• Gene id: 10231

Gene Summary

• Gene Symbol: RCAN2   Gene   UCSC   Ensembl
• Aliases: CSP2, DSCR1L1, MCIP2, RCN2, ZAKI-4, ZAKI4
• Gene name: regulator of calcineurin 2
• Alternate names: calcipressin-2, Down syndrome candidate region 1-like 1, Down syndrome critical region gene 1-like 1, myocyte-enriched calcineurin-interacting protein 2, thyroid hormone-responsive (skin fibroblasts), thyroid hormone-responsive protein ZAKI-4,
• Gene location: 6p12.3 (46492066: 46220729)     Exons: 8     NC_000006.12
• Gene summary(Entrez): This gene encodes a member of the regulator of calcineurin (RCAN) protein family. These proteins play a role in many physiological processes by binding to the catalytic domain of calcineurin A, inhibiting calcineurin-mediated nuclear translocation of the
• OMIM: 604876

Protein Summary

• Protein general information: Q14206  
  • Name: Calcipressin 2 (Down syndrome candidate region 1 like 1) (Myocyte enriched calcineurin interacting protein 2) (MCIP2) (Regulator of calcineurin 2) (Thyroid hormone responsive protein ZAKI 4)
  • Length: 197  
  • Mass: 21997
  • Tissue specificity: Expressed in fibroblasts, heart, brain, liver, and skeletal muscle but not in placenta, lung, kidney and pancreas.
• Sequence:

  MPAPSMDCDVSTLVACVVDVEVFTNQEVKEKFEGLFRTYDDCVTFQLFKSFRRVRINFSNPKSAARARIELHETQ
  FRGKKLKLYFAQVQTPETDGDKLHLAPPQPAKQFLISPPSSPPVGWQPINDATPVLNYDLLYAVAKLGPGEKYEL
  HAGTESTPSVVVHVCDSDIEEEEDPKTSPKPKIIQTRRPGLPPSVSN

• Structural information:
  • Interpro: IPR006931  IPR012677  IPR035979  IPR034921  IPR034919  
  • CDD: cd12709
  • STRING: ENSP00000360425
• Other Databases: GeneCards:  RCAN2  Malacards:  RCAN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0008597	calcium-dependent protein serine/threonine phosphatase regulator activity	IBA	molecular function
GO:0070884	regulation of calcineurin-NFAT signaling cascade	IBA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0019722	calcium-mediated signaling	IEA	biological process
GO:0043666	regulation of phosphoprotein phosphatase activity	IEA	biological process
GO:0005575	cellular_component	ND	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04919	Thyroid hormone signaling pathway

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
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)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray