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56955 MEPE

56955

MEPE

matrix extracellular phosphoglycoprotein

protein-coding

Homo sapiens

基因描述

Type Description
Definition matrix extracellular phosphoglycoprotein

研究结论

Date Results Publications
2020-11-21 13:19:00 MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk. 33097703
2020-02-15 10:16:00 sequencing identified a rare segregating heterozygous frameshift variant p.(Gln425Lysfs*38) in MEPE. We performed variant burden and variance components analyses in a large otosclerosis cohort and demonstrated that nonsense and frameshift MEPE variants were significantly enriched in affected subjects (p = 0.0006-0.0060). 30287925
2014-05-17 12:12:00 Results indicate an association of MEPE gene inactivation with decreased survival after DNA damage. 23570370
2014-03-27 11:07:00 Mice deficient in an ortholog of MEPE show increased bone mass and are resistant to aging-related bone loss. 12421822
2012-07-21 10:43:00 results indicated that MEPE appeared to play an important positive role in proliferation and osteogenesis differentiation of DPCs through interaction with downstream signals. 22341070

名称对应

Type IDs
Synonymous OF45
Gene
UniProtKB-ID: MEPE_HUMAN, Q8NC19_HUMAN, A0A024RDD1_HUMAN
UniprotKB: Q9NQ76, Q8NC19, A0A024RDD1
UniParc: UPI0001D27F85, UPI000003B034, UPI0000071B80, UPI0000E5AC25
EMBL: BC128158, AC093768, AK075076, CH471057, AF325916, AJ276396, DQ854717
Ensembl: ENSG00000152595
KO: hsa:56955
Nucleutide sequences
EMBL-CDS: CAB97250.1, EAX06002.1, EAX06001.1, AAK70343.1, ABI64294.1, AAI28159.1, BAC11386.1, EAX06003.1
Gene_ORFName: hCG_38545
Ensembl_TRS: ENST00000361056, ENST00000560249, ENST00000540395, ENST00000395102, ENST00000424957
Protein sequencees
Ensembl_PRO: ENSP00000453994, ENSP00000354341, ENSP00000378534, ENSP00000416984, ENSP00000443491
RefSeq: NP_001171625.1, NP_001171623.1, NP_001278112.1, NP_064588.1, NP_001171624.1, NP_001171626.1
Others
UniRef100: UniRef100_Q8NC19, UniRef100_Q9NQ76
UniRef90: UniRef90_Q8NC19, UniRef90_Q9NQ76
UniRef50: UniRef50_A0A2I3LUK4, UniRef50_Q9NQ76
UniGene: Hs.676357
CCDS: CCDS77940.1, CCDS54776.1, CCDS3625.1

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