Reviewed, UniProtKB/Swiss-Prot Q8TC59 (PIWL2_HUMAN)

Names and origin

Protein names

Recommended name:
    Piwi-like protein 2
Alternative name(s):
    Cancer/testis antigen 80
      Short name=CT80

Gene names

Name:	PIWIL2
Synonyms:	HILI

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	973 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	Plays a central role during spermatogenesis by repressing transposable elements and prevent their mobilization, which is essential for the germline integrity. Plays an essential role in meiotic differentiation of spermatocytes, germ cell differentiation and in self-renewal of spermatogonial stem cells. Its presence in oocytes suggests that it may participate to similar functions during oogenesis in females. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. Associates with primary piRNAs in the cytoplasm and is required for PIWIL4/MIWI2 nuclear localization and association with secondary piRNAs antisense. The piRNA process acts upstream of known mediators of DNA methylation. Participates to a piRNA amplification loop. Besides their function in transposable elements repression, piRNAs are probably involved in other processes during meiosis such as translation regulation. Indirectly modulate expression of genes such as PDGFRB, SLC2A1, ITGA6, GJA7, THY1, CD9 and STRA8. Inhibits tumor cell growth when repressed. When overexpressed, acts as an oncogene by inhibition of apoptosis and promotion of proliferation in tumors By similarity.
Subunit structure	Interacts with DDX4, MAEL, EIF3A, EIF4E and EIF4G. Associates with EIF4E- and EIF4G-containing m7G cap-binding complexes By similarity.
Subcellular location	Cytoplasm By similarity. Note: Present in chromatoid body. Probable component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon during meiosis By similarity.
Tissue specificity	Expressed in adult testis and in most tumors. Ref.4
Sequence similarities	Belongs to the argonaute family. Piwi subfamily. Contains 1 PAZ domain. Contains 1 Piwi domain.
Sequence caution	The sequence BAB55155.1 differs from that shown. Reason: Erroneous termination at position 421. Translated as Arg.

Ontologies

Keywords
Biological process	Differentiation Meiosis Oogenesis RNA-mediated gene silencing Spermatogenesis Translation regulation
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing
Ligand	RNA-binding
Molecular function	Developmental protein
Gene Ontology (GO)
Biological process	DNA methylation during gametogenesis Inferred from sequence or structural similarity. Source: UniProtKB RNA 5'-end processing Inferred from sequence or structural similarity. Source: UniProtKB gene silencing by RNA Inferred from sequence or structural similarity. Source: UniProtKB germ-line stem cell maintenance Inferred from sequence or structural similarity. Source: UniProtKB multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW oogenesis Inferred from sequence or structural similarity. Source: UniProtKB piRNA metabolic process Inferred from sequence or structural similarity. Source: UniProtKB positive regulation of translation Inferred from sequence or structural similarity. Source: UniProtKB spermatogenesis Inferred from sequence or structural similarity. Source: UniProtKB
Cellular component	P granule Inferred from sequence or structural similarity. Source: UniProtKB chromatoid body Inferred from sequence or structural similarity. Source: UniProtKB
Molecular function	piRNA binding Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8TC59-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q8TC59-2)

The sequence of this isoform differs from the canonical sequence as follows:
     887-922: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 973	973	Piwi-like protein 2		PRO_0000234569
Regions
	Domain	384 – 496	113	PAZ
	Domain	668 – 959	292	Piwi
Natural variations
	Alternative sequence	887 – 922	36	Missing in isoform 2.		VSP_036664
Experimental info
	Sequence conflict	18	1	Q → R in BAG61134. Ref.2
	Sequence conflict	581	1	I → T in BAF98721. Ref.2
	Sequence conflict	685	1	K → N in BAA91558. Ref.2
	Sequence conflict	720	1	Q → R in BAF98724. Ref.2
	Sequence conflict	887	1	V → G in BAF83727. Ref.2
	Sequence conflict	961	1	E → G in BAB55155. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2002. Version 1. Checksum: C44398136B144CA0	FASTA	973	109,849
	10 20 30 40 50 60 MDPFRPSFRG QSPIHPSQCQ AVRMPGCWPQ ASKPLDPALG RGAPAGRGHV FGKPEEPSTQ 70 80 90 100 110 120 RGPAQRESVG LVSMFRGLGI ETVSKTPLKR EMLPSGRGIL GRGLSANLVR KDREELSPTF 130 140 150 160 170 180 WDPKVLAAGD SKMAETSVGW SRTLGRGSSD ASLLPLGRAA GGISREVDKP PCTFSTPSRG 190 200 210 220 230 240 PPQLSSPPAL PQSPLHSPDR PLVLTVEHKE KELIVKQGSK GTPQSLGLNL VKIQCHNEAV 250 260 270 280 290 300 YQYHVTFSPN VECKSMRFGM LKDHQAVTGN VTAFDGSILY LPVKLQQVLE LKSQRKTDSA 310 320 330 340 350 360 EISIKIQMTK ILEPCSDLCI PFYNVVFRRV MKLLDMKLVG RNFYDPTSAM VLQQHRLQIW 370 380 390 400 410 420 PGYAASIRRT DGGLFLLADV SHKVIRNDCV LDVMHAIYQQ NKEHFQDECT KLLVGNIVIT 430 440 450 460 470 480 RYNNRTYRID DVDWNKTPKD SFTMSDGKEI TFLEYYSKNY GITVKEEDQP LLIHRPSERQ 490 500 510 520 530 540 DNHGMLLKGE ILLLPELSFM TGIPEKMKKD FRAMKDLAQQ INLSPKQHHS ALECLLQRIA 550 560 570 580 590 600 KNEAATNELM RWGLRLQKDV HKIEGRVLPM ERINLKNTSF ITSQELNWVK EVTRDPSILT 610 620 630 640 650 660 IPMHFWALFY PKRAMDQARE LVNMLEKIAG PIGMRMSPPA WVELKDDRIE TYVRTIQSTL 670 680 690 700 710 720 GAEGKIQMVV CIIMGPRDDL YGAIKKLCCV QSPVPSQVVN VRTIGQPTRL RSVAQKILLQ 730 740 750 760 770 780 INCKLGGELW GVDIPLKQLM VIGMDVYHDP SRGMRSVVGF VASINLTLTK WYSRVVFQMP 790 800 810 820 830 840 HQEIVDSLKL CLVGSLKKFY EVNHCLPEKI VVYRDGVSDG QLKTVANYEI PQLQKCFEAF 850 860 870 880 890 900 ENYQPKMVVF VVQKKISTNL YLAAPQNFVT PTPGTVVDHT ITSCEWVDFY LLAHHVRQGC 910 920 930 940 950 960 GIPTHYVCVL NTANLSPDHM QRLTFKLCHM YWNWPGTIRV PAPCKYAHKL AFLSGHILHH 970 EPAIQLCENL FFL
	Isoform 2. Checksum: 5888D266DD32416C	FASTA	937	105,760
	10 20 30 40 50 60 MDPFRPSFRG QSPIHPSQCQ AVRMPGCWPQ ASKPLDPALG RGAPAGRGHV FGKPEEPSTQ 70 80 90 100 110 120 RGPAQRESVG LVSMFRGLGI ETVSKTPLKR EMLPSGRGIL GRGLSANLVR KDREELSPTF 130 140 150 160 170 180 WDPKVLAAGD SKMAETSVGW SRTLGRGSSD ASLLPLGRAA GGISREVDKP PCTFSTPSRG 190 200 210 220 230 240 PPQLSSPPAL PQSPLHSPDR PLVLTVEHKE KELIVKQGSK GTPQSLGLNL VKIQCHNEAV 250 260 270 280 290 300 YQYHVTFSPN VECKSMRFGM LKDHQAVTGN VTAFDGSILY LPVKLQQVLE LKSQRKTDSA 310 320 330 340 350 360 EISIKIQMTK ILEPCSDLCI PFYNVVFRRV MKLLDMKLVG RNFYDPTSAM VLQQHRLQIW 370 380 390 400 410 420 PGYAASIRRT DGGLFLLADV SHKVIRNDCV LDVMHAIYQQ NKEHFQDECT KLLVGNIVIT 430 440 450 460 470 480 RYNNRTYRID DVDWNKTPKD SFTMSDGKEI TFLEYYSKNY GITVKEEDQP LLIHRPSERQ 490 500 510 520 530 540 DNHGMLLKGE ILLLPELSFM TGIPEKMKKD FRAMKDLAQQ INLSPKQHHS ALECLLQRIA 550 560 570 580 590 600 KNEAATNELM RWGLRLQKDV HKIEGRVLPM ERINLKNTSF ITSQELNWVK EVTRDPSILT 610 620 630 640 650 660 IPMHFWALFY PKRAMDQARE LVNMLEKIAG PIGMRMSPPA WVELKDDRIE TYVRTIQSTL 670 680 690 700 710 720 GAEGKIQMVV CIIMGPRDDL YGAIKKLCCV QSPVPSQVVN VRTIGQPTRL RSVAQKILLQ 730 740 750 760 770 780 INCKLGGELW GVDIPLKQLM VIGMDVYHDP SRGMRSVVGF VASINLTLTK WYSRVVFQMP 790 800 810 820 830 840 HQEIVDSLKL CLVGSLKKFY EVNHCLPEKI VVYRDGVSDG QLKTVANYEI PQLQKCFEAF 850 860 870 880 890 900 ENYQPKMVVF VVQKKISTNL YLAAPQNFVT PTPGTVVDHT ITSCEWLTFK LCHMYWNWPG 910 920 930 TIRVPAPCKY AHKLAFLSGH ILHHEPAIQL CENLFFL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of eight members of the Argonaute family in the human genome." Sasaki T., Shiohama A., Minoshima S., Shimizu N. Genomics 82:323-330(2003) [PubMed: 12906857] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Testis.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Testis.
[4]	"Stem-cell protein Piwil2 is widely expressed in tumors and inhibits apoptosis through activation of Stat3/Bcl-XL pathway." Lee J.H., Schutte D., Wulf G., Fuzesi L., Radzun H.-J., Schweyer S., Engel W., Nayernia K. Hum. Mol. Genet. 15:201-211(2006) [PubMed: 16377660] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB079367 mRNA. Translation: BAC81342.1. AK001213 mRNA. Translation: BAA91558.1. Different initiation. AK027497 mRNA. Translation: BAB55155.1. Sequence problems. AK291038 mRNA. Translation: BAF83727.1. AK292440 mRNA. Translation: BAF85129.1. AK299068 mRNA. Translation: BAG61134.1. AK315830 mRNA. Translation: BAF98721.1. AK315833 mRNA. Translation: BAF98724.1. BC025995 mRNA. Translation: AAH25995.1. BC111751 mRNA. Translation: AAI11752.1.
IPI	IPI00154664. IPI00923514.
RefSeq	NP_001129193.1. NP_060538.2.
UniGene	Hs.661109
3D structure databases
ModBase	Search...
Proteomic databases
PRIDE	Q8TC59.
Genome annotation databases
Ensembl	ENSG00000197181. Homo sapiens. [Contig view]
GeneID	55124.
KEGG	hsa:55124.
Organism-specific databases
GeneCards	GC08P022188.
H-InvDB	HIX0007369.
HGNC	HGNC:17644. PIWIL2.
MIM	610312. gene.
PharmGKB	PA38461.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q8TC59.
HOVERGEN	Q8TC59.
OMA	Q8TC59. ELWGVDI.
Gene expression databases
ArrayExpress	Q8TC59.
Bgee	Q8TC59.
CleanEx	HS_PIWIL2.
GermOnline	ENSG00000197181. Homo sapiens.
Family and domain databases
InterPro	IPR003100. PAZ. IPR003165. Piwi. [Graphical view]
Pfam	PF02170. PAZ. 1 hit. PF02171. Piwi. 1 hit. [Graphical view]
PROSITE	PS50821. PAZ. 1 hit. PS50822. PIWI. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	58776.
SOURCE	Search...

Entry information

Entry name

PIWL2_HUMAN

Accession

Primary (citable) accession number: Q8TC59
Secondary accession number(s): A8K4S3 , A8K8S5, B0AZN9, B0AZP2, B4DR22, Q96SW6, Q9NW28

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 16, 2006
Last sequence update:	June 1, 2002
Last modified:	June 16, 2009
This is version 49 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)