Gene Gene information from NCBI Gene database.
Entrez ID 55124
Gene name Piwi like RNA-mediated gene silencing 2
Gene symbol PIWIL2
Synonyms (NCBI Gene)
CT80HILIPIWIL1Lmili
Chromosome 8
Chromosome location 8p21.3
Summary 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]
miRNA miRNA information provided by mirtarbase database.
855
miRTarBase ID miRNA Experiments Reference
MIRT608375 hsa-miR-106a-5p HITS-CLIP 23313552
MIRT608374 hsa-miR-106b-5p HITS-CLIP 23313552
MIRT608373 hsa-miR-17-5p HITS-CLIP 23313552
MIRT608372 hsa-miR-20a-5p HITS-CLIP 23313552
MIRT608371 hsa-miR-20b-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
61
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding IEA
GO:0003729 Function MRNA binding IEA
GO:0004518 Function Nuclease activity IEA
GO:0004519 Function Endonuclease activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610312 17644 ENSG00000197181
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TC59
Protein name Piwi-like protein 2 (EC 3.1.26.-) (Cancer/testis antigen 80) (CT80)
Protein function Endoribonuclease that plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Plays an essential role in meiotic differenti
PDB 3O7X , 3QIR , 7YFX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08699 ArgoL1 338 387 Argonaute linker 1 domain Domain
PF02170 PAZ 389 524 PAZ domain Domain
PF02171 Piwi 668 959 Piwi domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in adult testis and in most tumors. {ECO:0000269|PubMed:16377660}.
Sequence
MDPFRPSFRGQSPIHPSQCQAVRMPGCWPQASKPLDPALGRGAPAGRGHVFGKPEEPSTQ
RGPAQRESVGLVSMFRGLGIETVSKTPLKREMLPSGRGILGRGLSANLVRKDREELSPTF
WDPKVLAAGDSKMAETSVGWSRTLGRGSSDASLLPLGRAAGGISREVDKPPCTFSTPSRG
PPQLSSPPALPQSPLHSPDRPLVLTVEHKEKELIVKQGSKGTPQSLGLNLVKIQCHNEAV
YQYHVTFSPNVECKSMRFGMLKDHQAVTGNVTAFDGSILYLPVKLQQVLELKSQRKTDSA
EISIKIQMTKILEPCSDLCIPFYNVVFRRVMKLLDMKLVGRNFYDPTSAMVLQQHRLQIW
PGYAASIRRTDGGLFLLADVSHKVIRN
DCVLDVMHAIYQQNKEHFQDECTKLLVGNIVIT
RYNNRTYRIDDVDWNKTPKDSFTMSDGKEITFLEYYSKNYGITVKEEDQPLLIHRPSERQ
DNHGMLLKGEILLLPELSFMTGIPEKMKKDFRAMKDLAQQINLS
PKQHHSALECLLQRIA
KNEAATNELMRWGLRLQKDVHKIEGRVLPMERINLKNTSFITSQELNWVKEVTRDPSILT
IPMHFWALFYPKRAMDQARELVNMLEKIAGPIGMRMSPPAWVELKDDRIETYVRTIQSTL
GAEGKIQMVVCIIMGPRDDLYGAIKKLCCVQSPVPSQVVNVRTIGQPTRLRSVAQKILLQ
INCKLGGELWGVDIPLKQLMVIGMDVYHDPSRGMRSVVGFVASINLTLTKWYSRVVFQMP
HQEIVDSLKLCLVGSLKKFYEVNHCLPEKIVVYRDGVSDGQLKTVANYEIPQLQKCFEAF
ENYQPKMVVFVVQKKISTNLYLAAPQNFVTPTPGTVVDHTITSCEWVDFYLLAHHVRQGC
GIPTHYVCVLNTANLSPDHMQRLTFKLCHMYWNWPGTIRVPAPCKYAHKLAFLSGHILH
H
EPAIQLCENLFFL
Sequence length 973
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Male infertility Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 29911897
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 30782709
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 27893851 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 19683485, 25998509
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 20460541, 20490325, 23992744, 26847393, 27293058, 29599319
★☆☆☆☆
Found in Text Mining only
Breast Diseases Breast Diseases BEFREE 29599319
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 20490325 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 22303479, 25113562, 29555935, 34738477 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 20460541
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 27894076 Associate
★☆☆☆☆
Found in Text Mining only