• Gene id: 126006

Gene Summary

• Gene Symbol: PCP2   Gene   UCSC   Ensembl
• Aliases: GPSM4
• Gene name: Purkinje cell protein 2
• Alternate names: Purkinje cell protein 2 homolog, CTD-3214H19.6, Purkinje cell-specific protein 2, Purkinje cell-specific protein L7,
• Gene location: 19p13.2 (7637025: 7631613)     Exons: 6     NC_000019.10

Protein Summary

• Protein general information: Q8IVA1  
  • Name: Purkinje cell protein 2 homolog
  • Length: 136  
  • Mass: 14547
• Sequence:

  MMDQEEKTEEGSGPCAEAGSPDQEGFFNLLSHVQGDRMEGQRCSLQAGPGQTTKSQSDPTPEMDSLMDMLASTQG
  RRMDDQRVTVSSLPGFQPVGSKDGAQKRAGTLSPQPLLTPQDPTALGFRRNSSPQPPTQAP

• Structural information:
  • Protein Domains: (23..4-)
    (/note="GoLoco-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00097-)
    (63..8-)
    (/note="GoLoco-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00097"-)
  • Interpro: IPR003109  IPR042168  IPR011990  
  • Prosite: PS50877
  • STRING: ENSP00000310585
• Other Databases: GeneCards:  PCP2  Malacards:  PCP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005085	guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0030695	GTPase regulator activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0050790	regulation of catalytic activity	IEA	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)