• Gene id: 55124

Gene Summary

• Gene Symbol: PIWIL2   Gene   UCSC   Ensembl
• Aliases: CT80, HILI, PIWIL1L, mili
• Gene name: piwi like RNA-mediated gene silencing 2
• Alternate names: piwi-like protein 2, 80kDa PIWIL2 short isoform, cancer/testis antigen 80, piwi-like 2, piwil2-like protein, testicular tissue protein Li 141,
• Gene location: 8p21.3 (22275279: 22356865)     Exons: 25     NC_000008.11
• Gene summary(Entrez): PIWIL2 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008]
• OMIM: 610312

Protein Summary

• Protein general information: Q8TC59  
  • Name: Piwi like protein 2 (EC 3.1.26. ) (Cancer/testis antigen 80) (CT80)
  • Length: 973  
  • Mass: 109,849
• Sequence:

  MDPFRPSFRGQSPIHPSQCQAVRMPGCWPQASKPLDPALGRGAPAGRGHVFGKPEEPSTQRGPAQRESVGLVSMF
  RGLGIETVSKTPLKREMLPSGRGILGRGLSANLVRKDREELSPTFWDPKVLAAGDSKMAETSVGWSRTLGRGSSD
  ASLLPLGRAAGGISREVDKPPCTFSTPSRGPPQLSSPPALPQSPLHSPDRPLVLTVEHKEKELIVKQGSKGTPQS
  LGLNLVKIQCHNEAVYQYHVTFSPNVECKSMRFGMLKDHQAVTGNVTAFDGSILYLPVKLQQVLELKSQRKTDSA
  EISIKIQMTKILEPCSDLCIPFYNVVFRRVMKLLDMKLVGRNFYDPTSAMVLQQHRLQIWPGYAASIRRTDGGLF
  LLADVSHKVIRNDCVLDVMHAIYQQNKEHFQDECTKLLVGNIVITRYNNRTYRIDDVDWNKTPKDSFTMSDGKEI
  TFLEYYSKNYGITVKEEDQPLLIHRPSERQDNHGMLLKGEILLLPELSFMTGIPEKMKKDFRAMKDLAQQINLSP
  KQHHSALECLLQRIAKNEAATNELMRWGLRLQKDVHKIEGRVLPMERINLKNTSFITSQELNWVKEVTRDPSILT
  IPMHFWALFYPKRAMDQARELVNMLEKIAGPIGMRMSPPAWVELKDDRIETYVRTIQSTLGAEGKIQMVVCIIMG
  PRDDLYGAIKKLCCVQSPVPSQVVNVRTIGQPTRLRSVAQKILLQINCKLGGELWGVDIPLKQLMVIGMDVYHDP
  SRGMRSVVGFVASINLTLTKWYSRVVFQMPHQEIVDSLKLCLVGSLKKFYEVNHCLPEKIVVYRDGVSDGQLKTV
  ANYEIPQLQKCFEAFENYQPKMVVFVVQKKISTNLYLAAPQNFVTPTPGTVVDHTITSCEWVDFYLLAHHVRQGC
  GIPTHYVCVLNTANLSPDHMQRLTFKLCHMYWNWPGTIRVPAPCKYAHKLAFLSGHILHHEPAIQLCENLFFL

• Structural information:
  • Protein Domains: PAZ. (384-496)
    Piwi. (668-959)
  • Interpro: IPR014811  IPR003100  IPR036085  IPR003165  IPR012337   IPR036397  
  • Prosite: PS50821 PS50822
  • PDB: 3O7X 3QIR
  • PDBsum: 3O7X 3QIR
  • STRING: ENSP00000349208
• Other Databases: GeneCards:  PIWIL2  Malacards:  PIWIL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000966	RNA 5'-end processing	ISS	biological process
GO:0003729	mRNA binding	IEA	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005844	polysome	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0010370	perinucleolar chromocenter	IEA	cellular component
GO:0030718	germ-line stem cell population maintenance	ISS	biological process
GO:0031047	gene silencing by RNA	ISS	biological process
GO:0033391	chromatoid body	ISS	cellular component
GO:0034584	piRNA binding	ISS	molecular function
GO:0034584	piRNA binding	IDA	molecular function
GO:0034587	piRNA metabolic process	ISS	biological process
GO:0043046	DNA methylation involved in gamete generation	ISS	biological process
GO:0043186	P granule	ISS	cellular component
GO:0045727	positive regulation of translation	ISS	biological process
GO:0048477	oogenesis	ISS	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0060903	positive regulation of meiosis I	IEA	biological process
GO:0071442	positive regulation of histone H3-K14 acetylation	IEA	biological process
GO:0071546	pi-body	ISS	cellular component
GO:0097433	dense body	IEA	cellular component
GO:1990923	PET complex	ISS	cellular component
GO:2000617	positive regulation of histone H3-K9 acetylation	IEA	biological process
GO:0000966	RNA 5'-end processing	IEA	biological process
GO:0000966	RNA 5'-end processing	ISS	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0003729	mRNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005844	polysome	IEA	cellular component
GO:0006417	regulation of translation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0010370	perinucleolar chromocenter	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0030718	germ-line stem cell population maintenance	IEA	biological process
GO:0030718	germ-line stem cell population maintenance	ISS	biological process
GO:0031047	gene silencing by RNA	IEA	biological process
GO:0031047	gene silencing by RNA	ISS	biological process
GO:0031047	gene silencing by RNA	IEA	biological process
GO:0033391	chromatoid body	IEA	cellular component
GO:0033391	chromatoid body	ISS	cellular component
GO:0034584	piRNA binding	IEA	molecular function
GO:0034584	piRNA binding	ISS	molecular function
GO:0034584	piRNA binding	IDA	molecular function
GO:0034587	piRNA metabolic process	IEA	biological process
GO:0034587	piRNA metabolic process	ISS	biological process
GO:0043046	DNA methylation involved in gamete generation	IEA	biological process
GO:0043046	DNA methylation involved in gamete generation	ISS	biological process
GO:0043186	P granule	IEA	cellular component
GO:0043186	P granule	ISS	cellular component
GO:0045727	positive regulation of translation	IEA	biological process
GO:0045727	positive regulation of translation	ISS	biological process
GO:0048477	oogenesis	IEA	biological process
GO:0048477	oogenesis	ISS	biological process
GO:0048477	oogenesis	IEA	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0060903	positive regulation of meiosis I	IEA	biological process
GO:0071442	positive regulation of histone H3-K14 acetylation	IEA	biological process
GO:0071546	pi-body	IEA	cellular component
GO:0071546	pi-body	ISS	cellular component
GO:0097433	dense body	IEA	cellular component
GO:1990923	PET complex	ISS	cellular component
GO:2000617	positive regulation of histone H3-K9 acetylation	IEA	biological process
GO:0000966	RNA 5'-end processing	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0030718	germ-line stem cell population maintenance	ISS	biological process
GO:0031047	gene silencing by RNA	ISS	biological process
GO:0033391	chromatoid body	ISS	cellular component
GO:0034584	piRNA binding	ISS	molecular function
GO:0034584	piRNA binding	IDA	molecular function
GO:0034587	piRNA metabolic process	ISS	biological process
GO:0043046	DNA methylation involved in gamete generation	ISS	biological process
GO:0043186	P granule	ISS	cellular component
GO:0045727	positive regulation of translation	ISS	biological process
GO:0048477	oogenesis	ISS	biological process
GO:0071546	pi-body	ISS	cellular component
GO:1990923	PET complex	ISS	cellular component

Diseases

Associated diseases	References
Spermatogenesis defects	MIK: 24524831
Male factor infertility	MIK: 22223142
Azoospermia	MIK: 20940137
Cryptorchidism	MIK: 22223142
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 22223142
Male infertility	MIK: 24524831
Spermatogenetic defects	MIK: 24524831
Represents a regulatory mechanism that is critical for spermatogenesis	MIK: 19345100
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24524831	Male infertility, Spermatogenetic defects			40 (30 infertile men with normal CFTR and AZF tests and karyotype, 10 fertile male controls)	Male infertility
22223142	Cryptorchidism			22 (18 cryptorchid, 4 control testes)	Male infertility	PIWIL2
19345100	Represents a regulatory mechanism that is critical for spermatogenesis				Male infertility
14736746	Essential for spermatogenesis				Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray