• Gene id: 253725

Gene Summary

• Gene Symbol: WASHC2C   Gene   UCSC   Ensembl
• Aliases: FAM21A, FAM21C, VPEF
• Gene name: WASH complex subunit 2C
• Alternate names: WASH complex subunit 2C, WASH complex subunit FAM21C, family with sequence similarity 21 member C, vaccinia virus penetration factor,
• Gene location: 10q11.22 (45727042: 45792963)     Exons: 38     NC_000010.11

Protein Summary

• Protein general information: Q9Y4E1  
  • Name: WASH complex subunit 2C (Vaccinia virus penetration factor) (VPEF)
  • Length: 1320  
  • Mass: 144911
• Sequence:

  MMNRTTPDQELVPASEPVWERPWSVEEIRRSSQSWSLAADAGLLQFLQEFSQQTISRTHEIKKQVDGLIRETKAT
  DCRLHNVFNDFLMLSNTQFIENRVYDEEVEEPVLKAEAEKTEQEKTREQKEVDLIPKVQEAVNYGLQVLDSAFEQ
  LDIKAGNSDSEEDDANGRVELILEPKDLYIDRPLPYLIGSKLFMEQEDVGLGELSSEEGSVGSDRGSIVDTEEEK
  EEEESDEDFAHHSDNEQNQHTTQMSDEEEDDDGCDLFADSEKEEEDIEDIEENTRPKRSRPTSFADELAARIKGD
  AMGRVDEEPTTLPSGEAKPRKTLKEKKERRTPSDDEEDNLFAPPKLTDEDFSPFGSGGGLFSGGKGLFDDEDEES
  DLFTEASQDRQAGASVKEESSSSKPGKKIPAGAVSVFLGDTDVFGAASVPSLKEPQKPEQPTPRKSPYGPPPTGL
  FDDDDGDDDDDFFSAPHSKPSKTRKVQSTADIFGDEEGDLFKEKAVASPEATVSQTDENKARAEKKVTLSYSKNL
  KPSSETKTQKGLFSDEEDSEDLFSSQSASNLKGASLLPGKLPTSVSLFDDEDEEDNLFGGTAAKKQTLSLQAQRE
  EKAKASELSKKKASALLFSSDEEDQWNIPASQTHLASDSRSKGEPRDSGTLQSQEAKAVKKTSLFEEDKEDDLFA
  IAKDSQKKTQRVSLLFEDDVDSGGSLFGSPPTSVPPATKKKETVSEAPPLLFSDEEEKEAQLGVKSVDKKVESAK
  ESLKFGRTDVAESEKEGLLTRSAQETVKHSDLFSSSSPWDKGTKPRTKTVLSLFDEEEDKMEDQNIIQAPQKEVG
  KGCDPDAHPKSTGVFQDEELLFSHKLQKDNDPDVDLFAGTKKTKLLEPSVGSLFGDDEDDDLFSSAKSQPLVQEK
  KRVVKKDHSVNSFKNQKHPESIQGSKEKGIWKPETPQANLAINPAALLPTAASQISEVKPVLPELAFPSSEHRRS
  HGLESVPVLPGSGEAGVSFDLPAQADTLHSANKSRVKMRGKRRPQTRAARRLAAQESSEAEDMSVPRGPIAQWAD
  GAISPNGHRPQLRAASGEDSTEEALAAAAAPWEGGPVPGVDTSPFAKSLGHSRGEADLFDSGDIFSTGTGSQSVE
  RTKPKAKIAENPANPPVGGKAKSPMFPALGEASSDDDLFQSAKPKPAKKTNPFPLLEDEDDLFTDQKVKKNETKS
  SSQQDVILTTQDIFEDDIFATEAIKPSQKTREKEKTLESNLFDDNIDIFADLTVKPKEKSKKKVEAKSIFDDDMD
  DIFSTGIQAKTTKPKSRSAQAAPEPRFEHKVSNIFDDPLNAFGGQ

• Structural information:
  • Interpro: IPR029341  
  • STRING: ENSP00000363482
• Other Databases: GeneCards:  WASHC2C  Malacards:  WASHC2C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1905394	retromer complex binding	IMP	molecular function
GO:1900024	regulation of substrate adhesion-dependent cell spreading	IDA	biological process
GO:0010314	phosphatidylinositol-5-phosphate binding	IDA	molecular function
GO:0070273	phosphatidylinositol-4-phosphate binding	IDA	molecular function
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IDA	molecular function
GO:0071203	WASH complex	IDA	cellular component
GO:0032266	phosphatidylinositol-3-phosphate binding	IDA	molecular function
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA	molecular function
GO:0043325	phosphatidylinositol-3,4-bisphosphate binding	IDA	molecular function
GO:0005547	phosphatidylinositol-3,4,5-trisphosphate binding	IDA	molecular function
GO:2000813	negative regulation of barbed-end actin filament capping	IDA	biological process
GO:0005769	early endosome	IDA	cellular component
GO:1990126	retrograde transport, endosome to plasma membrane	IMP	biological process
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:0042147	retrograde transport, endosome to Golgi	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0036010	protein localization to endosome	IMP	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005768	endosome	IDA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:1905394	retromer complex binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

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