• Gene id: 5535

Gene Summary

• Gene Symbol: PPP3R2   Gene   UCSC   Ensembl
• Aliases: PPP3RL
• Gene name: protein phosphatase 3 regulatory subunit B, beta
• Alternate names: calcineurin subunit B type 2, CBLP, CNBII, calcineurin B, type II (19kDa), calcineurin B-like protein, calcineurin BII, protein phosphatase 2B regulatory subunit 2, protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD), beta isoform (calcineurin B, ty,
• Gene location: 9q31.1 (47522932: 47623275)     Exons: 26     NC_000017.11
• OMIM: 613821

Protein Summary

• Protein general information: Q96LZ3  
  • Name: Calcineurin subunit B type 2 (Calcineurin B like protein) (CBLP) (Calcineurin BII) (CNBII) (PPP3R1 like) (Protein phosphatase 2B regulatory subunit 2) (Protein phosphatase 3 regulatory subunit B beta isoform)
  • Length: 170  
  • Mass: 19533
  • Tissue specificity: Testis-specific. {ECO
• Sequence:

  MGNEASYPAEMCSHFDNDEIKRLGRRFKKLDLDKSGSLSVEEFMSLPELRHNPLVRRVIDVFDTDGDGEVDFKEF
  ILGTSQFSVKGDEEQKLRFAFSIYDMDKDGYISNGELFQVLKMMVGNNLTDWQLQQLVDKTIIILDKDGDGKISF
  EEFSAVVRDLEIHKKLVLIV

• Structural information:
  • Protein Domains: (18..5-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (50..8-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (87..12-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0044-)
  • Interpro: IPR011992  IPR018247  IPR002048  
  • Prosite: PS00018 PS50222
  • CDD: cd00051
  • STRING: ENSP00000363939
• Other Databases: GeneCards:  PPP3R2  Malacards:  PPP3R2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa04010	MAPK signaling pathway
hsa05166	Human T-cell leukemia virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa04020	Calcium signaling pathway
hsa04360	Axon guidance
hsa05170	Human immunodeficiency virus 1 infection
hsa04310	Wnt signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa05152	Tuberculosis
hsa04921	Oxytocin signaling pathway
hsa04218	Cellular senescence
hsa04724	Glutamatergic synapse
hsa04380	Osteoclast differentiation
hsa04114	Oocyte meiosis
hsa04922	Glucagon signaling pathway
hsa04650	Natural killer cell mediated cytotoxicity
hsa04625	C-type lectin receptor signaling pathway
hsa04660	T cell receptor signaling pathway
hsa04659	Th17 cell differentiation
hsa04662	B cell receptor signaling pathway
hsa05235	PD-L1 expression and PD-1 checkpoint pathway in cancer
hsa04658	Th1 and Th2 cell differentiation
hsa04720	Long-term potentiation
hsa05031	Amphetamine addiction
hsa04924	Renin secretion
hsa05014	Amyotrophic lateral sclerosis
hsa04370	VEGF signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray