• Gene id: 10518

Gene Summary

• Gene Symbol: CIB2   Gene   UCSC   Ensembl
• Aliases: DFNB48, KIP2, USH1J
• Gene name: calcium and integrin binding family member 2
• Alternate names: calcium and integrin-binding family member 2, DNA-dependent protein kinase catalytic subunit-interacting protein 2,
• Gene location: 15q25.1 (78131975: 78104605)     Exons: 7     NC_000015.10
• Gene summary(Entrez): The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved i
• OMIM: 605564

Protein Summary

• Protein general information: O75838  
  • Name: Calcium and integrin binding family member 2 (Kinase interacting protein 2) (KIP 2)
  • Length: 187  
  • Mass: 21644
  • Tissue specificity: Widely expressed (PubMed
• Sequence:

  MGNKQTIFTEEQLDNYQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLIIQMPELRENPFKERIV
  AAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCD
  KVIEEADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI

• Structural information:
  • Protein Domains: (66..10-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (103..13-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (144..17-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU-)
  • Interpro: IPR011992  IPR018247  IPR002048  
  • Prosite: PS00018 PS50222
  • CDD: cd00051
  • STRING: ENSP00000258930
• Other Databases: GeneCards:  CIB2  Malacards:  CIB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0071318	cellular response to ATP	IDA	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IDA	biological process
GO:0071318	cellular response to ATP	IDA	biological process
GO:0032437	cuticular plate	IDA	cellular component
GO:0032420	stereocilium	IDA	cellular component
GO:0007204	positive regulation of cytosolic calcium ion concentration	IDA	biological process
GO:0032420	stereocilium	IDA	cellular component
GO:0055074	calcium ion homeostasis	ISS	biological process
GO:0045494	photoreceptor cell maintenance	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0001750	photoreceptor outer segment	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001917	photoreceptor inner segment	ISS	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0055074	calcium ion homeostasis	IEA	biological process
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0005178	integrin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005927	muscle tendon junction	IEA	cellular component
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0032420	stereocilium	IEA	cellular component
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0072562	blood microparticle	HDA	cellular component

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Usher syndrome	KEGG:H00779
Deafness, autosomal recessive	KEGG:H00605
Usher syndrome	KEGG:H00779
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray