CIB2 (calcium and integrin binding family member 2)

2007-04-01  

Identity

HGNC
CIB2
LOCATION
15q25.1
LOCUSID
10518
ALIAS
DFNB48,KIP2,USH1J
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
230233312012Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.89
240222202013Usher proteins in inner ear structure and function.13
264264222015A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.12
227799142012Biophysical and structural studies of the human calcium- and integrin-binding protein family: understanding their functional similarities and differences.10
261739702016Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.8
287294162017CIB2 Negatively Regulates Oncogenic Signaling in Ovarian Cancer via Sphingosine Kinase 1.8
291122242018Variants in CIB2 cause DFNB48 and not USH1J.7
274890232016CIB1 and CIB2 are HIV-1 helper factors involved in viral entry.3
263786842016Integrated multiomics approach identifies calcium and integrin-binding protein-2 as a novel gene for pulse wave velocity.2
290868872017Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.2

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