• Gene id: 196463

Gene Summary

• Gene Symbol: PLBD2   Gene   UCSC   Ensembl
• Aliases: P76
• Gene name: phospholipase B domain containing 2
• Alternate names: putative phospholipase B-like 2, 76 kDa protein, LAMA-like protein 2, PLB homolog 2, lamina ancestor homolog 2, mannose-6-phosphate protein associated protein p76, phospholipase B domain-containing protein 2, phospholipase B-like 2 32 kDa form, phospholipase B-li,
• Gene location: 12q24.13 (52297168: 52325926)     Exons: 6     NC_000019.10

Protein Summary

• Protein general information: Q8NHP8  
  • Name: Putative phospholipase B like 2 (EC 3.1.1. ) (76 kDa protein) (p76) (LAMA like protein 2) (Lamina ancestor homolog 2) (Phospholipase B domain containing protein 2) [Cleaved into: Putative phospholipase B like 2 32 kDa form; Putative phospholipase B like 2
  • Length: 589  
  • Mass: 65472
  • Tissue specificity: Ubiquitously expressed, with highest levels in heart, brain and liver. {ECO
• Sequence:

  MVGQMYCYPGSHLARALTRALALALVLALLVGPFLSGLAGAIPAPGGRWARDGQVPPASRSRSVLLDVSAGQLLM
  VDGRHPDAVAWANLTNAIRETGWAFLELGTSGQYNDSLQAYAAGVVEAAVSEELIYMHWMNTVVNYCGPFEYEVG
  YCERLKSFLEANLEWMQEEMESNPDSPYWHQVRLTLLQLKGLEDSYEGRVSFPAGKFTIKPLGFLLLQLSGDLED
  LELALNKTKIKPSLGSGSCSALIKLLPGQSDLLVAHNTWNNYQHMLRVIKKYWLQFREGPWGDYPLVPGNKLVFS
  SYPGTIFSCDDFYILGSGLVTLETTIGNKNPALWKYVRPRGCVLEWVRNIVANRLASDGATWADIFKRFNSGTYN
  NQWMIVDYKAFIPGGPSPGSRVLTILEQIPGMVVVADKTSELYQKTYWASYNIPSFETVFNASGLQALVAQYGDW
  FSYDGSPRAQIFRRNQSLVQDMDSMVRLMRYNDFLHDPLSLCKACNPQPNGENAISARSDLNPANGSYPFQALRQ
  RSHGGIDVKVTSMSLARILSLLAASGPTWDQVPPFQWSTSPFSGLLHMGQPDLWKFAPVKVSWD

• Structural information:
  • Interpro: IPR007000  IPR043040  IPR043041  IPR043042  
  • STRING: ENSP00000280800
• Other Databases: GeneCards:  PLBD2  Malacards:  PLBD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004620	phospholipase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016042	lipid catabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0043202	lysosomal lumen	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R