• Gene id: 54812

Gene Summary

• Gene Symbol: AFTPH   Gene   UCSC   Ensembl
• Aliases: Nbla10388
• Gene name: aftiphilin
• Alternate names: aftiphilin, aftiphilin protein,
• Gene location: 2p14 (64524304: 64593004)     Exons: 10     NC_000002.12

Protein Summary

• Protein general information: Q6ULP2  
  • Name: Aftiphilin
  • Length: 936  
  • Mass: 102113
• Sequence:

  MEPDIIRMYSSSPPPLDNGAEDDDDDEFGEFGGFSEVSPSGVGFVDFDTPDYTRPKEEFVPSNHFMPIHEFSENV
  DSLTSFKSIKNGNDKDITAELSAPVKGQSDVLLSTTSKEIISSEMLATSIDGMERPGNLNKVVEQRQNVGTLESF
  SPGDFRTNMNVVHQNKQLESCNGEKPPCLEILTNGFAVLETVNPQGTDDLDNVADSKGRKPLSTHSTEYNLDSVP
  SPAEEFADFATFSKKERIQLEEIECAVLNDREALTIRENNKINRVNELNSVKEVALGRSLDNKGDTDGEDQVCVS
  EISIVTNRGFSVEKQGLPTLQQDEFLQSGVQSKAWSLVDSADNSEAIRREQCKTEEKLDLLTSKCAHLCMDSVKT
  SDDEVGSPKEESRKFTNFQSPNIDPTEENDLDDSLSVKNGDSSNDFVTCNDINEDDFGDFGDFGSASGSTPPFVT
  GTQDSMSDATFEESSEHFPHFSEPGDDFGEFGDINAVSCQEETILTKSDLKQTSDNLSEECQLARKSSGTGTEPV
  AKLKNGQEGEIGHFDSVPNIQDDCNGFQDSDDFADFSSAGPSQVVDWNAFEDEQKDSCSWAAFGDQQATESHHRK
  EAWQSHRTDENIDTPGTPKTHSVPSATSKGAVASGHLQESATSVQTALLNRLERIFEACFPSILVPDAEEEVTSL
  KHLLETSTLPIKTREALPESGELLDVWTELQDIHDAHGLRYQWGGSHSNKKLLSSLGIDTRNILFTGNKKQPVIV
  PMYAAGLGMLEPTKEPLKPLSAAEKIASIGQTATMSPDMNTCTSDQFQESLPPVQFDWSSSGLTNPLDASGGSTL
  LNLDFFGPVDDSSSSSSTTIPGVDPELYELTTSKLEISTSSLKVTDAFARLMSTVEKTSTSTRKPKREEHLSEEA
  IKVIAGLPDLTFMHAKVLMFPATLTPSTSSQEKADG

• Structural information:
  • Interpro: IPR029205  
  • STRING: ENSP00000238855
• Other Databases: GeneCards:  AFTPH  Malacards:  AFTPH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0030121	AP-1 adaptor complex	IBA	cellular component
GO:0030276	clathrin binding	IBA	molecular function
GO:0032588	trans-Golgi network membrane	IBA	cellular component
GO:0046907	intracellular transport	IBA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0030276	clathrin binding	IDA	molecular function
GO:0030121	AP-1 adaptor complex	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray