• Gene id: 90780

Gene Summary

• Gene Symbol: PYGO2   Gene   UCSC   Ensembl
• Aliases: 1190004M21Rik
• Gene name: pygopus family PHD finger 2
• Alternate names: pygopus homolog 2, pygopus 2,
• Gene location: 1q21.3 (154961781: 154957025)     Exons: 3     NC_000001.11
• OMIM: 606903

SNPs

rs61758741

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

NC_000001.11   g.154959219T>C
NC_000001.10   g.154931695T>C
NM_138300.4   c.781A>G
NM_138300.3   c.781A>G
NP_612157.1   p.Lys261Glu|SEQ=[T/C]|GENE=PYGO2

rs61758740

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

NC_000001.11   g.154959577C>T
NC_000001.10   g.154932053C>T
NM_138300.4   c.423G>A
NM_138300.3   c.423G>A
NP_612157.1   p.Met141Ile|SEQ=[C/T]|GENE=PYGO2
LOC101928120   101928120

rs141722381

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

NC_000001.11   g.154959281T>A
NC_000001.10   g.154931757T>A
NM_138300.4   c.719A>T
NM_138300.3   c.719A>T
NP_612157.1   p.Asn240Ile|SEQ=[T/A]|GENE=PYGO2

Protein Summary

• Protein general information: Q9BRQ0  
  • Name: Pygopus homolog 2
  • Length: 406  
  • Mass: 41,244
• Sequence:

  MAASAPPPPDKLEGGGGPAPPPAPPSTGRKQGKAGLQMKSPEKKRRKSNTQGPAYSHLTEFAPPPTPMVDHLVAS
  NPFEDDFGAPKVGVAAPPFLGSPVPFGGFRVQGGMAGQVPPGYSTGGGGGPQPLRRQPPPFPPNPMGPAFNMPPQ
  GPGYPPPGNMNFPSQPFNQPLGQNFSPPSGQMMPGPVGGFGPMISPTMGQPPRAELGPPSLSQRFAQPGAPFGPS
  PLQRPGQGLPSLPPNTSPFPGPDPGFPGPGGEDGGKPLNPPASTAFPQEPHSGSPAAAVNGNQPSFPPNSSGRGG
  GTPDANSLAPPGKAGGGSGPQPPPGLVYPCGACRSEVNDDQDAILCEASCQKWFHRECTGMTESAYGLLTTEASA
  VWACDLCLKTKEIQSVYIREGMGQLVAANDG

• Structural information:
  • Interpro: IPR019786  IPR011011  IPR001965  IPR019787  IPR013083  
  • Prosite: PS01359 PS50016
  • PDB: 2XB1 4UP0 4UP5
  • PDBsum: 2XB1 4UP0 4UP5
  • STRING: ENSP00000357442
• Other Databases: GeneCards:  PYGO2  Malacards:  PYGO2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0002088	lens development in camera-type eye	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0007289	spermatid nucleus differentiation	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0009791	post-embryonic development	IEA	biological process
GO:0030879	mammary gland development	IEA	biological process
GO:0033599	regulation of mammary gland epithelial cell proliferation	IEA	biological process
GO:0035034	histone acetyltransferase regulator activity	IEA	molecular function
GO:0035065	regulation of histone acetylation	IEA	biological process
GO:0035563	positive regulation of chromatin binding	IEA	biological process
GO:0042393	histone binding	IEA	molecular function
GO:0048589	developmental growth	IEA	biological process
GO:0051569	regulation of histone H3-K4 methylation	IEA	biological process
GO:0060021	palate development	IEA	biological process
GO:0060070	canonical Wnt signaling pathway	IEA	biological process
GO:1904837	beta-catenin-TCF complex assembly	TAS	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0002088	lens development in camera-type eye	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0007286	spermatid development	IEA	biological process
GO:0007289	spermatid nucleus differentiation	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0009791	post-embryonic development	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0030879	mammary gland development	IEA	biological process
GO:0033599	regulation of mammary gland epithelial cell proliferation	IEA	biological process
GO:0035034	histone acetyltransferase regulator activity	IEA	molecular function
GO:0035065	regulation of histone acetylation	IEA	biological process
GO:0035563	positive regulation of chromatin binding	IEA	biological process
GO:0042393	histone binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0048589	developmental growth	IEA	biological process
GO:0051569	regulation of histone H3-K4 methylation	IEA	biological process
GO:0060021	palate development	IEA	biological process
GO:0060070	canonical Wnt signaling pathway	IEA	biological process
GO:1904837	beta-catenin-TCF complex assembly	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:1904837	beta-catenin-TCF complex assembly	TAS	biological process

Diseases

Associated diseases	References
Oligozoospermia	MIK: 26345837
Azoospermia	MIK: 26345837
Oligospermia	MIK: 23732668
Azoospermia	MIK: 26345837
Male infertility	MIK: 26345837

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23732668	Idiopathic oligospermia and azoospermia	rs61758740 (M141I), rs141722381 (N261I) , rs61758741 (K261E)		272 (77 fertile and 195 idiopathic oligospermic or azoospermic men)	Male infertility	Pygo2
26345837	Idiopathic oligospermia and azoospermia, resulting in male infertility	rs61758740 (M141I), rs141722381 (N240I),rs61758741 (K261E)		272 (77 men with normal fertility and 195 men with idiopathic oligospermia or azoospermia)	Male infertility