• Gene id: 118461

Gene Summary

• Gene Symbol: C10orf71   Gene   UCSC   Ensembl
• Aliases: CEFIP
• Gene name: chromosome 10 open reading frame 71
• Alternate names: cardiac-enriched FHL2-interacting protein, cardiac enriched FHL2-interacting protein, uncharacterized protein C10orf71,
• Gene location: 10q11.23 (49297008: 49330144)     Exons: 5     NC_000010.11
• OMIM: 607425

Protein Summary

• Protein general information: Q711Q0  
  • Name: Cardiac enriched FHL2 interacting protein
  • Length: 1435  
  • Mass: 156477
  • Tissue specificity: Expressed in the heart and skeletal muscle. {ECO
• Sequence:

  MMQGNKKCTDAFSDSSSIGSVLDDADREVSSLTDRAFRSLCISEDTSFHDSYLAVSPDITRQVFGTFHQRTVGHT
  QRKSGIWSQLPSQGTEHSGWAATFQQLPKYVQGEEKYPKTSPPPTPVQRRLEVPVSGLRSSNKPVSKVSTLIKSF
  DRTESQRCESRPTASKPPALKNPPKFAPLPENSVNFCFDSAFLTVRRVPAEVSNTHQNSYQPGRKHGEQESSKNP
  EMACHGSSSFLPAANDTATLCESKFPSPHHKPVTGEPGRGKGTFLHSENSAFESWNAHQPKLLERKDTAGTVPES
  KAPKHYGDTTLLREPCPPERTVSPCQVQASCSQEENRLAAGALSTSIPWGCRDPGAQVFAVEGKAPSSQPDSQEK
  PAQPPWRKPKTGKKGKESLQDTLEEKTQTNQRGPPLYTKHNPQEQFSENNALDLPVEPNEHYDPPFNISKLLTPI
  IPSKHALDSADSQPAERTPSPPGQLNGYQEKEPSECQSRDSYKSKAPSLLFNLKDVRKRVKSTYSSSPLLKVLDE
  KTRGKVDGKQEPVSNGVILPNGLEESPPNELSKERPADDPTASHINPQKDPTADPSEPSADSYLTLSTAPTIAKA
  PFYVNGEAAERSSYENKEVEGELEMGPAGSSWCPDSREHRPRKHLSLRLCNRDPEPGGATEKMKTHQLENGLSRS
  VSQETEPEREAGLQNTHLNQKFFPGPLSPEEEDVFYSDSQSDFMPSLKGKAKFSTSSSDQSFASFDDQQKMWFTE
  NQREDRRKDVSAGDSQKDEKENVMRKDELQYCALSNGHACLENRSQGEALQRERESVSGGRTRKASAEEANFRGS
  WIGENKGTTFSQAKDLTPSPSSASNRHMLFTIKDNTLRATPVIKPIMLPLLRTMSLEDSLSSGHKEEELPRPEWG
  EDPGFCAPENQDILGTSTPTNTRGTRVKCMANEVMEDPGQGSSMARMEASQPAPKGNFPSMPLVGEGDRVKAPPD
  AAPGLVASNCKSGSADSGKLAAPWHIPTIALPEGDIEDQPPPWQPENCWEEQTPGFKSHFLSTPRAGPPGRRLVP
  SERANSPNPGSPGESSACSPAASNIWEESSQAPGGPELLPEEPNQASPWASSSPARVTRREDLTHALVWEGGSDP
  LLELSAEDLRTLSPRGSLLDVATSPAGTSGRLELPAQLERTASKPPAVPPKTEKALRRAKKLASKRRKTDQAQEK
  HGESQEGKPCPEDLEQTQQRPLCPRERPRHNFPVVRSLPPPVHRHSVSGFSEPVGRRPGGPQSLTPLPAYPATQK
  VLQDPQSGEYFVFDLPLQVKIKTFYDPETGKYVKVSIPSSEGASPEPPPPDALAAPYVLYPGFQPVPVTALMPLR
  CSSQLSAPTFLRQGPRASAARARTQSVHESGLQLDPGPHGDCTPHSAGQRPHGPPQSPGEEGVEAPGLGIISTDD
  LEDFATEGIS

• Structural information:
  • Interpro: IPR027838  
  • STRING: ENSP00000363259
• Other Databases: GeneCards:  C10orf71  Malacards:  C10orf71

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030018	Z disc	ISS	cellular component
GO:0070886	positive regulation of calcineurin-NFAT signaling cascade	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0070886	positive regulation of calcineurin-NFAT signaling cascade	IEA	biological process
GO:0030018	Z disc	IEA	cellular component
GO:0070886	positive regulation of calcineurin-NFAT signaling cascade	IEA	biological process
GO:0030018	Z disc	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq