• Gene id: 794

Gene Summary

• Gene Symbol: CALB2   Gene   UCSC   Ensembl
• Aliases: CAB29, CAL2, CR
• Gene name: calbindin 2
• Alternate names: calretinin, 29 kDa calbindin, calbindin 2, (29kD, calretinin), calbindin D29K, testicular secretory protein Li 8,
• Gene location: 16q22.2 (71358712: 71390437)     Exons: 11     NC_000016.10
• Gene summary(Entrez): This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targ
• OMIM: 114051

Protein Summary

• Protein general information: P22676  
  • Name: Calretinin (CR) (29 kDa calbindin)
  • Length: 271  
  • Mass: 31,540
• Sequence:

  MAGPQQQPPYLHLAELTASQFLEIWKHFDADGNGYIEGKELENFFQELEKARKGSGMMSKSDNFGEKMKEFMQKY
  DKNSDGKIEMAELAQILPTEENFLLCFRQHVGSSAEFMEAWRKYDTDRSGYIEANELKGFLSDLLKKANRPYDEP
  KLQEYTQTILRMFDLNGDGKLGLSEMSRLLPVQENFLLKFQGMKLTSEEFNAIFTFYDKDRSGYIDEHELDALLK
  DLYEKNKKEMNIQQLTNYRKSVMSLAEAGKLYRKDLEIVLCSEPPM

• Structural information:
  • Protein Domains: EF-hand (16-51)
    EF-hand (63-98)
    EF-hand (107-142)
    EF-hand (151-186)
  • Interpro: IPR029646  IPR011992  IPR018247  IPR002048  
  • Prosite: PS00018 PS50222
  • CDD: cd16177
  • STRING: ENSP00000307508
• Other Databases: GeneCards:  CALB2  Malacards:  CALB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0043005	neuron projection	IBA	cellular component
GO:0043195	terminal bouton	IEA	cellular component
GO:0045202	synapse	IBA	cellular component
GO:0051480	regulation of cytosolic calcium ion concentration	IBA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0005921	gap junction	IEA	cellular component
GO:0043005	neuron projection	IBA	cellular component
GO:0043195	terminal bouton	IEA	cellular component
GO:0045202	synapse	IBA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0051480	regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0051480	regulation of cytosolic calcium ion concentration	IBA	biological process
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0043005	neuron projection	IBA	cellular component
GO:0045202	synapse	IBA	cellular component
GO:0051480	regulation of cytosolic calcium ion concentration	IBA	biological process

Diseases

Associated diseases	References
Cancer	GAD: 18214032
Spermatogenesis defects	MIK: 15950053
Non obstructive azoospermia	MIK: 15950053
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Non-obstructive azoospermia	MIK: 15950053
Spermatogenic defects	MIK: 15950053
Male infertility	MIK: 15950053

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
15950053	Non-obstructive azoospermia, spermatogenic failure, male infertility				Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
17921478	Spermatogenic failure			69 samples	Male infertility	Microarray