Gene: ESPNL

339768
-
espin like
protein-coding
2q37.3
Ensembl:ENSG00000144488 Vega:OTTHUMG00000133335 UniprotKB:Q6ZVH7
NC_000002.12
SNP Mapped
11   ANCO-SNPs
AD
0   
3.161e-1 (AD)  5.982e-2 (ND)   (Frontal_Cortex)
2.165e-1 (AD)  7.869e-1 (ND)

ANCO-SNPs

SNP ID Position Alleles Trait Variation Type
rs62197363chr2:238120099 (GRCh38.p7)T>Calcohol dependenceSNV(Single Nucleotide Variation)
rs13025510chr2:238108499 (GRCh38.p7)G>Aalcohol dependenceSNV(Single Nucleotide Variation)
rs878133chr2:238108292 (GRCh38.p7)G>Aalcohol dependenceSNV(Single Nucleotide Variation)
rs878134chr2:238107999 (GRCh38.p7)G>Talcohol dependenceSNV(Single Nucleotide Variation)
rs4663285chr2:238106193 (GRCh38.p7)G>Aalcohol dependenceSNV(Single Nucleotide Variation)
rs62196019chr2:238106074 (GRCh38.p7)G>Aalcohol dependenceSNV(Single Nucleotide Variation)
rs4663837chr2:238105200 (GRCh38.p7)C>A / C>Talcohol dependenceSNV(Single Nucleotide Variation)
rs34878344chr2:238102049 (GRCh38.p7)C>A / C>Talcohol dependenceSNV(Single Nucleotide Variation)
rs62196014chr2:238101526 (GRCh38.p7)C>Galcohol dependenceSNV(Single Nucleotide Variation)
rs13006807chr2:238099901 (GRCh38.p7)C>Talcohol dependenceSNV(Single Nucleotide Variation)
rs41264151chr2:238098994 (GRCh38.p7)G>Aalcohol 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
OR2T350.724
NPC1L10.709
PPEF20.662
ADCY100.65
NPIPB60.63
NANOS20.623
GAGE100.62
FGFR40.61
TLR90.607
C9orf1520.603

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
TMEM86A-0.388
SLC35E3-0.334
ZSCAN1-0.322
WDR31-0.315
CYB561D2-0.311
CARF-0.293
ZNF396-0.29
AGL-0.289
PDK1-0.287
CTSO-0.286

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
D016604Aflatoxin B1Aflatoxin B1 results in increased expression of ESPNL mRNA21641981|2210060
C006780bisphenol Abisphenol A results in decreased expression of ESPNL mRNA25181051
C561695(+)-JQ1 compound(+)-JQ1 compound results in decreased expression of ESPNL mRNA26752646
D010936Plant ExtractsPlant Extracts results in decreased expression of ESPNL mRNA23557933
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin affects the expression of ESPNL mRNA21570461|2637764
C016805tris(1,3-dichloro-2-propyl)phosphate"tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of ESPNL mRNA"26179874
D014635Valproic AcidValproic Acid results in increased methylation of ESPNL gene29154799
D001335Vehicle EmissionsVehicle Emissions results in decreased methylation of ESPNL gene25560391

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0051015actin filament binding-IBA21873635  
GO:0051015actin filament binding-ISS-  
GO ID GO Term Qualifier Evidence PubMed
GO:0007605sensory perception of sound-ISS-  
GO:0051017actin filament bundle assembly-IBA21873635  
GO ID GO Term Qualifier Evidence PubMed
GO:0005737cytoplasm-IBA21873635  
GO:0031941filamentous actinCOLOCALIZES_WITHIBA21873635  
GO:0032426stereocilium tip-ISS-  
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