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197135 PATL2

197135

PATL2

PAT1 homolog 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition PAT1 homolog 2

研究结论

Date Results Publications
2021-01-16 15:59:00 Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest. 32048119
2019-04-20 10:46:00 This work further indicates the critical role of PATL2 in oocyte maturation and early embryo development and will provide a basis for pursuing the determination of genetic variation in PALT2 as an additional criterion for evaluating the quality of oocytes and embryos for assisted reproduction techniques. 30765866
2019-03-30 12:04:00 Data indicate PAT1 homolog 2 protein (PATL2) mutation as a major cause of oocyte meiotic deficiency. 29661911
2019-02-23 10:36:00 this study confirms previous findings that PATL2 is required for human oocyte maturation and female fertility, and also indicates the potential prognostic value of testing for PATL2 mutations in infertile women with oocyte germinal vesicle arrest. 29697801
2017-10-21 11:20:00 Mutation in PATL2 gene is associated with Female Infertility. 28965844

名称对应

Type IDs
Synonymous OOMD4, Pat1a, hPat1a
Gene
UniProtKB-ID: PATL2_HUMAN, H0YMQ2_HUMAN
UniprotKB: C9JE40, H0YMQ2
UniParc: UPI00006C1508, UPI000015FBBD
EMBL: CH471082, AC009996, AC025270
Ensembl: ENSG00000229474
KO: hsa:197135
Nucleutide sequences
EMBL-CDS: EAW77274.1
Gene_ORFName: hCG_39323
Ensembl_TRS: ENST00000560775, ENST00000434130, ENST00000560780
Protein sequencees
Ensembl_PRO: ENSP00000453915, ENSP00000416673, ENSP00000453695
RefSeq: XP_011519641.1, NP_001374193.1, XP_011519639.2, XP_011519648.2, NP_001374191.1, XP_011519649.1, XP_011519642.1, XP_011519647.1, NP_001374190.1, XP_011519638.2, XP_011519646.1, NP_001374189.1, XP_011519643.1, XP_011519644.1, NP_001138584.1, XP_016877490.1, NP_001374192.1, XP_011519645.1, NP_001317212.1, XP_011519640.1
Others
UniRef100: UniRef100_C9JE40
UniRef90: UniRef90_C9JE40
UniRef50: UniRef50_C9JE40
UniGene: Hs.11594
CCDS: CCDS45253.1

全选

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