PATL2 (PAT1 homolog 2)

Gene

• Entrez ID: 197135
• Gene name: PAT1 homolog 2
• Gene symbol: PATL2
• Synonyms (NCBI Gene): OOMD4, OZEMA4, Pat1a, hPat1a
• Chromosome: 15
• Chromosome location: 15q21.1

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs548527219	G>A	Likely-pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, intron variant
rs751701388	TGGAACAGGAGGG>-	Pathogenic	Intron variant, splice acceptor variant
rs752734259	A>G,T	Pathogenic	Stop gained, coding sequence variant, intron variant, 5 prime UTR variant, synonymous variant
rs1156737044	A>C	Likely-pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, missense variant
rs1351320025	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1361024832	A>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1555385717	A>C,G	Pathogenic	Splice donor variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000290	Process	Deadenylation-dependent decapping of nuclear-transcribed mRNA	IBA
GO:0000290	Process	Deadenylation-dependent decapping of nuclear-transcribed mRNA	IEA
GO:0000932	Component	P-body	IBA
GO:0000932	Component	P-body	IEA
GO:0003723	Function	RNA binding	IBA
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	ISS
GO:0005515	Function	Protein binding	IPI	20584987
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IDA	20584987
GO:0005737	Component	Cytoplasm	IEA
GO:0010607	Process	Negative regulation of cytoplasmic mRNA processing body assembly	IEA
GO:0017148	Process	Negative regulation of translation	ISS
GO:0033962	Process	P-body assembly	IBA
GO:1990904	Component	Ribonucleoprotein complex	ISS

Other IDs

• MIM: 614661
• HGNC: 33630
• e!Ensembl: ENSG00000229474

Protein

• UniProt ID: C9JE40
• Protein name: Protein PAT1 homolog 2 (PAT1-like protein 2) (Protein PAT1 homolog a) (Pat1a) (hPat1a)
• Protein function: RNA-binding protein that acts as a translational repressor.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09770	PAT1	252 → 491	Topoisomerase II-associated protein PAT1	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in oocytes. {ECO:0000269|PubMed:28965849}.
• Sequence:

  MNCLEGPGKTCGPLASEEELVSACQLEKEEENEGEEEEEEEDEEDLDPDLDPDLEEEEND
  LGDPAVLGAVHNTQRALLSSPGVKAPGMLGMSLASLHFLWQTLDYLSPIPFWPTFPSTSS
  PAQHFGPRLPSPDPTLFCSLLTSWPPRFSHLTQLHPRHQRILQQQQHSQTPSPPAKKPWS
  QQPDPYANLMTRKEKDWVIKVQMVQLQSAKPRLDDYYYQEYYQKLEKKQADEELLGRRNR
  VESLKLVTPYIPKAEAYESVVRIEGSLGQVAVSTCFSPRRAIDAVPHGTQEQDIEAASSQ
  RLRVLYRIEKMFLQLLEIEEGWKYRPPPPCFSEQQSNQVEKLFQTLKTQEQNNLEEAADG
  FLQVLSVRKGKALVARLLPFLPQDQAVTILLAITHHLPLLVRRDVADQALQMLFKPLGKC
  ISHLTLHELLQGLQGLTLLPPGSSERPVTVVLQNQFGISLLYALLSHGEQLVSLHSSLEE
  PNSDHTAWTDMVVLIAWEIAQMPTASLAEPLAFPSNLLPLFCHHVDKQLVQQLEARMEFA
  WIY

• Sequence length: 543

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Oocyte maturation defect 2	Likely pathogenic	rs548527219	RCV001449808	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oocyte maturation defect 4	Pathogenic; Likely pathogenic	rs1341424851, rs1350038531, rs2505872051, rs548527219, rs1351320025, rs752734259, rs751701388, rs1555385717, rs1361024832, rs1156737044	RCV001784797 RCV001782567 RCV003221764 RCV000512633 RCV000512640 RCV000512632 RCV000512638 RCV000512641 RCV000664054 RCV000664058	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
FEMALE INFERTILITY DUE TO OOCYTE MEIOTIC ARREST	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OOCYTE MATURATION DEFECT-4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 4	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PATL2-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	35091966	Associate	★☆☆☆☆ Found in Text Mining only
Female infertility due to oocyte meiotic arrest	Female infertility	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infertility	Infertility	Pubtator	28965844, 35091966	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Female	Female infertility	Pubtator	28965849, 32048119, 35091966, 38536595	Associate	★☆☆☆☆ Found in Text Mining only
OOCYTE MATURATION DEFECT 4	Oocyte Maturation Defect	CLINVAR_DG	28965844, 28965849		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
OOCYTE MATURATION DEFECT 4	Oocyte Maturation Defect	UNIPROT_DG	28965844, 28965849		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	34008465	Associate	★☆☆☆☆ Found in Text Mining only