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27315 PGAP2

27315

PGAP2

post-GPI attachment to proteins 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition post-GPI attachment to proteins 2

研究结论

Date Results Publications
2021-03-27 14:43:00 A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder. 31805394
2018-07-14 11:43:00 A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers. 29119105
2013-06-08 11:35:00 Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. 23561846
2013-06-08 11:35:00 PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. 23561847

名称对应

Type IDs
Synonymous CWH43-N, FRAG1, HPMRS3, MRT17, MRT21
Gene
UniProtKB-ID: PGAP2_HUMAN, A0A0S2Z568_HUMAN, A0A024RCC6_HUMAN, A0A0A0MS75_HUMAN, A8MYS5_HUMAN, H0YDQ4_HUMAN, A0A024RCD5_HUMAN, B7Z2X5_HUMAN
UniprotKB: Q9UHJ9, A0A0S2Z568, A0A024RCC6, A0A0A0MS75, A8MYS5, H0YDQ4, A0A024RCD5, B7Z2X5
UniParc: UPI0001F785CB, UPI0000D4D69C, UPI000006E9EC, UPI0000071A2B, UPI0000EE77BD, UPI0001914C5D, UPI0000E592F1, UPI00001C1C68, UPI000194B739
EMBL: AF159620, KU178608, AF159619, BX379511, AK295202, AY373030, AF159615, KU178611, CH471158, AL096753, AF159618, BC009930, AF159617, AF159621, AK292181, AF159616, AC090587
Ensembl: ENSG00000148985
KO: hsa:27315
Nucleutide sequences
EMBL-CDS: EAX02569.1, CAB46428.3, AAF12755.1, AAF19156.1, AAQ75733.1, EAX02571.1, BAF84870.1, AAH09930.1, EAX02568.1, ALQ34066.1, EAX02573.1, EAX02574.1, EAX02570.1, ALQ34069.1, EAX02572.1, BAH12011.1
Gene_ORFName: hCG_16163, hCG_16163, hCG_16163, hCG_16163
Ensembl_TRS: ENST00000300730, ENST00000493547, ENST00000278243, ENST00000463452, ENST00000464906, ENST00000396991, ENST00000396986, ENST00000464261, ENST00000465307
Protein sequencees
Ensembl_PRO: ENSP00000300730, ENSP00000431851, ENSP00000435223, ENSP00000278243, ENSP00000434631, ENSP00000380188, ENSP00000380183, ENSP00000434088, ENSP00000434401
RefSeq: NP_001333326.1, XP_011518306.1, XP_011518309.1, NP_001333333.1, XP_016873047.1, NP_001243166.1, NP_001269968.1, NP_001333331.1, XP_011518293.2, XP_011518300.1, XP_011518294.1, XP_011518292.2, NP_001269967.1, XP_024304210.1, XP_011518296.2, NP_001333327.1, NP_001269969.1, NP_001243167.1, NP_001333332.1, NP_001333334.1, XP_011518305.1, NP_001243165.1, XP_011518301.1, XP_006718253.1, XP_006718254.1, NP_001333329.1, XP_011518308.1, XP_016873049.1, XP_024304212.1, XP_024304211.1, XP_006718248.1, NP_001333328.1, XP_006718256.1, XP_006718249.1, NP_001243169.1, XP_011518299.1, NP_001243168.1, XP_024304214.1, XP_006718244.1, NP_055304.1, NP_001243164.1, XP_016873048.1, XP_011518298.1, XP_011518304.1, NP_001333330.1, NP_001138910.1, XP_024304213.1
Others
UniRef100: UniRef100_Q9UHJ9, UniRef100_A0A024RCC6, UniRef100_A0A0A0MS75, UniRef100_B7Z2X5, UniRef100_H0YDQ4, UniRef100_Q9UHJ9-5
UniRef90: UniRef90_E9PKT0, UniRef90_A0A0A0MS75, UniRef90_Q9UHJ9, UniRef90_Q9UHJ9-5, UniRef90_H0YDQ4, UniRef90_B7Z2X5
UniRef50: UniRef50_B7Z2X5, UniRef50_Q9UHJ9-5, UniRef50_Q9UHJ9, UniRef50_H0YDQ4
UniGene: Hs.133968
CCDS: CCDS58113.1, CCDS7747.1, CCDS58112.1, CCDS44523.1

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