Summary ?
GeneID1364
SymbolCLDN4
SynonymsCPE-R|CPER|CPETR|CPETR1|WBSCR8|hCPE-R
Descriptionclaudin 4
ReferenceMIM:602909|HGNC:HGNC:2046|Ensembl:ENSG00000189143|HPRD:04218|
Gene typeprotein-coding
Map location7q11.23
Pascal p-value0.686
Fetal beta-0.185
eGeneCaudate basal ganglia
Cerebellar Hemisphere
Cerebellum
Frontal Cortex BA9
Nucleus accumbens basal ganglia
Putamen basal ganglia

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CNV:YESCopy number variation studiesManual curation
CV:PGCnpGenome-wide Association StudyGWAS
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 1 

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs7777704773210977CLDN4ENSG00000189143.84.999E-60-2895gtex_brain_putamen_basal
rs28414777773212647CLDN4ENSG00000189143.86.426E-60-1225gtex_brain_putamen_basal
rs12537291773212929CLDN4ENSG00000189143.86.3E-60-943gtex_brain_putamen_basal
rs4632942773213712CLDN4ENSG00000189143.85.921E-60-160gtex_brain_putamen_basal
rs10223902773214382CLDN4ENSG00000189143.85.613E-60510gtex_brain_putamen_basal
rs12668451773214999CLDN4ENSG00000189143.82.132E-601127gtex_brain_putamen_basal
rs10949828773216733CLDN4ENSG00000189143.81.855E-602861gtex_brain_putamen_basal
rs150887167773220024CLDN4ENSG00000189143.82.381E-606152gtex_brain_putamen_basal
rs7796554773220040CLDN4ENSG00000189143.82.698E-606168gtex_brain_putamen_basal
rs6460060773221042CLDN4ENSG00000189143.81.237E-607170gtex_brain_putamen_basal
rs35558014773223077CLDN4ENSG00000189143.88.271E-709205gtex_brain_putamen_basal
rs7812097773223473CLDN4ENSG00000189143.81.096E-609601gtex_brain_putamen_basal
rs4355658773225692CLDN4ENSG00000189143.81.017E-6011820gtex_brain_putamen_basal
rs7804571773233877CLDN4ENSG00000189143.82.01E-6020005gtex_brain_putamen_basal
rs4717820773236266CLDN4ENSG00000189143.86.423E-7022394gtex_brain_putamen_basal
rs13223112773236508CLDN4ENSG00000189143.81.773E-6022636gtex_brain_putamen_basal
rs6946037773236715CLDN4ENSG00000189143.81.655E-6022843gtex_brain_putamen_basal
rs13234080773237631CLDN4ENSG00000189143.86.469E-7023759gtex_brain_putamen_basal
rs7798477773238330CLDN4ENSG00000189143.86.483E-7024458gtex_brain_putamen_basal
rs7798641773238428CLDN4ENSG00000189143.86.487E-7024556gtex_brain_putamen_basal
rs13228435773239172CLDN4ENSG00000189143.86.5E-7025300gtex_brain_putamen_basal
rs4255023773239618CLDN4ENSG00000189143.81.684E-6025746gtex_brain_putamen_basal
rs7808268773240171CLDN4ENSG00000189143.86.369E-7026299gtex_brain_putamen_basal
rs7808585773240296CLDN4ENSG00000189143.81.641E-6026424gtex_brain_putamen_basal
rs4717109773240991CLDN4ENSG00000189143.86.172E-7027119gtex_brain_putamen_basal
rs4717821773240993CLDN4ENSG00000189143.81.6E-6027121gtex_brain_putamen_basal
rs7455225773241386CLDN4ENSG00000189143.82.377E-6027514gtex_brain_putamen_basal
rs6974182773242977CLDN4ENSG00000189143.85.847E-7029105gtex_brain_putamen_basal
rs6974378773243139CLDN4ENSG00000189143.85.818E-7029267gtex_brain_putamen_basal
rs4717822773243786CLDN4ENSG00000189143.83.021E-7029914gtex_brain_putamen_basal
rs7793169773244214CLDN4ENSG00000189143.85.146E-7030342gtex_brain_putamen_basal
rs7793313773244282CLDN4ENSG00000189143.81.322E-6030410gtex_brain_putamen_basal
rs4304220773244761CLDN4ENSG00000189143.81.192E-6030889gtex_brain_putamen_basal
rs4640941773245103CLDN4ENSG00000189143.81.117E-6031231gtex_brain_putamen_basal
rs4458741773245179CLDN4ENSG00000189143.84.14E-7031307gtex_brain_putamen_basal
rs8629773245519CLDN4ENSG00000189143.83.365E-7031647gtex_brain_putamen_basal
rs1127155773246461CLDN4ENSG00000189143.85.145E-7032589gtex_brain_putamen_basal
rs1127156773246496CLDN4ENSG00000189143.83.365E-7032624gtex_brain_putamen_basal
rs11316773246555CLDN4ENSG00000189143.88.911E-7032683gtex_brain_putamen_basal
rs9691413773247204CLDN4ENSG00000189143.83.365E-7033332gtex_brain_putamen_basal
rs6968360773247732CLDN4ENSG00000189143.85.145E-7033860gtex_brain_putamen_basal
rs7786850773248572CLDN4ENSG00000189143.83.504E-7034700gtex_brain_putamen_basal
rs4286826773248586CLDN4ENSG00000189143.83.455E-7034714gtex_brain_putamen_basal
rs4473910773248662CLDN4ENSG00000189143.83.365E-7034790gtex_brain_putamen_basal
rs13246460773249165CLDN4ENSG00000189143.83.365E-7035293gtex_brain_putamen_basal
rs13232463773249299CLDN4ENSG00000189143.83.365E-7035427gtex_brain_putamen_basal
rs1989670773251919CLDN4ENSG00000189143.84.047E-7038047gtex_brain_putamen_basal
rs4484569773252900CLDN4ENSG00000189143.83.365E-7039028gtex_brain_putamen_basal
rs4304218773252980CLDN4ENSG00000189143.88.911E-7039108gtex_brain_putamen_basal
rs7811711773253100CLDN4ENSG00000189143.83.365E-7039228gtex_brain_putamen_basal
rs7811317773253107CLDN4ENSG00000189143.83.365E-7039235gtex_brain_putamen_basal
rs13247441773253143CLDN4ENSG00000189143.83.365E-7039271gtex_brain_putamen_basal
rs10282443773253243CLDN4ENSG00000189143.83.365E-7039371gtex_brain_putamen_basal
rs10252756773253270CLDN4ENSG00000189143.85.145E-7039398gtex_brain_putamen_basal
rs13223593773253772CLDN4ENSG00000189143.83.365E-7039900gtex_brain_putamen_basal
rs13241921773254812CLDN4ENSG00000189143.83.279E-7040940gtex_brain_putamen_basal
rs13242043773254910CLDN4ENSG00000189143.88.874E-7041038gtex_brain_putamen_basal
rs4333464773255165CLDN4ENSG00000189143.83.247E-7041293gtex_brain_putamen_basal
rs4314544773255252CLDN4ENSG00000189143.83.236E-7041380gtex_brain_putamen_basal
rs4717823773255647CLDN4ENSG00000189143.88.908E-7041775gtex_brain_putamen_basal
rs10276377773256838CLDN4ENSG00000189143.83.107E-7042966gtex_brain_putamen_basal
rs10233067773256920CLDN4ENSG00000189143.83.107E-7043048gtex_brain_putamen_basal
rs7809965773257901CLDN4ENSG00000189143.83.057E-7044029gtex_brain_putamen_basal
rs201658367773258086CLDN4ENSG00000189143.81.474E-7044214gtex_brain_putamen_basal
rs11763367773258087CLDN4ENSG00000189143.81.507E-7044215gtex_brain_putamen_basal
rs1073909773258289CLDN4ENSG00000189143.83.968E-7044417gtex_brain_putamen_basal
rs10225983773258750CLDN4ENSG00000189143.82.785E-7044878gtex_brain_putamen_basal
rs4301345773259935CLDN4ENSG00000189143.83.01E-7046063gtex_brain_putamen_basal
rs9647786773260670CLDN4ENSG00000189143.88.934E-7046798gtex_brain_putamen_basal
rs10234724773261247CLDN4ENSG00000189143.82.944E-7047375gtex_brain_putamen_basal
rs13221434773261817CLDN4ENSG00000189143.85.567E-7047945gtex_brain_putamen_basal
rs4994790773263375CLDN4ENSG00000189143.82.018E-7049503gtex_brain_putamen_basal
rs7804928773264227CLDN4ENSG00000189143.84.651E-7050355gtex_brain_putamen_basal
rs4717110773265100CLDN4ENSG00000189143.84.619E-7051228gtex_brain_putamen_basal
rs4717111773265177CLDN4ENSG00000189143.84.26E-7051305gtex_brain_putamen_basal
rs4717112773265417CLDN4ENSG00000189143.84.604E-7051545gtex_brain_putamen_basal
rs10271009773266246CLDN4ENSG00000189143.84.562E-7052374gtex_brain_putamen_basal
rs36133747773266323CLDN4ENSG00000189143.84.533E-7052451gtex_brain_putamen_basal
rs34946565773266502CLDN4ENSG00000189143.87.443E-7052630gtex_brain_putamen_basal
rs4341060773267473CLDN4ENSG00000189143.81.459E-6053601gtex_brain_putamen_basal
rs4327742773267726CLDN4ENSG00000189143.82.935E-6053854gtex_brain_putamen_basal
rs6949053773269937CLDN4ENSG00000189143.81.797E-6056065gtex_brain_putamen_basal
rs11764412773272904CLDN4ENSG00000189143.83.222E-6059032gtex_brain_putamen_basal
rs4717826773273361CLDN4ENSG00000189143.81.352E-6059489gtex_brain_putamen_basal
rs4324825773275396CLDN4ENSG00000189143.82.726E-6061524gtex_brain_putamen_basal

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (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 the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
ABCA80.840.81
PIP5K2A0.840.76
KIF13B0.830.74
ERMN0.830.67
NPC10.830.77
PLD10.820.81
C10orf900.820.71
ANLN0.820.74
ENPP20.820.68
FOLH10.820.67
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
C1orf86-0.44-0.57
AC009133.1-0.42-0.45
NOL12-0.42-0.48
SCNM1-0.42-0.52
NR2C2AP-0.42-0.47
FAM128A-0.41-0.49
MED19-0.41-0.47
RPL36-0.41-0.62
CCDC107-0.41-0.49
DALRD3-0.41-0.46

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0004888transmembrane receptor activityTAS9334247 
GO:0005198structural molecule activityIEA-
GO:0042802identical protein bindingISS-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0009405pathogenesisTAS9334247 
GO:0016338calcium-independent cell-cell adhesionISS-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005923tight junctionISSBrain (GO term level: 10)-
GO:0005886plasma membraneTAS9334247 |9892664 
GO:0005887integral to plasma membraneTAS9334247 
GO:0030054cell junctionIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG CELL ADHESION MOLECULES CAMS 13493All SZGR 2.0 genes in this pathway
KEGG TIGHT JUNCTION 13486All SZGR 2.0 genes in this pathway
KEGG LEUKOCYTE TRANSENDOTHELIAL MIGRATION 11878All SZGR 2.0 genes in this pathway
REACTOME CELL CELL COMMUNICATION 12077All SZGR 2.0 genes in this pathway
REACTOME CELL CELL JUNCTION ORGANIZATION 5631All SZGR 2.0 genes in this pathway
REACTOME TIGHT JUNCTION INTERACTIONS 2911All SZGR 2.0 genes in this pathway
REACTOME CELL JUNCTION ORGANIZATION 7843All SZGR 2.0 genes in this pathway
CHEMNITZ RESPONSE TO PROSTAGLANDIN E2 DN 391222All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL UP 450256All SZGR 2.0 genes in this pathway
RODRIGUES NTN1 TARGETS DN 158102All SZGR 2.0 genes in this pathway
NAGASHIMA NRG1 SIGNALING UP 176123All SZGR 2.0 genes in this pathway
COLDREN GEFITINIB RESISTANCE DN 230115All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE UP 530342All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 1 DN 378231All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 4 5WK UP 271175All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL TGFB1 TARGETS DN 6244All SZGR 2.0 genes in this pathway
MUELLER METHYLATED IN GLIOBLASTOMA 4022All SZGR 2.0 genes in this pathway
RASHI RESPONSE TO IONIZING RADIATION 2 12792All SZGR 2.0 genes in this pathway
LI AMPLIFIED IN LUNG CANCER 178108All SZGR 2.0 genes in this pathway
AIYAR COBRA1 TARGETS DN 2918All SZGR 2.0 genes in this pathway
MAINA HYPOXIA VHL TARGETS UP 65All SZGR 2.0 genes in this pathway
MAINA VHL TARGETS DN 1814All SZGR 2.0 genes in this pathway
JAZAG TGFB1 SIGNALING VIA SMAD4 DN 6638All SZGR 2.0 genes in this pathway
WATTEL AUTONOMOUS THYROID ADENOMA DN 5529All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 48HR UP 487286All SZGR 2.0 genes in this pathway
WU CELL MIGRATION 184114All SZGR 2.0 genes in this pathway
ONDER CDH1 TARGETS 2 DN 464276All SZGR 2.0 genes in this pathway
SHEPARD CRUSH AND BURN MUTANT UP 197110All SZGR 2.0 genes in this pathway
ZUCCHI METASTASIS DN 4429All SZGR 2.0 genes in this pathway
SWEET KRAS TARGETS UP 8451All SZGR 2.0 genes in this pathway
HALMOS CEBPA TARGETS DN 4626All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 14HR DN 298200All SZGR 2.0 genes in this pathway
YAMAZAKI TCEB3 TARGETS DN 215132All SZGR 2.0 genes in this pathway
DAZARD RESPONSE TO UV NHEK UP 244151All SZGR 2.0 genes in this pathway
WANG CISPLATIN RESPONSE AND XPC UP 202115All SZGR 2.0 genes in this pathway
DAZARD UV RESPONSE CLUSTER G2 3018All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 5 482296All SZGR 2.0 genes in this pathway
YEGNASUBRAMANIAN PROSTATE CANCER 12860All SZGR 2.0 genes in this pathway
HUPER BREAST BASAL VS LUMINAL DN 5944All SZGR 2.0 genes in this pathway
HAN SATB1 TARGETS UP 395249All SZGR 2.0 genes in this pathway
ELLWOOD MYC TARGETS DN 4027All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3 UNMETHYLATED 536296All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K27ME3 269159All SZGR 2.0 genes in this pathway
COULOUARN TEMPORAL TGFB1 SIGNATURE UP 10968All SZGR 2.0 genes in this pathway
YAMASHITA LIVER CANCER STEM CELL UP 4738All SZGR 2.0 genes in this pathway
MIKKELSEN MEF HCP WITH H3K27ME3 590403All SZGR 2.0 genes in this pathway
DAZARD UV RESPONSE CLUSTER G24 2819All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 1HR DN 222147All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 24HR DN 505328All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 UP 430288All SZGR 2.0 genes in this pathway
DELPUECH FOXO3 TARGETS UP 6849All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3 824528All SZGR 2.0 genes in this pathway
KOHOUTEK CCNT1 TARGETS 5026All SZGR 2.0 genes in this pathway
MALIK REPRESSED BY ESTROGEN 1210All SZGR 2.0 genes in this pathway
RAO BOUND BY SALL4 ISOFORM B 517302All SZGR 2.0 genes in this pathway
LIM MAMMARY STEM CELL DN 428246All SZGR 2.0 genes in this pathway
ZWANG CLASS 3 TRANSIENTLY INDUCED BY EGF 222159All SZGR 2.0 genes in this pathway