• Gene id: 124989

Gene Summary

• Gene Symbol: EFCAB13   Gene   UCSC   Ensembl
• Aliases: C17orf57
• Gene name: EF-hand calcium binding domain 13
• Alternate names: EF-hand calcium-binding domain-containing protein 13, EF-hand domain-containing protein C17orf57,
• Gene location: 17q21.32 (47323954: 47441311)     Exons: 25     NC_000017.11
• OMIM: 109636

Protein Summary

• Protein general information: Q8IY85  
  • Name: EF hand calcium binding domain containing protein 13
  • Length: 973  
  • Mass: 110129
• Sequence:

  METKVHLFCQAEENIDLLDDGSNSFATDLSSGTINHKKYIKFSKTIEKEISPEIRSLSPEYKKIFETSIIFCGEE
  KSSDFSGEKKVGRKSLQVQQHSKRTEIIPPFLKLSKEKVTRKENSLCKLPNQYSVHKTSSPLCTSSAITREKEML
  SNLYMTLYDEVTHGYLHSKELSALHKACKIFSKIRSGKIYVNDLPVILCILRISISDLEMRQALKTVDIDAFQDA
  LKIFCRIKGGRVSTDDVFAVLDSMGIPINREILEEVTKHTYIDSNHMVDIGDIIFTLNELQEQYEDVSITEGSPL
  NEITSDRKLSSVAGCYLKYKKKNSLSSKLPEPSISKKLNKKSNQYYSKIMENDDLESKRPKNTWQIRKFLGGVGS
  SNVGVQEPYSKNGINFKKHSEKGEIHDSKSKPQSLKSSTSLSKSLDKSDISSIPKLQKPAVRKHSSLQKQVSSTE
  KTAISTLENFCEAISKLQENYIAAEELQSILPSTGINLLDEEFQKIVTDTSRNENGMVELDDFVNALAKERSFPE
  CNALPGVIKAIDKIKDKNVDYEDLNTCLQNFGIYLSKPEFKKITELTEAGETKKVNFKEFIDTMMSNTECFSEKL
  VLPDAIETLDDLRKETMSVSDLWNTLSSLNSNLKKDEFLAALELVTVDEGDKVQFEEFAKVVRNMRDAARLEELQ
  EVVLAADLLEGDMIAGKNLEDFLRNVGIKSPKEEVEKILQSDFVSEDNMVNIKDCMRALRDTQKFSNYIDFRKEA
  SNLKLPKVNEIKEAANILSHVDNGKIGIPDLEHALKCLNVNLTEEDFNEALNCCNVSDNMEVDLKDFLMKMKESP
  HFQKSKATQILLATTQILQNDLVDVSDLKTLLMDKDLHTANAILTVMLRHVPEHESGKVSIQEFMTKLSDILTIP
  KAAGKFYLICTYCPDLERQAVVYMLKTIQDSIVKAQVSKKQYNMNIKQHKISLHNFCLNSKANIAKLNPNSKF

• Structural information:
  • Protein Domains: (488..52-)
    (/note="EF-hand-1)
    (524..55-)
    (/note="EF-hand-2)
    (633..66-)
    (/note="EF-hand-3)
    (756..79-)
    (/note="EF-hand-4)
    (792..82-)
    (/note="EF-hand-5)
    (864..89-)
    (/note="EF-hand-6")
  • Interpro: IPR011992  
  • STRING: ENSP00000332111
• Other Databases: GeneCards:  EFCAB13  Malacards:  EFCAB13

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881