Property Summary

NCBI Gene PubMed Count 26
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 1.8e-06
psoriasis -2.200 3.6e-05
sonic hedgehog group medulloblastoma -1.700 1.7e-03
medulloblastoma, large-cell -1.800 2.4e-03
tuberculosis -1.600 4.2e-08
Pick disease -1.100 2.0e-03
invasive ductal carcinoma 1.100 9.6e-03

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
16434480 This paper concludes that this protein plays a role in photoreceptor and hair cell synapse organization in the related rat gene.
12833159 Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
12641734 This paper describes a PDZ domain protein and its role in synaptic transmission in the related rat gene.

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.
20414141 2010 Family-based association study for bipolar affective disorder.
20352026 2010 Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
19724906 2009 Overexpression of the signal peptide whirlin isoform 2 is related to disease progression in colorectal cancer patients.
19308021 2009 Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17584769 2007 MPP1 links the Usher protein network and the Crumbs protein complex in the retina.
17171570 2007 A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
16434480 2006 The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15841483 2005 Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164053 2004 DNA sequence and analysis of human chromosome 9.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12833159 2003 Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.
12641734 2003 CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12421765 2002 Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs.
11973626 2002 DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.
10819331 2000 Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.