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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Oocyte maturation defect 2	Likely pathogenic	rs548527219	RCV001449808
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

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
PATL2-related disorder	Likely benign; Benign	rs577616730, rs770246020, rs77918503, rs190933513, rs185242322, rs760378079, rs749598645, rs140098598	RCV003919796 RCV003912078 RCV003914221 RCV003961412 RCV003922326 RCV003952321 RCV003962076 RCV003953614

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Embryonal	Associate	35091966
Infertility	Associate	28965844, 35091966
Infertility Female	Associate	28965849, 32048119, 35091966, 38536595
Neoplasms Germ Cell and Embryonal	Associate	38536595
Polycystic Ovary Syndrome	Associate	34008465
Renal Insufficiency	Associate	38536595
Tertiary Lymphoid Structures	Associate	34008465