• Gene id: 150368

Gene Summary

• Gene Symbol: PHETA2   Gene   UCSC   Ensembl
• Aliases: FAM109B, IPIP27B, Ses2
• Gene name: PH domain containing endocytic trafficking adaptor 2
• Alternate names: sesquipedalian-2, 27 kDa inositol polyphosphate phosphatase interacting protein B, family with sequence similarity 109 member B, inositol polyphosphate phosphatase-interacting protein B,
• Gene location: 22q13.2 (179678645: 179731640)     Exons: 20     NC_000005.10
• OMIM: 614240

Protein Summary

• Protein general information: Q6ICB4  
  • Name: Sesquipedalian 2 (Ses2) (27 kDa inositol polyphosphate phosphatase interacting protein B) (IPIP27B) (PH domain containing endocytic trafficking adaptor 2)
  • Length: 259  
  • Mass: 28338
• Sequence:

  MKLNERSVAHYALSDSPADHMGFLRTWGGPGTPPTPSGTGRRCWFVLKGNLLFSFESREGRAPLSLVVLEGCTVE
  LAEAPVPEEFAFAICFDAPGVRPHLLAAEGPAAQEAWVKVLSRASFGYMRLVVRELESQLQDARQSLALQRRSSW
  KSVASRCKPQAPNHRAAGLENGHCLSKDSSPVGLVEEAGSRSAGWGLAEWELQGPASLLLGKGQSPVSPETSCFS
  TLHDWYGQEIVELRQCWQKRAQGSHSKCEEQDRP

• Structural information:
  • Protein Domains: (17..12-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR011993  IPR001849  
  • Prosite: PS50003
  • STRING: ENSP00000312753
• Other Databases: GeneCards:  PHETA2  Malacards:  PHETA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005769	early endosome	IBA	cellular component
GO:0042147	retrograde transport, endosome to Golgi	IBA	biological process
GO:0001881	receptor recycling	IBA	biological process
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0007032	endosome organization	IBA	biological process
GO:0055037	recycling endosome	IBA	cellular component
GO:0042803	protein homodimerization activity	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:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0055037	recycling endosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0030136	clathrin-coated vesicle	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0055037	recycling endosome	IDA	cellular component
GO:0007032	endosome organization	IMP	biological process
GO:0001881	receptor recycling	IMP	biological process
GO:0042147	retrograde transport, endosome to Golgi	IMP	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)