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53 ACP2

53

ACP2

acid phosphatase 2, lysosomal

protein-coding

Homo sapiens

基因描述

Type Description
Definition acid phosphatase 2, lysosomal

研究结论

Date Results Publications
2018-11-17 10:45:00 In addition to replicating a previously identified genome-wide significant locus for corneal astigmatism near the PDGFRA gene, gene-based analysis identified three novel candidate genes, CLDN7, ACP2, and TNFAIP8L3, that warrant further investigation to understand their role in the pathogenesis of corneal astigmatism. (Meta-analysis) 29422769
2017-08-12 10:58:00 Data show that lysosomal acid phosphatase 2 (ACP2) was overexpressed in colorectal cancer (CRC) and associated with poor outcome in stage II CRC, and that high expression of ACP2 patients were more sensitive to chemotherapy than those with a low expression, suggesting ACP2 as a marker for CRC patients receiving chemotherapy. 28076332
2014-10-22 10:27:00 An enzymatically inactive allele of mouse Acp2 causes cerebellum abnormalities, growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. 15503243
2014-10-22 10:26:00 LAP-deficient mice exhibit multiple defects including bone structure alterations, lysosomal storage defects in the kidneys and central nervous system, and an increased tendency towards seizures. 9228031
2009-09-20 21:33:00 Observational study of gene-disease association. (HuGE Navigator) 19064571

名称对应

Type IDs
Synonymous LAP
Gene
UniProtKB-ID: PPAL_HUMAN, E9PHY0_HUMAN, B7Z6T8_HUMAN, B7Z6L8_HUMAN, E9PQY3_HUMAN, B7Z4Z2_HUMAN, B7Z8T9_HUMAN, B7Z7D2_HUMAN, B7Z552_HUMAN
UniprotKB: P11117, E9PHY0, B7Z6T8, B7Z6L8, E9PQY3, B7Z4Z2, B7Z8T9, B7Z7D2, B7Z552
UniParc: UPI00019152C0, UPI0000131FE1, UPI0001915089, UPI0001914E59, UPI0001F77D18, UPI0001915191, UPI0001F77D1A, UPI00017C1448, UPI0001915044, UPI0001915282
EMBL: AK298439, X15531, DA382854, X15525, AK303894, X15529, X15534, X15530, AK301860, AK300569, X15532, BC093010, X15535, X15533, X15526, X15528, AC018410, X15527, AK298122, AK300911, BC003160, X12548
Ensembl: ENSG00000134575
KO: hsa:53
Nucleutide sequences
EMBL-CDS: CAA33542.1, AAH03160.1, AAH93010.1, CAA31064.1, BAH13374.1, BAH13304.1, BAH12728.1, BAH14075.1, BAH13568.1, BAH12788.1
Ensembl_TRS: ENST00000672073, ENST00000256997, ENST00000529444, ENST00000533929, ENST00000527256
Protein sequencees
Ensembl_PRO: ENSP00000256997, ENSP00000500291, ENSP00000436658, ENSP00000432439, ENSP00000432205
RefSeq: NP_001289418.1, NP_001289421.1, NP_001343945.1, NP_001289419.1, NP_001289420.1, NP_001601.1
Others
UniRef100: UniRef100_E9PQY3, UniRef100_B7Z552, UniRef100_E9PHY0, UniRef100_B7Z8T9, UniRef100_P11117, UniRef100_A0A2J8WF00, UniRef100_B7Z4Z2, UniRef100_B7Z7D2, UniRef100_B7Z6L8
UniRef90: UniRef90_E2RS03, UniRef90_U6D1P2, UniRef90_P11117, UniRef90_Q5NVF6, UniRef90_B7Z6U3
UniRef50: UniRef50_Q0P5F0, UniRef50_P20611, UniRef50_P11117-2, UniRef50_P11117, UniRef50_U6D1P2
UniGene: Hs.532492
CCDS: CCDS7928.1

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