• Gene id: 27315

Gene Summary

• Gene Symbol: PGAP2   Gene   UCSC   Ensembl
• Aliases: CWH43-N, FRAG1, HPMRS3, MRT17, MRT21
• Gene name: post-GPI attachment to proteins 2
• Alternate names: post-GPI attachment to proteins factor 2, FGF receptor activating protein 1, cell wall biogenesis 43 N-terminal homolog, mental retardation, non-syndromic, autosomal recessive, 17, mental retardation, non-syndromic, autosomal recessive, 21,
• Gene location: 11p15.4 (3797723: 3826370)     Exons: 15     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Mutations in this gene are associated with an autosomal recessive syndrome characterized by hyperphosphatasia and intel

Protein Summary

• Protein general information: Q9UHJ9  
  • Name: Post GPI attachment to proteins factor 2 (FGF receptor activating protein 1)
  • Length: 254  
  • Mass: 29400
  • Tissue specificity: Ubiquitously expressed, with highest levels in testis and pancreas. {ECO
• Sequence:

  MYQVPLPLDRDGTLVRLRFTMVALVTVCCPLVAFLFCILWSLLFHFKETTATHCGVPNYLPSVSSAIGGEVPQRY
  VWRFCIGLHSAPRFLVAFAYWNHYLSCTSPCSCYRPLCRLNFGLNVVENLALLVLTYVSSSEDFTIHENAFIVFI
  ASSLGHMLLTCILWRLTKKHTVSQEDRKSYSWKQRLFIINFISFFSALAVYFRHNMYCEAGVYTIFAILEYTVVL
  TNMAFHMTAWWDFGNKELLITSQPEEKRF

• Structural information:
  • Interpro: IPR019402  IPR039545  
  • STRING: ENSP00000278243
• Other Databases: GeneCards:  PGAP2  Malacards:  PGAP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006506	GPI anchor biosynthetic process	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0006506	GPI anchor biosynthetic process	IMP	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0000139	Golgi membrane	ISS	cellular component
GO:0006506	GPI anchor biosynthetic process	ISS	biological process
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component

Diseases

Associated diseases	References
Inherited glycosylphosphatidylinositol deficiencies	KEGG:H01489
Hyperphosphatasia with mental retardation syndrome	KEGG:H01488
Inherited glycosylphosphatidylinositol deficiencies	KEGG:H01489
Hyperphosphatasia with mental retardation syndrome	KEGG:H01488
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R