• Gene id: 143689

Gene Summary

• Gene Symbol: PIWIL4   Gene   UCSC   Ensembl
• Aliases: HIWI2, MIWI2
• Gene name: piwi like RNA-mediated gene silencing 4
• Alternate names: piwi-like protein 4, piwi-like 4, testis tissue sperm-binding protein Li 85P,
• Gene location: 11q21 (94567307: 94621420)     Exons: 20     NC_000011.10
• Gene summary(Entrez): PIWIL4 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: 610315

SNPs

rs508485

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94621313C>T
NC_000011.9   g.94354479C>T
NM_152431.3   c.*321C>T
NM_152431.2   c.*321C>T|SEQ=[C/T]|GENE=PIWIL4
LOC105369438   105369438

rs7110167

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94587071T>C
NC_000011.9   g.94320237T>C
NM_152431.3   c.738T>C
NM_152431.2   c.738T>C|SEQ=[T/C]|GENE=PIWIL4
LOC105369438   105369438

rs57607909

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94593599G>C
NC_000011.9   g.94326765G>C
NM_152431.3   c.1108G>C
NM_152431.2   c.1108G>C
NP_689644.2   p.Ala370Pro|SEQ=[G/C]|GENE=PIWIL4
LOC105369438   105369438

rs593690

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.94604054C>A
NC_000011.10   g.94604054C>T
NC_000011.9   g.94337220C>A
NC_000011.9   g.94337220C>T
NM_152431.3   c.1636C>A
NM_152431.3   c.1636C>T
NM_152431.2   c.1636C>A
NM_152431.2   c.1636C>T
NP_689644.2   p.Leu546Met|SEQ=[C/A/T]|GENE=PIWIL4
L  

Protein Summary

• Protein general information: Q7Z3Z4  
  • Name: Piwi like protein 4
  • Length: 852  
  • Mass: 96,589
• Sequence:

  MSGRARVKARGIARSPSATEVGRIQASPLPRSVDLSNNEASSSNGFLGTSRISTNDKYGISSGDAGSTFMERGVK
  NKQDFMDLSICTREKLAHVRNCKTGSSGIPVKLVTNLFNLDFPQDWQLYQYHVTYIPDLASRRLRIALLYSHSEL
  SNKAKAFDGAILFLSQKLEEKVTELSSETQRGETIKMTITLKRELPSSSPVCIQVFNIIFRKILKKLSMYQIGRN
  FYNPSEPMEIPQHKLSLWPGFAISVSYFERKLLFSADVSYKVLRNETVLEFMTALCQRTGLSCFTQTCEKQLIGL
  IVLTRYNNRTYSIDDIDWSVKPTHTFQKRDGTEITYVDYYKQQYDITVSDLNQPMLVSLLKKKRNDNSEAQLAHL
  IPELCFLTGLTDQATSDFQLMKAVAEKTRLSPSGRQQRLARLVDNIQRNTNARFELETWGLHFGSQISLTGRIVP
  SEKILMQDHICQPVSAADWSKDIRTCKILNAQSLNTWLILCSDRTEYVAESFLNCLRRVAGSMGFNVDYPKIIKV
  QENPAAFVRAIQQYVDPDVQLVMCILPSNQKTYYDSIKKYLSSDCPVPSQCVLARTLNKQGMMMSIATKIAMQMT
  CKLGGELWAVEIPLKSLMVVGIDVCKDALSKDVMVVGCVASVNPRITRWFSRCILQRTMTDVADCLKVFMTGALN
  KWYKYNHDLPARIIVYRAGVGDGQLKTLIEYEVPQLLSSVAESSSNTSSRLSVIVVRKKCMPRFFTEMNRTVQNP
  PLGTVVDSEATRNEWYDFYLISQVACRGTVSPTYYNVIYDDNGLKPDHMQRLTFKLCHLYYNWPGIVSVPAPCQY
  AHKLTFLVAQSIHKEPSLELANHLFYL

• Structural information:
  • Protein Domains: PAZ. (268-384)
    Piwi. (546-838)
  • Interpro: IPR003100  IPR036085  IPR003165  IPR012337  IPR036397  
  • Prosite: PS50821 PS50822
  • STRING: ENSP00000299001
• Other Databases: GeneCards:  PIWIL4  Malacards:  PIWIL4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0006417	regulation of translation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0031047	gene silencing by RNA	ISS	biological process
GO:0034584	piRNA binding	ISS	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:0051321	meiotic cell cycle	IEA	biological process
GO:0071547	piP-body	ISS	cellular component
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006417	regulation of translation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0031047	gene silencing by RNA	ISS	biological process
GO:0031047	gene silencing by RNA	IEA	biological process
GO:0034584	piRNA binding	ISS	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:0051321	meiotic cell cycle	IEA	biological process
GO:0071547	piP-body	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0007283	spermatogenesis	ISS	biological process
GO:0031047	gene silencing by RNA	ISS	biological process
GO:0034584	piRNA binding	ISS	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:0071547	piP-body	ISS	cellular component

Diseases

Associated diseases	References
Cancer (lung)	GAD: 20721975
Attention deficit hyperactivity disorder (ADHD)	GAD: 18846501
Spermatogenesis defects	MIK: 20940137
Oligozoospermia	MIK: 20940137
Azoospermia	MIK: 20940137
Cryptorchidism	MIK: 25791297
Germ cell maturation arrest	MIK: 24969058
Cryptorchidism	MIK: 22223142
Male infertility	MIK: 25791297
Germ cell maturation arrest	MIK: 24969058
Non-obstructive azoospermia	MIK: 29317647
Spermatogenic failure	MIK: 20940137
Azoospermia	MIK: 20940137
Oligozoospermia	MIK: 20940137

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25791297	Cryptorchidism, Male infertility				Male infertility	GTSF1 L1 and PIWIL4
24969058	Germ cell maturation arrest	rs7110167 C/T, exon 7-synonimous; rs57607909 G/C, exon 9-missense; rs593690 T/C, exon 13-synonimous, and rs508485 C/T, 3’UTR	Caucasi an	196 (79 nonobstructive infertile men (patients) with azoospermia, 61 severe oligozoospermia, 56 men diagnosed with obstructive azoospermia)	Male infertility
22223142	Cryptorchidism			22 (18 cryptorchid, 4 control testes)	Male infertility	PIWIL4
20940137	Spermatogenic failure, azoospermia, oligozoospermia	HIWI2 (rs508485), HIWI3 non-synonymous (rs11703684)		958 (490 patients with idiopathic azoospermia or oligozoospermia, 468 fertile controls)	Male infertility	PIWIL4/HIWI2
29317647	Idiopathic non-obstructive azoospermia	HIWI2 rs508485 (T>C), HIWI3 rs11703684 (C>T), TDRD5 rs508485TC		426 (226 non-obstructive azoospermia patients, 200 fertile males)	Male infertility
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray