• Gene id: 54997

Gene Summary

• Gene Symbol: TESC   Gene   UCSC   Ensembl
• Aliases: CHP3, TSC
• Gene name: tescalcin
• Alternate names: calcineurin B homologous protein 3, calcineurin-like EF hand protein 3,
• Gene location: 12q24.22 (117099489: 117038922)     Exons: 9     NC_000012.12
• OMIM: 611585

Protein Summary

• Protein general information: Q96BS2  
  • Name: Calcineurin B homologous protein 3 (Tescalcin) (TSC)
  • Length: 214  
  • Mass: 24750
  • Tissue specificity: Expressed in mature megakaryocytes and polymorphonuclear granulocytes (at protein level). Abundantly expressed in heart. Also expressed at a lower level in adult testis and salivary gland, and in the placenta. {ECO
• Sequence:

  MGAAHSASEEVRELEGKTGFSSDQIEQLHRRFKQLSGDQPTIRKENFNNVPDLELNPIRSKIVRAFFDNRNLRKG
  PSGLADEINFEDFLTIMSYFRPIDTTMDEEQVELSRKEKLRFLFHMYDSDSDGRITLEEYRNVVEELLSGNPHIE
  KESARSIADGAMMEAASVCMGQMEPDQVYEGITFEDFLKIWQGIDIETKMHVRFLNMETMALCH

• Structural information:
  • Protein Domains: (110..14-)
    (/note="EF-hand-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448"-)
  • Interpro: IPR011992  IPR018247  IPR002048  
  • Prosite: PS00018 PS50222
  • STRING: ENSP00000334785
• Other Databases: GeneCards:  TESC  Malacards:  TESC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000287	magnesium ion binding	ISS	molecular function
GO:0001726	ruffle	ISS	cellular component
GO:0019212	phosphatase inhibitor activity	ISS	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0072659	protein localization to plasma membrane	IDA	biological process
GO:0051604	protein maturation	IDA	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0005509	calcium ion binding	IDA	molecular function
GO:0071300	cellular response to retinoic acid	IDA	biological process
GO:0032417	positive regulation of sodium:proton antiporter activity	IDA	biological process
GO:0030854	positive regulation of granulocyte differentiation	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0001726	ruffle	ISS	cellular component
GO:0000287	magnesium ion binding	ISS	molecular function
GO:0019212	phosphatase inhibitor activity	ISS	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0004860	protein kinase inhibitor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032587	ruffle membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006469	negative regulation of protein kinase activity	IEA	biological process
GO:0043086	negative regulation of catalytic activity	IEA	biological process
GO:0043086	negative regulation of catalytic activity	IEA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0030027	lamellipodium	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045654	positive regulation of megakaryocyte differentiation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0008285	negative regulation of cell population proliferation	IMP	biological process
GO:0033628	regulation of cell adhesion mediated by integrin	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0010628	positive regulation of gene expression	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray