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
289658492017Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest.14
289658442017Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2.6
296619112018PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice.5
296978012018Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrest.4
307658662019Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertility.3

Citation

Dessen P

PATL2 (PAT1 homolog 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71679/patl2