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4158 MC2R

4158

MC2R

melanocortin 2 receptor

protein-coding

Homo sapiens

基因描述

Type Description
Definition melanocortin 2 receptor

研究结论

Date Results Publications
2019-11-16 11:09:00 Results indicate that substitution of the amino acid residue leucine to isoleucine in 112 (L112I) of one of the transmembrane domains in the MC2R changes from both DPhe-ACTH1-17 and ACTH1-15 from no activity to agonists. Also, mutation L112I switches alpha-MSH from no activity to agonist, suggesting that this residue plays a key role at MC2R for ligand ACTH or alpha-MSH selectivity. 30553806
2017-08-05 12:12:00 Results show regulation of melanocortin receptors MC2R, MC3R and MC4R gene expressions in CD8(+) cytotoxic T-lymphocytes and CD19(+) B lymphocytes in rheumatoid arthritis (RA) treated with tumor necrosis factor-alpha (TNF-alpha) inhibitor adalimumab. 28426141
2017-07-15 10:33:00 Four rare missense variants were identified (ACTBL2 rs73757391 (5q11.2), BTD rs200337373 (3p25.1), KRT13 rs150321809 (17q21.2) and MC2R rs104894658 (18p11.21)), but only MC2R rs104894668 had a large effect size (OR = 9.66). 27378695
2016-07-30 11:18:00 melanocortin receptors MC2R, MC3R and MC5R are most abundantly expressed in glandular epithelium of the endometrium 26223677
2016-04-23 10:43:00 MC2R and MC1R signals are consecutively required for the regulation of EPO signal transduction in erythroblast differentiation, and MC5R signal transduction is required to induce enucleation. 25860801

名称对应

Type IDs
Synonymous ACTHR
Gene
UniProtKB-ID: ACTHR_HUMAN
UniprotKB: Q01718
UniParc: UPI00000503E5
EMBL: AK289381, BC104169, X65633, BC104170, AB065915, BC094710, AY225229, BC069074, CH471113, AK315319
Ensembl: ENSG00000185231
KO: hsa:4158
Nucleutide sequences
EMBL-CDS: AAI04171.1, BAG37722.1, CAA46587.1, BAF82070.1, BAC06130.1, EAX01503.1, AAH94710.1, AAI04170.1, AAH69074.1, AAO67714.1
Ensembl_TRS: ENST00000327606
Protein sequencees
Ensembl_PRO: ENSP00000333821
RefSeq: XP_016881270.1, NP_000520.1, NP_001278840.1
Others
UniRef100: UniRef100_Q01718
UniRef90: UniRef90_Q01718
UniRef50: UniRef50_Q01718
UniGene: Hs.248144
CCDS: CCDS11869.1

全选

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