCV000143477]	Chr18:136226..14337134 [GRCh38] Chr18:136226..14337133 [GRCh37] Chr18:126226..14327133 [NCBI36] Chr18:18p11.32-11.21	pathogenic
GRCh38/hg38 18p11.21-q11.2(chr18:13340112-23409879)	copy number gain	See cases [RCV000143455]	Chr18:13340112..23409879 [GRCh38] Chr18:13340111..20989843 [GRCh37] Chr18:13330111..19243841 [NCBI36] Chr18:18p11.21-q11.2	pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	copy number loss	See cases [RCV000148129]	Chr18:148963..14081888 [GRCh38] Chr18:148963..14081887 [GRCh37] Chr18:138963..14071887 [NCBI36] Chr18:18p11.32-11.21	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
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4	copy number gain	See cases [RCV000449034]	Chr18:136226..15157836 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1	copy number loss	See cases [RCV000239938]	Chr18:163323..14103971 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:163323-15102598)x4	copy number gain	See cases [RCV000240029]	Chr18:163323..15102598 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:14316-15328499)x1	copy number loss	See cases [RCV000240281]	Chr18:14316..15328499 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1	copy number loss	See cases [RCV000599143]	Chr18:13034..15375878 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.21-q11.2(chr18:12254327-23262749)x3	copy number gain	See cases [RCV000447320]	Chr18:12254327..23262749 [GRCh37] Chr18:18p11.21-q11.2	pathogenic
GRCh37/hg19 18p11.31-11.21(chr18:4465872-15198990)x3	copy number gain	See cases [RCV000447359]	Chr18:4465872..15198990 [GRCh37] Chr18:18p11.31-11.21	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 18p11.32-11.21(chr18:136226-15198990)x4	copy number gain	See cases [RCV000445796]	Chr18:136226..15198990 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)x1	copy number loss	See cases [RCV000449008]	Chr18:136226..14983938 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18534784)x4	copy number gain	See cases [RCV000447836]	Chr18:136226..18534784 [GRCh37] Chr18:18p11.32-q11.1	pathogenic
GRCh37/hg19 18p11.21(chr18:13776957-15198990)x3	copy number gain	See cases [RCV000512050]	Chr18:13776957..15198990 [GRCh37] Chr18:18p11.21	uncertain significance
GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3	copy number gain	See cases [RCV000512118]	Chr18:136226..21657790 [GRCh37] Chr18:18p11.32-q11.2	pathogenic
GRCh37/hg19 18p11.22-11.21(chr18:9671667-14854484)x1	copy number loss	See cases [RCV000510514]	Chr18:9671667..14854484 [GRCh37] Chr18:18p11.22-11.21	uncertain significance
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	copy number gain	See cases [RCV000511857]	Chr18:136227..46171053 [GRCh37] Chr18:18p11.32-q21.1	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x3	copy number gain	See cases [RCV000511520]	Chr18:136226..15198990 [GRCh37] Chr18:18p11.32-11.21	pathogenic\|uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x1	copy number loss	See cases [RCV000511826]	Chr18:136226..15157836 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18521285)x4	copy number gain	See cases [RCV000511949]	Chr18:136226..18521285 [GRCh37] Chr18:18p11.32-q11.1	pathogenic
GRCh37/hg19 18p11.21(chr18:13582359-14770213)x3	copy number gain	See cases [RCV000511070]	Chr18:13582359..14770213 [GRCh37] Chr18:18p11.21	uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	copy number gain	See cases [RCV000511189]	Chr18:136227..78014123 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1	copy number loss	See cases [RCV000515578]	Chr18:13034..15026309 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1	copy number loss	See cases [RCV000512162]	Chr18:1..15157836 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x1	copy number loss	See cases [RCV000512537]	Chr18:136226..15198990 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:958974-15181666)x3	copy number gain	not provided [RCV000684051]	Chr18:958974..15181666 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4	copy number gain	not provided [RCV000684052]	Chr18:136226..15157836 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4	copy number gain	not provided [RCV000684054]	Chr18:136226..15198990 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1	copy number loss	not provided [RCV000684053]	Chr18:136226..15198989 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.21(chr18:13582359-14776210)x3	copy number gain	not provided [RCV000684021]	Chr18:13582359..14776210 [GRCh37] Chr18:18p11.21	likely benign\|uncertain significance
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-q11.1(chr18:136226-18529578)x1	copy number loss	not provided [RCV001006954]	Chr18:136226..18529578 [GRCh37] Chr18:18p11.32-q11.1	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 18p11.32-11.21(chr18:124335-14139006)x1	copy number loss	not provided [RCV000752249]	Chr18:124335..14139006 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.21(chr18:13582359-14773313)x3	copy number gain	not provided [RCV000849957]	Chr18:13582359..14773313 [GRCh37] Chr18:18p11.21	uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1	copy number loss	not provided [RCV001006953]	Chr18:136226..15175005 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1	copy number loss	not provided [RCV001006947]	Chr18:136226..13894429 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1	copy number loss	See cases [RCV001007421]	Chr18:13034..15330525 [GRCh37] Chr18:18p11.32-11.21	pathogenic
NM_005913.3(MC5R):c.375C>T (p.Ser125=)	single nucleotide variant	not provided [RCV000958233]	Chr18:13826140 [GRCh38] Chr18:13826139 [GRCh37] Chr18:18p11.21	benign
GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1	copy number loss	not provided [RCV001006952]	Chr18:136304..15143714 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.21(chr18:13776957-14814649)x3	copy number gain	not provided [RCV001006948]	Chr18:13776957..14814649 [GRCh37] Chr18:18p11.21	uncertain significance
GRCh37/hg19 18p11.23-11.1(chr18:7598173-15422644)x1	copy number loss	not provided [RCV001258695]	Chr18:7598173..15422644 [GRCh37] Chr18:18p11.23-11.1	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	copy number gain	Trisomy 18 [RCV002280660]	Chr18:1..78077248 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1	copy number loss	See cases [RCV002285056]	Chr18:136226..14632436 [GRCh37] Chr18:18p11.32-11.21	pathogenic
Single allele	deletion	Deletion of short arm of chromosome 18 [RCV001391667]	Chr18:2656075..13885536 [GRCh37] Chr18:18p11.32-11.21	pathogenic
Single allele	deletion	Intellectual disability [RCV001787257]	Chr18:1262336..53254747 [GRCh37] Chr18:18p11.32-q21.2	pathogenic
GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1	copy number loss	Deletion of short arm of chromosome 18 [RCV001801193]	Chr18:10501..15410398 [GRCh37] Chr18:18p11.32-11.1	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)	copy number loss	not specified [RCV002052614]	Chr18:136226..15198990 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	copy number gain	not provided [RCV001832915]	Chr18:136226..25252276 [GRCh37] Chr18:18p11.32-q12.1	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326)	copy number gain	not specified [RCV002052611]	Chr18:136226..14384326 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	copy number gain	not specified [RCV002052616]	Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)	copy number loss	not specified [RCV002052612]	Chr18:136226..14983938 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)	copy number gain	not specified [RCV002052613]	Chr18:136226..15198990 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3	copy number gain	not provided [RCV002276058]	Chr18:47390..14854037 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.21(chr18:11290617-15106305)x3	copy number gain	not provided [RCV002472558]	Chr18:11290617..15106305 [GRCh37] Chr18:18p11.21	uncertain significance
NM_005913.3(MC5R):c.586G>A (p.Ala196Thr)	single nucleotide variant	Inborn genetic diseases [RCV002968514]	Chr18:13826351 [GRCh38] Chr18:13826350 [GRCh37] Chr18:18p11.21	likely benign
NM_005913.3(MC5R):c.551C>T (p.Thr184Ile)	single nucleotide variant	Inborn genetic diseases [RCV002997595]	Chr18:13826316 [GRCh38] Chr18:13826315 [GRCh37] Chr18:18p11.21	uncertain significance
NM_005913.3(MC5R):c.424G>C (p.Val142Leu)	single nucleotide variant	Inborn genetic diseases [RCV002902475]	Chr18:13826189 [GRCh38] Chr18:13826188 [GRCh37] Chr18:18p11.21	uncertain significance
NM_005913.3(MC5R):c.512C>T (p.Thr171Met)	single nucleotide variant	Inborn genetic diseases [RCV002946180]	Chr18:13826277 [GRCh38] Chr18:13826276 [GRCh37] Chr18:18p11.21	uncertain significance
GRCh37/hg19 18p11.21(chr18:13820511-14144453)x3	copy number gain	not provided [RCV002475634]	Chr18:13820511..14144453 [GRCh37] Chr18:18p11.21	uncertain significance
NM_005913.3(MC5R):c.883T>C (p.Tyr295His)	single nucleotide variant	Inborn genetic diseases [RCV002954906]	Chr18:13826648 [GRCh38] Chr18:13826647 [GRCh37] Chr18:18p11.21	uncertain significance
NM_005913.3(MC5R):c.857G>T (p.Cys286Phe)	single nucleotide variant	Inborn genetic diseases [RCV002802412]	Chr18:13826622 [GRCh38] Chr18:13826621 [GRCh37] Chr18:18p11.21	uncertain significance
NM_005913.3(MC5R):c.463A>G (p.Thr155Ala)	single nucleotide variant	Inborn genetic diseases [RCV002873570]	Chr18:13826228 [GRCh38] Chr18:13826227 [GRCh37] Chr18:18p11.21	uncertain significance
NM_005913.3(MC5R):c.809G>C (p.Cys270Ser)	single nucleotide variant	Inborn genetic diseases [RCV002956551]	Chr18:13826574 [GRCh38] Chr18:13826573 [GRCh37] Chr18:18p11.21	uncertain significance
NM_005913.3(MC5R):c.749G>T (p.Cys250Phe)	single nucleotide variant	Inborn genetic diseases [RCV003205716]	Chr18:13826514 [GRCh38] Chr18:13826513 [GRCh37] Chr18:18p11.21	uncertain significance
NM_005913.3(MC5R):c.968G>C (p.Arg323Thr)	single nucleotide variant	Inborn genetic diseases [RCV003176086]	Chr18:13826733 [GRCh38] Chr18:13826732 [GRCh37] Chr18:18p11.21	uncertain significance
NM_005913.3(MC5R):c.512C>A (p.Thr171Lys)	single nucleotide variant	Inborn genetic diseases [RCV003214728]	Chr18:13826277 [GRCh38] Chr18:13826276 [GRCh37] Chr18:18p11.21	uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	copy number loss	Deletion of short arm of chromosome 18 [RCV003327630]	Chr18:158286..14124574 [GRCh38] Chr18:18p11.32-11.21	pathogenic
NM_005913.3(MC5R):c.733G>T (p.Gly245Cys)	single nucleotide variant	Inborn genetic diseases [RCV003363991]	Chr18:13826498 [GRCh38] Chr18:13826497 [GRCh37] Chr18:18p11.21	uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	copy number loss	not provided [RCV003483328]	Chr18:136227..14585159 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	copy number gain	not provided [RCV003485366]	Chr18:136227..18521285 [GRCh37] Chr18:18p11.32-q11.1	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	copy number gain	not specified [RCV003986102]	Chr18:136227..15157836 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	copy number loss	not specified [RCV003987287]	Chr18:136226..15161581 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	copy number gain	not specified [RCV003987271]	Chr18:2922899..15198990 [GRCh37] Chr18:18p11.31-11.21	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	copy number gain	not specified [RCV003987266]	Chr18:136226..14148354 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	copy number gain	not specified [RCV003987269]	Chr18:136226..14455323 [GRCh37] Chr18:18p11.32-11.21	pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	copy number loss	not specified [RCV003987292]	Chr18:136226..14352648 [GRCh37] Chr18:18p11.32-11.21	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	350
Count of miRNA genes:	305
Interacting mature miRNAs:	320
Transcripts:	ENST00000324750, ENST00000589410
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.

Markers in Region

RH71364

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	13,826,688 - 13,826,808	UniSTS	GRCh37
Build 36	18	13,816,688 - 13,816,808	RGD	NCBI36
Celera	18	13,707,874 - 13,707,994	RGD
Cytogenetic Map	18	p11.2	UniSTS
HuRef	18	13,779,926 - 13,780,046	UniSTS

MARC_28657-28658:1062515202:1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	13,825,918 - 13,826,566	UniSTS	GRCh37
Build 36	18	13,815,918 - 13,816,566	RGD	NCBI36
Celera	18	13,707,104 - 13,707,752	RGD
HuRef	18	13,779,156 - 13,779,804	UniSTS

MC5R

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	13,825,778 - 13,826,463	UniSTS	GRCh37
Celera	18	13,706,964 - 13,707,649	UniSTS
HuRef	18	13,779,016 - 13,779,701	UniSTS

UniSTS:481427

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	18	13,825,765 - 13,826,742	UniSTS	GRCh37
Celera	18	13,706,951 - 13,707,928	UniSTS
HuRef	18	13,779,003 - 13,779,980	UniSTS

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

adipose tissue

appendage

entire extraembryonic component

High

Medium

Low

350

306

Below cutoff

919

375

551

237

1541

629

2072

386

306

515

848

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_005913	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AP001525	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY268429	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC069153	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC069545	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC095531	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471113	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068260	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DR002771	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF444993	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L27080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U08353	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z25470	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000324750 ⟹ ENSP00000318077

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	13,825,544 - 13,826,862 (+)	Ensembl

RefSeq Acc Id:

ENST00000589410 ⟹ ENSP00000468086

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	18	13,824,149 - 13,827,323 (+)	Ensembl

RefSeq Acc Id:

NM_005913 ⟹ NP_005904

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	18	13,824,149 - 13,827,323 (+)	NCBI
GRCh37	18	13,825,543 - 13,826,861 (+)	ENTREZGENE
Build 36	18	13,815,765 - 13,816,742 (+)	NCBI Archive
HuRef	18	13,778,780 - 13,780,099 (+)	ENTREZGENE
CHM1_1	18	13,824,630 - 13,825,948 (+)	NCBI
T2T-CHM13v2.0	18	13,986,528 - 13,989,701 (+)	NCBI

Sequence:

show sequence

AGAGCCGCAGCCGCCTAGCTGGGGGAGAGGCCCGTCCGGGGCTGGCTCTGAGCGCCGCACGGCC
GTCGGATCCCGGGGACGCCGGGGGCCCGGGCTGAGCGCCGCGGCCCGCGAGGAGGAGCACCGTA
AATTTGCTGCCAAGACAAGAGGTGTATTTCTCCAGCAATGAATTCCTCATTTCACCTGCATTTC
TTGGATCTCAACCTGAATGCCACAGAGGGCAACCTTTCAGGACCCAATGTCAAAAACAAGTCTT
CACCATGTGAAGACATGGGCATTGCTGTGGAGGTGTTTCTCACTCTGGGTGTCATCAGCCTCTT
GGAGAACATCTTGGTCATAGGGGCCATAGTGAAGAACAAAAACCTGCACTCCCCCATGTACTTC
TTCGTGTGCAGCCTGGCAGTGGCGGACATGCTGGTGAGCATGTCCAGTGCCTGGGAGACCATCA
CCATCTACCTACTCAACAACAAGCACCTAGTGATAGCAGACGCCTTTGTGCGCCACATTGACAA
TGTGTTTGACTCCATGATCTGCATTTCCGTGGTGGCATCCATGTGCAGCTTACTGGCCATTGCA
GTGGATAGGTACGTCACCATCTTCTACGCCCTGCGCTACCACCACATCATGACGGCGAGGCGCT
CAGGGGCCATCATCGCCGGCATCTGGGCTTTCTGCACGGGCTGCGGCATTGTCTTCATCCTGTA
CTCAGAATCCACCTACGTCATCCTGTGCCTCATCTCCATGTTCTTCGCTATGCTGTTCCTCCTG
GTGTCTCTGTACATACACATGTTCCTCCTGGCGCGGACTCACGTCAAGCGGATCGCGGCTCTGC
CCGGGGCCAGCTCTGCGCGGCAGAGGACCAGCATGCAGGGCGCGGTCACCGTCACCATGCTGCT
GGGCGTGTTTACCGTGTGCTGGGCCCCGTTCTTCCTTCATCTCACTTTAATGCTTTCTTGCCCT
CAGAACCTCTACTGCTCTCGCTTCATGTCTCACTTCAATATGTACCTCATACTCATCATGTGTA
ATTCCGTGATGGACCCTCTCATATATGCCTTCCGCAGCCAAGAGATGCGGAAGACCTTTAAGGA
GATTATTTGCTGCCGTGGTTTCAGGATCGCCTGCAGCTTTCCCAGAAGGGATTAAGCACAAAGT
GCTCCTCTCTGTGGCTCTGTTCTCCTTTGTTTGCTCACCTATGACAAAGCGACAGCCAAGGGGT
AGGCGGGAGTGCTAGCATCCCATTTTTCTCTTTACCAGCTCAGACATGGGCCTAAGAGGCTCTC
TCTGTTCAGTTCCTGGTGATTATGTCCAACATGCAAGGGTTGCTTATCCACTCTGGGGACAGTC
ATGACAATTTCTTACTGTCCTTTTGTGTCCTATGGTTTCTACTGCTCCCACCCATTTCTGGGGG
CCCCATCCACCCTCCACCTAGCAGGCATGTGCTCGGGGAATGCACAGCACCCTCAGTGCAAGCC
AGACATGATGAAACACGTATTGTGACGCGAAGAAAACCGTGATATCGACGCCAGGTGGGATTGC
TTCTTCTCCCCAGAAGCAGGTCCACACTCTGCTGGCTGCACTCTGAGCTATGCATGCTTTTCAG
GGAAGAAAAGAGTGGCCAGATTCTTTCCATCAGAAGCAATCTGTTCATTTGTTCTGAAATGTCT
TCTTTGCTCCCCTTGCCTGAACTTTTGATTCATGGCTTTTGTTCATAATTGTCTGAATA

hide sequence

Protein Sequences


Protein RefSeqs	NP_005904	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA59566	(Get FASTA)	NCBI Sequence Viewer
	AAB60376	(Get FASTA)	NCBI Sequence Viewer
	AAH69153	(Get FASTA)	NCBI Sequence Viewer
	AAH69545	(Get FASTA)	NCBI Sequence Viewer
	AAH95531	(Get FASTA)	NCBI Sequence Viewer
	AAP23196	(Get FASTA)	NCBI Sequence Viewer
	ACA06012	(Get FASTA)	NCBI Sequence Viewer
	CAA80962	(Get FASTA)	NCBI Sequence Viewer
	EAX01504	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000318077.3
	ENSP00000468086
	ENSP00000468086.2
GenBank Protein	P33032	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_005904 ⟸ NM_005913

- UniProtKB:

B0YJ34 (UniProtKB/Swiss-Prot), Q502V1 (UniProtKB/Swiss-Prot), P33032 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MNSSFHLHFLDLNLNATEGNLSGPNVKNKSSPCEDMGIAVEVFLTLGVISLLENILVIGAIVKN
KNLHSPMYFFVCSLAVADMLVSMSSAWETITIYLLNNKHLVIADAFVRHIDNVFDSMICISVVA
SMCSLLAIAVDRYVTIFYALRYHHIMTARRSGAIIAGIWAFCTGCGIVFILYSESTYVILCLIS
MFFAMLFLLVSLYIHMFLLARTHVKRIAALPGASSARQRTSMQGAVTVTMLLGVFTVCWAPFFL
HLTLMLSCPQNLYCSRFMSHFNMYLILIMCNSVMDPLIYAFRSQEMRKTFKEIICCRGFRIACS
FPRRD

hide sequence

RefSeq Acc Id:

ENSP00000318077 ⟸ ENST00000324750

RefSeq Acc Id:

ENSP00000468086 ⟸ ENST00000589410

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P33032-F1-model_v2	AlphaFold	P33032	1-325	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:6933	AgrOrtholog
COSMIC	MC5R	COSMIC
Ensembl Genes	ENSG00000176136	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000324750.5	UniProtKB/Swiss-Prot
	ENST00000589410	ENTREZGENE
	ENST00000589410.2	UniProtKB/Swiss-Prot
Gene3D-CATH	Rhodopsin 7-helix transmembrane proteins	UniProtKB/Swiss-Prot
GTEx	ENSG00000176136	GTEx
HGNC ID	HGNC:6933	ENTREZGENE
Human Proteome Map	MC5R	Human Proteome Map
InterPro	GPCR_Rhodpsn	UniProtKB/Swiss-Prot
	GPCR_Rhodpsn_7TM	UniProtKB/Swiss-Prot
	Melancort_rcpt	UniProtKB/Swiss-Prot
	Melancort_rcpt_5	UniProtKB/Swiss-Prot
	Melcrt_ACTH_rcpt	UniProtKB/Swiss-Prot
KEGG Report	hsa:4161	UniProtKB/Swiss-Prot
NCBI Gene	4161	ENTREZGENE
OMIM	600042	OMIM
PANTHER	G-PROTEIN COUPLED RECEPTOR	UniProtKB/Swiss-Prot
	PTHR22750:SF5	UniProtKB/Swiss-Prot
Pfam	7tm_1	UniProtKB/Swiss-Prot
PharmGKB	PA30677	PharmGKB
PRINTS	GPCRRHODOPSN	UniProtKB/Swiss-Prot
	MCRFAMILY	UniProtKB/Swiss-Prot
	MELNOCORTINR	UniProtKB/Swiss-Prot
	MELNOCORTN5R	UniProtKB/Swiss-Prot
PROSITE	G_PROTEIN_RECEP_F1_1	UniProtKB/Swiss-Prot
	G_PROTEIN_RECEP_F1_2	UniProtKB/Swiss-Prot
SMART	7TM_GPCR_Srsx	UniProtKB/Swiss-Prot
Superfamily-SCOP	Family A G protein-coupled receptor-like	UniProtKB/Swiss-Prot
UniProt	B0YJ34	ENTREZGENE
	MC5R_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q502V1	ENTREZGENE
UniProt Secondary	B0YJ34	UniProtKB/Swiss-Prot
	Q502V1	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

RGD Manual Annotations

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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