Gene: USH2A

7399
RP39|US2|USH2|dJ1111A8.1
usherin
protein-coding
1q41
Ensembl:ENSG00000042781 MIM:608400 Vega:OTTHUMG00000037079 UniprotKB:O75445
NG_009497.1
PubMed|SNP Mapped
3   ANCO-SNPs
ND|AD
1   
NA (AD)  NA (ND)   (Frontal_Cortex)
3.936e-1 (AD)  5.617e-1 (ND)

ANCO-SNPs

SNP ID Position Alleles Trait Variation Type
rs12126638chr1:216002354 (GRCh38.p7)T>Cnicotine dependenceSNV(Single Nucleotide Variation)
rs11120594chr1:215665748 (GRCh38.p7)G>Aalcohol dependenceSNV(Single Nucleotide Variation)
rs2677112chr1:215651825 (GRCh38.p7)T>Galcohol dependenceSNV(Single Nucleotide Variation)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
OR5D140.609
HOXD120.605
POTEH0.597
HOXD110.563
OR8K10.562
PKHD10.559
ZNF2300.559
HDX0.557
UHRF20.546
MEOX20.54

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
PLA2G5-0.392
ENDOU-0.354
C16orf74-0.327
PYGM-0.301
ACOX2-0.3
TNNT1-0.277
RLBP1-0.275
TNS3-0.275
MMP28-0.274
HKDC1-0.271

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
D016604Aflatoxin B1Aflatoxin B1 results in decreased methylation of USH2A gene27153756
D000643Ammonium ChlorideAmmonium Chloride affects the expression of USH2A mRNA16483693
D001374AzacitidineAzacitidine results in increased expression of USH2A mRNA20823114
D001564Benzo(a)pyreneBenzo(a)pyrene results in increased expression of USH2A mRNA22228805
C006780bisphenol Abisphenol A results in decreased expression of USH2A mRNA25181051
D003300CopperCopper results in decreased expression of USH2A mRNA18522721
C029892cupric chloridecupric chloride results in decreased expression of USH2A mRNA24650576
D004041Dietary Fats[Dietary Fats co-treated with resveratrol] results in increased expression of USH2A mRNA21852083
D005472FluorouracilTP53 protein affects the reaction [Fluorouracil results in decreased expression of USH2A mRNA]15016801
D008694MethamphetamineMethamphetamine results in decreased methylation of USH2A promoter26307267
C059514resveratrol[Dietary Fats co-treated with resveratrol] results in increased expression of USH2A mRNA21852083
D012969Sodium FluorideSodium Fluoride results in increased expression of USH2A mRNA27862939
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin affects the expression of USH2A mRNA21570461
D001335Vehicle EmissionsVehicle Emissions results in decreased methylation of USH2A gene25560391

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0005515protein binding-IPI16301216  20440071  
GO:0005518collagen binding-IDA14676276  
GO:0017022myosin binding-ISS-  
GO:0042803protein homodimerization activity-IEA-  
GO ID GO Term Qualifier Evidence PubMed
GO:0007601visual perception-IEA-  
GO:0007605sensory perception of sound-IMP10090909  
GO:0035315hair cell differentiation-ISS-  
GO:0045184establishment of protein localization-IEA-  
GO:0045494photoreceptor cell maintenance-IMP10090909  
GO:0048496maintenance of animal organ identity-IMP15671307  
GO:0050896response to stimulus-IEA-  
GO:0050953sensory perception of light stimulus-IMP10090909  
GO:0060113inner ear receptor cell differentiation-ISS-  
GO ID GO Term Qualifier Evidence PubMed
GO:0001917photoreceptor inner segment-IEA-  
GO:0002142stereocilia ankle link complex-ISS-  
GO:0005604basement membrane-IDA12433396  
GO:0005737cytoplasm-IDA16434480  
GO:0016021integral component of membrane-IEA-  
GO:0016324apical plasma membrane-ISS-  
GO:0032391photoreceptor connecting cilium-IEA-  
GO:0032421stereocilium bundle-ISS-  
GO:0036064ciliary basal body-IEA-  
GO:0060171stereocilium membrane-ISS-  
GO:1990075periciliary membrane compartment-IEA-  
GO:1990696USH2 complex-IEA-  
KEGG ID KEGG Term
Reactome ID Reactome Term Evidence

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID Title (Year) Author Journal
21445666Family-based association analysis of alcohol dependence in the COGA sample and replication in the Australian twin-family study. (2011 Sep)Wang KSJ Neural Transm (Vienna)