CIB2 (calcium and integrin binding family member 2)

2007-04-01  

Identity

HGNC
LOCATION
15q25.1
LOCUSID
ALIAS
DFNB48,KIP2,USH1J
FUSION GENES

Other Information

Locus ID:

NCBI: 10518
MIM: 605564
HGNC: 24579
Ensembl: ENSG00000136425

Variants:

dbSNP: 10518
ClinVar: 10518
TCGA: ENSG00000136425
COSMIC: CIB2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136425ENST00000258930O75838
ENSG00000136425ENST00000539011O75838
ENSG00000136425ENST00000557818H0YML3
ENSG00000136425ENST00000557846O75838
ENSG00000136425ENST00000557917H0YND4
ENSG00000136425ENST00000559054H0YLX3
ENSG00000136425ENST00000559645H0YKX8
ENSG00000136425ENST00000560618H0YKC8
ENSG00000136425ENST00000561190H0YLL7
ENSG00000136425ENST00000643268A0A2R8Y4Y2

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
354089102022Calcium- and Integrin-Binding Protein 2 (CIB2) in Physiology and Disease: Bright and Dark Sides.2
354089102022Calcium- and Integrin-Binding Protein 2 (CIB2) in Physiology and Disease: Bright and Dark Sides.2
340896432021CIB2 and CIB3 are auxiliary subunits of the mechanotransduction channel of hair cells.28
340896432021CIB2 and CIB3 are auxiliary subunits of the mechanotransduction channel of hair cells.28
316363332019Oligomeric state, hydrodynamic properties and target recognition of human Calcium and Integrin Binding protein 2 (CIB2).6
316363332019Oligomeric state, hydrodynamic properties and target recognition of human Calcium and Integrin Binding protein 2 (CIB2).6
291122242018Variants in CIB2 cause DFNB48 and not USH1J.30
291122242018Variants in CIB2 cause DFNB48 and not USH1J.30
287294162017CIB2 Negatively Regulates Oncogenic Signaling in Ovarian Cancer via Sphingosine Kinase 1.18
290868872017Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.3
287294162017CIB2 Negatively Regulates Oncogenic Signaling in Ovarian Cancer via Sphingosine Kinase 1.18
290868872017Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.3
261739702016Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.17
263786842016Integrated multiomics approach identifies calcium and integrin-binding protein-2 as a novel gene for pulse wave velocity.5
274890232016CIB1 and CIB2 are HIV-1 helper factors involved in viral entry.6

Citation

Dessen P

CIB2 (calcium and integrin binding family member 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46926/cib2-(calcium-and-integrin-binding-family-member-2)