MC3R - melanocortin 3 receptor-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

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4159 MC3R

基因描述

Type	Description
Definition	melanocortin 3 receptor

研究结论

Date	Results	Publications
2020-06-27 10:59:00	positive association between rare heterozygous coding partial/complete loss-of-function mutations and obesity in children and adults of European, North African, and Asian ancestries [meta-analysis]	31090190
2020-06-13 10:15:00	in African-American adults homozygosity for the MC3R C17A + G241A haplotype was associated with a metabolically unhealthy phenotype, including increased BMI, fat mass, fat mass percentage, and systemic inflammation	30937899
2020-01-25 10:05:00	MC3R gene rs 3746619 polymorphism was found associated with polycystic ovary syndrome in the Turkish population and may make a contribution to the genetic baseline of the disease.	30784330
2019-06-01 10:17:00	meta-analysis results supported a recessive inheritance model for MC3R gene as a potential cause of childhood obesity; high clinical heterogeneity existed among studies and thus requires more research of larger participation for future integration of data	29688747
2019-02-02 12:05:00	AgRP acted as a biased agonist in MC3R, decreasing cAMP activity of constitutively active mutant (F347A) MC3R but stimulating ERK1/2 activation in both wild type and F347A MC3Rs.	27208795

名称对应

Type	IDs
Synonymous	BMIQ9, MC3, MC3-R, OB20, OQTL
Gene	UniProtKB-ID: MC3R_HUMAN UniprotKB: P41968 UniParc: UPI0000E5A34B EMBL: AY227893, AL139824, BC069105, BC098351, BC096702, L06155, BC098169, BC096737, BC069599 Ensembl: ENSG00000124089 KO: hsa:4159
Nucleutide sequences	EMBL-CDS: AAH98351.1, AAH96737.1, AAH69599.1, AAH69105.1, AAH98169.1, AAH96702.1, AAC13541.1, AAO72726.1 Ensembl_TRS: ENST00000243911
Protein sequencees	Ensembl_PRO: ENSP00000243911 RefSeq: NP_063941.3
Others	UniRef100: UniRef100_P41968 UniRef90: UniRef90_P41968 UniRef50: UniRef50_P32245 UniGene: Hs.248018 CCDS: CCDS13449.2

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mRNA

Protein

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Pubmed编号	文献信息	发表日期	相关基因
30937899	Associations of the melanocortin 3 receptor C17A + G241A haplotype with body composition and inflammation in African-American adults. Ann Hum Genet Andrew P Demidowich , Viraj J Parikh , Nicket Dedhia , Rachel E Branham , Samar A Madi , Shannon E Marwitz , Robin B Roberson , Andrew J Uhlman , Noah J Levi , Sarah J Mi , Joo Yun Jun , Miranda M Broadney , Sheila M Brady , Jack A Yanovski	2019-09-01	-
31090190	Loss-of-function mutations in the melanocortin-3 receptor gene confer risk for human obesity: A systematic review and meta-analysis. Obes Rev Sahar Ehtesham , Anila Qasim , David Meyre	2019-08-01	-
30784330	Melanocortin 3 receptor gene polymorphism is associated with polycystic ovary syndrome in Turkish population. Gynecol. Endocrinol. Sema Hepsen , Erman Cakal , Melia Karakose , Nilnur Eyerci , Hanife Saat , Selvihan Beysel , Sanem Oztekin , Ferda Pinarli , Mesut Parlak	2019-08-01	-
29688747	Association between Two Common Missense Substitutions, Thr6Lys and Val81Ile, in MC3R Gene and Childhood Obesity: A Meta-Analysis. Child Obes Charita Koya , Tsung Yu , Carol Strong , Meng-Che Tsai	2018-04-24	-
28363697	Polymorphisms and mutations in the melanocortin-3 receptor and their relation to human obesity. Biochim Biophys Acta Mol Basis Dis Andrew P Demidowich , Joo Yun Jun , Jack A Yanovski	2017-10-01	-
28715181	Structural Insights into Selective Ligand-Receptor Interactions Leading to Receptor Inactivation Utilizing Selective Melanocortin 3 Receptor Antagonists. Biochemistry Minying Cai , Udaya Kiran Marelli , Blake Mertz , Johannes G Beck , Florian Opperer , Florian Rechenmacher , Horst Kessler , Victor J Hruby	2017-08-15	-
28426141	Melanocortin 2, 3 and 4 Receptor Gene Expressions are Downregulated in CD8(+) T Cytotoxic Lymphocytes and CD19(+) B Lymphocytes in Rheumatoid Arthritis Responding to TNF-Î± Inhibition. Scand. J. Immunol. M Andersen , I Nagaev , M K Meyer , O Nagaeva , J Wikberg , L Mincheva-Nilsson , G N Andersen	2017-07-01	-
26663875	MC3R gene polymorphisms are associated with early childhood adiposity gain and infant appetite in an Asian population. Pediatr Obes I M Aris , M T Tint , A L Teh , J D Holbrook , P L Quah , M F-F Chong , X Lin , S E Soh , S-M Saw , K Kwek , K M Godfrey , P D Gluckman , Y S Chong , N Lek , F Yap , Y S Lee	2016-12-01	-
27208795	Biased signaling initiated by agouti-related peptide through human melanocortin-3 and -4 receptors. Biochim. Biophys. Acta Zhao Yang , Ya-Xiong Tao	2016-09-01	-
26818770	A mouse model for a partially inactive obesity-associated human MC3R variant. Nat Commun Bonggi Lee , Jashin Koo , Joo Yun Jun , Oksana Gavrilova , Yongjun Lee , Arnold Y Seo , Dezmond C Taylor-Douglas , Diane C Adler-Wailes , Faye Chen , Ryan Gardner , Dimitri Koutzoumis , Roya Sherafat Kazemzadeh , Robin B Roberson , Jack A Yanovski	2016-01-28	-

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