Property Summary

NCBI Gene PubMed Count 26
Grant Count 41
R01 Count 28
Funding $5,685,234.03
PubMed Score 58.53
PubTator Score 16.45

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
malignant mesothelioma -2.000 0.000
psoriasis -2.200 0.000
sonic hedgehog group medulloblastoma -1.700 0.002
medulloblastoma, large-cell -1.800 0.002
tuberculosis -1.600 0.000
Pick disease -1.100 0.002
invasive ductal carcinoma 1.100 0.010

Pathway (1)

Gene RIF (13)

PMID Text
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.
23441107 In Spain, USH2A and GPR98 are responsible for 95.8% and 5.2% of Usher syndrome 2 mutated cases, respectively. DFNB31 plays a minor role in the Spanish population. There was a group of patients in whom no mutation was found.
22147658 Mutation found in USH2A, GPR98, or DFNB31 account for the vast majority of USH2 patients and their analysis provide a robust pathway for routine molecular diagnosis.
21738389 A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
20583170 Observational study of gene-disease association. (HuGE Navigator)
20414141 Observational study of gene-disease association. (HuGE Navigator)
20352026 DFNB31 is not a major cause of Usher syndrome.
20352026 Observational study of gene-disease association. (HuGE Navigator)
19724906 Overexpression of the signal peptide whirlin isoform 2 is related to disease progression in colorectal cancer patients.
17171570 analysis of a novel genetic subtype for Usher syndrome, USH2D, which is caused by mutations in whirlin
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AA Sequence

MNAPLDGLSVSSSSTGSLGSAAGAGGGGGAGLRLLSANVRQLHQALTALLSEAEREQFTHCLNAYHARRN      1 - 70
VFDLVRTLRVLLDSPVKRRLLPMLRLVIPRSDQLLFDQYTAEGLYLPATTPYRQPAWGGPDSAGPGEVRL     71 - 140
VSLRRAKAHEGLGFSIRGGSEHGVGIYVSLVEPGSLAEKEGLRVGDQILRVNDKSLARVTHAEAVKALKG    141 - 210
SKKLVLSVYSAGRIPGGYVTNHIYTWVDPQGRSISPPSGLPQPHGGALRQQEGDRRSTLHLLQGGDEKKV    211 - 280
NLVLGDGRSLGLTIRGGAEYGLGIYITGVDPGSEAEGSGLKVGDQILEVNGRSFLNILHDEAVRLLKSSR    281 - 350
HLILTVKDVGRLPRARTTVDETKWIASSRIRETMANSAGFLGDLTTEGINKPGFYKGPAGSQVTLSSLGN    351 - 420
QTRVLLEEQARHLLNEQEHATMAYYLDEYRGGSVSVEALVMALFKLLNTHAKFSLLSEVRGTISPQDLER    421 - 490
FDHLVLRREIESMKARQPPGPGAGDTYSMVSYSDTGSSTGSHGTSTTVSSARNTLDLEETGEAVQGNINA    491 - 560
LPDVSVDDVRSTSQGLSSFKPLPRPPPLAQGNDLPLGQPRKLGREDLQPPSSMPSCSGTVFSAPQNRSPP    561 - 630
AGTAPTPGTSSAQDLPSSPIYASVSPANPSSKRPLDAHLALVNQHPIGPFPRVQSPPHLKSPSAEATVAG    631 - 700
GCLLPPSPSGHPDQTGTNQHFVMVEVHRPDSEPDVNEVRALPQTRTASTLSHLSDSGQTLSEDSGVDAGE    701 - 770
AEASAPGRGRQSVSTKSRSSKELPRNERPTDGANKPPGLLEPTSTLVRVKKSAATLGIAIEGGANTRQPL    771 - 840
PRIVTIQRGGSAHNCGQLKVGHVILEVNGLTLRGKEHREAARIIAEAFKTKDRDYIDFLVTEFNVML       841 - 907
//

Text Mined References (29)

PMID Year Title
24618850 2014 Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.
24022220 2013 Usher proteins in inner ear structure and function.
23441107 2013 The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23023331 2012 Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.
22147658 2012 Non-USH2A mutations in USH2 patients.
21738389 2011 A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
21254220 2011 Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
20583170 2010 Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.
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