• Gene id: 84249

Gene Summary

• Gene Symbol: PSD2   Gene   UCSC   Ensembl
• Aliases: EFA6C
• Gene name: pleckstrin and Sec7 domain containing 2
• Alternate names: PH and SEC7 domain-containing protein 2, exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 C, exchange factor for ARF6 C, pleckstrin homology and SEC7 domain-containing protein 2,
• Gene location: 5q31.2 (139711262: 139844465)     Exons: 19     NC_000005.10

Protein Summary

• Protein general information: Q9BQI7  
  • Name: PH and SEC7 domain containing protein 2 (Exchange factor for ADP ribosylation factor guanine nucleotide factor 6 C) (Exchange factor for ARF6 C) (Pleckstrin homology and SEC7 domain containing protein 2)
  • Length: 771  
  • Mass: 84660
• Sequence:

  MEEDKLLSAVPEEGDATRDPGPEPEEEPGVRNGMASEGLNSSLCSPGHERRGTPADTEEPTKDPDVAFHGLSLGL
  SLTNGLALGPDLNILEDSAESRPWRAGVLAEGDNASRSLYPDAEDPQLGLDGPGEPDVRDGFSATFEKILESELL
  RGTQYSSLDSLDGLSLTDESDSCVSFEAPLTPLIQQRARDSPEPGAGLGIGDMAFEGDMGAAGGDGELGSPLRRS
  ISSSRSENVLSRLSLMAMPNGFHEDGPQGPGGDEDDDEEDTDKLLNSASDPSLKDGLSDSDSELSSSEGLEPGSA
  DPLANGCQGVSEAAHRLARRLYHLEGFQRCDVARQLGKNNEFSRLVAGEYLSFFDFSGLTLDGALRTFLKAFPLM
  GETQERERVLTHFSRRYCQCNPDDSTSEDGIHTLTCALMLLNTDLHGHNIGKKMSCQQFIANLDQLNDGQDFAKD
  LLKTLYNSIKNEKLEWAIDEDELRKSLSELVDDKFGTGTKKVTRILDGGNPFLDVPQALSATTYKHGVLTRKTHA
  DMDGKRTPRGRRGWKKFYAVLKGTILYLQKDEYRPDKALSEGDLKNAIRVHHALATRASDYSKKSNVLKLKTADW
  RVFLFQAPSKEEMLSWILRINLVAAIFSAPAFPAAVSSMKKFCRPLLPSCTTRLCQEEQLRSHENKLRQLTAELA
  EHRCHPVERGIKSKEAEEYRLKEHYLTFEKSRYETYIHLLAMKIKVGSDDLERIEARLATLEGDDPSLRKTHSSP
  ALSQGHVTGSKTTKDATGPDT

• Structural information:
  • Protein Domains: (260..46-)
    (/note="SEC7-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00189-)
    (512..62-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR011993  IPR041681  IPR001605  IPR001849  IPR023394   IPR000904  IPR035999  
  • Prosite: PS50003 PS50190
  • CDD: cd00171
  • STRING: ENSP00000274710
• Other Databases: GeneCards:  PSD2  Malacards:  PSD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032587	ruffle membrane	ISS	cellular component
GO:0032154	cleavage furrow	ISS	cellular component
GO:0005086	ARF guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0032012	regulation of ARF protein signal transduction	IEA	biological process
GO:0005543	phospholipid binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0032154	cleavage furrow	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0032154	cleavage furrow	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq