• Gene id: 79174

Gene Summary

• Gene Symbol: CRELD2   Gene   UCSC   Ensembl
• Gene name: cysteine rich with EGF like domains 2
• Alternate names: protein disulfide isomerase CRELD2, cysteine-rich with EGF-like domain protein 2,
• Gene location: 22q13.33 (49918633: 49927539)     Exons: 12     NC_000022.11
• OMIM: 607171

Protein Summary

• Protein general information: Q6UXH1  
  • Name: Protein disulfide isomerase CRELD2 (EC 5.3.4.1) (Cysteine rich with EGF like domain protein 2)
  • Length: 353  
  • Mass: 38192
  • Tissue specificity: Ubiquitously expressed (PubMed
• Sequence:

  MRLPRRAALGLLPLLLLLPPAPEAAKKPTPCHRCRGLVDKFNQGMVDTAKKNFGGGNTAWEEKTLSKYESSEIRL
  LEILEGLCESSDFECNQMLEAQEEHLEAWWLQLKSEYPDLFEWFCVKTLKVCCSPGTYGPDCLACQGGSQRPCSG
  NGHCSGDGSRQGDGSCRCHMGYQGPLCTDCMDGYFSSLRNETHSICTACDESCKTCSGLTNRDCGECEVGWVLDE
  GACVDVDECAAEPPPCSAAQFCKNANGSYTCEECDSSCVGCTGEGPGNCKECISGYAREHGQCADVDECSLAEKT
  CVRKNENCYNTPGSYVCVCPDGFEETEDACVPPAEAEATEGESPTQLPSREDL

• Structural information:
  • Protein Domains: (136..17-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (290..33-)
    (/note="EGF-like-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"-)
  • Interpro: IPR001881  IPR013032  IPR000742  IPR000152  IPR018097   IPR006212  IPR009030  IPR002049  
  • Prosite: PS00010 PS00022 PS01186 PS50026 PS01187
  • CDD: cd00064
• Other Databases: GeneCards:  CRELD2  Malacards:  CRELD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016853	isomerase activity	IEA	molecular function
GO:0003756	protein disulfide isomerase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray