PATL2 (PAT1 homolog 2)

2014-11-01  

Identity

HGNC
LOCATION
15q21.1
LOCUSID
ALIAS
OOMD4,Pat1a,hPat1a

Other Information

Locus ID:

NCBI: 197135
MIM: 614661
HGNC: 33630
Ensembl: ENSG00000229474

Variants:

dbSNP: 197135
ClinVar: 197135
TCGA: ENSG00000229474
COSMIC: PATL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000229474ENST00000434130C9JE40
ENSG00000229474ENST00000558481H0YNY1
ENSG00000229474ENST00000558809H0YMS5
ENSG00000229474ENST00000560110H0YN77
ENSG00000229474ENST00000560775C9JE40
ENSG00000229474ENST00000560780H0YMQ2

Expression (GTEx)

0
5
10
15

References

Pubmed IDYearTitleCitations
380871822024Reduced PATL2 Impairs the Proliferation of Ovarian Granulosa Cells by Decreasing ADM2 Expression in Patients with PCOS.1
380871822024Reduced PATL2 Impairs the Proliferation of Ovarian Granulosa Cells by Decreasing ADM2 Expression in Patients with PCOS.1
350919662022Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.6
350919662022Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest.6
340084652021PATL2 regulated the apoptosis of ovarian granulosa cells in patients with PCOS.9
340084652021PATL2 regulated the apoptosis of ovarian granulosa cells in patients with PCOS.9
320481192020Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest.16
320481192020Novel homozygous mutations in PATL2 lead to female infertility with oocyte maturation arrest.16
307658662019Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertility.21
307658662019Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertility.21
296619112018PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice.32
296978012018Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrest.21
296619112018PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice.32
296978012018Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrest.21
289658442017Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2.31

Citation

Dessen P

PATL2 (PAT1 homolog 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71679/patl2-(pat1-homolog-2)