Property Summary

NCBI Gene PubMed Count 20
PubMed Score 14.67
PubTator Score 11.92

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count
USHER SYNDROME, TYPE IJ 1
Disease Target Count P-value
group 4 medulloblastoma 1875 5.3915504519761E-7
atypical teratoid / rhabdoid tumor 4369 7.23534884893454E-6
osteosarcoma 7933 1.15395576653042E-4
glioblastoma 5572 8.54861181057494E-4
pituitary cancer 1972 0.00283189644134348
primitive neuroectodermal tumor 3031 0.00474131787313865
facioscapulohumeral dystrophy 286 0.0366801974465008
Disease Target Count Z-score Confidence
Nonsyndromic deafness 121 5.047 2.5
Retinitis pigmentosa 156 0.0 4.0
Disease Target Count Z-score Confidence
Usher syndrome 34 5.054 2.5

Expression

  Differential Expression (7)

Disease log2 FC p
osteosarcoma 1.241 0.000
atypical teratoid / rhabdoid tumor 1.100 0.000
glioblastoma 1.100 0.001
primitive neuroectodermal tumor 1.200 0.005
group 4 medulloblastoma 1.300 0.000
pituitary cancer 1.100 0.003
facioscapulohumeral dystrophy 1.700 0.037

Synonym

Accession O75838 B4DDF0 H0YM71 Q05BT6
Symbols KIP2
USH1J
DFNB48

Gene

  Ortholog (11)

Species Source
Chimp OMA EggNOG
Macaque EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG Inparanoid
Opossum EggNOG Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA EggNOG
Xenopus OMA EggNOG Inparanoid

Pathway (1)

Gene RIF (7)

PMID Text
26426422 CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family
26378684 We identified a novel variant (rs7164338) on chromosome 15q25.1 in the CIB2 associated with lower pulse wave velocity.
24022220 Data indicate that that CIB2 localizes to stereocilia and interacts with the USH proteins myosin VIIa and whirlin, suggesting CIB2 is a Ca2+-buffering protein essential for calcium homeostasis in the mechanosensory stereocilia of inner ear hair cells.
23023331 Consistent with molecular modeling predictions of calcium binding, CIB2 significantly decreased the ATP-induced calcium responses in heterologous cells, whereas mutations in deafness DFNB48 altered CIB2 effects on calcium responses
22779914 CIB2, as binding partners for the integrin alphaIIb subunit, which suggests that they are potentially involved in regulating integrin alphaIIb subunit activation.
20174665 Screening in Jurkat T-cells with a short-hairpin-RNA (shRNA) library identifies calcium and integrin binding family member 2 (CIB2) is important for HIV-1 replication
18976975 Screening in Jurkat T-cells with a short-hairpin-RNA (shRNA) library identifies calcium and integrin binding family member 2 (CIB2) is important for HIV-1 replication

AA Sequence

MGNKQTIFTEEQLDNYQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLIIQMPELRENPF      1 - 70
KERIVAAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSEL     71 - 140
DEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFLSTFHIRI                           141 - 187
//

Text Mined References (21)

PMID Year Title
26426422 2015 A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.
26378684 2016 Integrated multiomics approach identifies calcium and integrin-binding protein-2 as a novel gene for pulse wave velocity.
26173970 2016 Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.
24616153 2014 Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
24428592 2014 Rare case of peritoneal complete hydatidiform mole.
24239741 2014 Usher protein functions in hair cells and photoreceptors.
24022220 2013 Usher proteins in inner ear structure and function.
23331261 2013 Mutations in CIB2 calcium and integrin-binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type 1J and non-syndromic deafness DFNB48.
23275889 2012 A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
23023331 2012 Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
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