Summary?
GeneID 1364
Symbol CLDN4
Synonyms CPE-R|CPER|CPETR|CPETR1|WBSCR8|hCPE-R
Description claudin 4
Reference MIM:602909|HGNC:HGNC:2046|Ensembl:ENSG00000189143|HPRD:04218|
Gene type protein-coding
Map location 7q11.23
Pascal p-value 0.686
Fetal beta -0.185
eGene Caudate basal ganglia
Cerebellar Hemisphere
Cerebellum
Frontal Cortex BA9
Nucleus accumbens basal ganglia
Putamen basal ganglia

Gene in Data Sources
基因集name Method of gene set Description Info
CNV:YES Copy number variation studies Manual curation
CV:PGCnp Genome-wide Association Study GWAS
GO_Annotation Mapping neuro-related keywords to Gene Ontology annotations Hits with neuro-related keywords: 1

Section I. Genetics and epigenetics annotation

@eQTL注释

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs7777704 7 73210977 CLDN4 ENSG00000189143.8 4.999E-6 0 -2895 gtex_brain_putamen_basal
rs28414777 7 73212647 CLDN4 ENSG00000189143.8 6.426E-6 0 -1225 gtex_brain_putamen_basal
rs12537291 7 73212929 CLDN4 ENSG00000189143.8 6.3E-6 0 -943 gtex_brain_putamen_basal
rs4632942 7 73213712 CLDN4 ENSG00000189143.8 5.921E-6 0 -160 gtex_brain_putamen_basal
rs10223902 7 73214382 CLDN4 ENSG00000189143.8 5.613E-6 0 510 gtex_brain_putamen_basal
rs12668451 7 73214999 CLDN4 ENSG00000189143.8 2.132E-6 0 1127 gtex_brain_putamen_basal
rs10949828 7 73216733 CLDN4 ENSG00000189143.8 1.855E-6 0 2861 gtex_brain_putamen_basal
rs150887167 7 73220024 CLDN4 ENSG00000189143.8 2.381E-6 0 6152 gtex_brain_putamen_basal
rs7796554 7 73220040 CLDN4 ENSG00000189143.8 2.698E-6 0 6168 gtex_brain_putamen_basal
rs6460060 7 73221042 CLDN4 ENSG00000189143.8 1.237E-6 0 7170 gtex_brain_putamen_basal
rs35558014 7 73223077 CLDN4 ENSG00000189143.8 8.271E-7 0 9205 gtex_brain_putamen_basal
rs7812097 7 73223473 CLDN4 ENSG00000189143.8 1.096E-6 0 9601 gtex_brain_putamen_basal
rs4355658 7 73225692 CLDN4 ENSG00000189143.8 1.017E-6 0 11820 gtex_brain_putamen_basal
rs7804571 7 73233877 CLDN4 ENSG00000189143.8 2.01E-6 0 20005 gtex_brain_putamen_basal
rs4717820 7 73236266 CLDN4 ENSG00000189143.8 6.423E-7 0 22394 gtex_brain_putamen_basal
rs13223112 7 73236508 CLDN4 ENSG00000189143.8 1.773E-6 0 22636 gtex_brain_putamen_basal
rs6946037 7 73236715 CLDN4 ENSG00000189143.8 1.655E-6 0 22843 gtex_brain_putamen_basal
rs13234080 7 73237631 CLDN4 ENSG00000189143.8 6.469E-7 0 23759 gtex_brain_putamen_basal
rs7798477 7 73238330 CLDN4 ENSG00000189143.8 6.483E-7 0 24458 gtex_brain_putamen_basal
rs7798641 7 73238428 CLDN4 ENSG00000189143.8 6.487E-7 0 24556 gtex_brain_putamen_basal
rs13228435 7 73239172 CLDN4 ENSG00000189143.8 6.5E-7 0 25300 gtex_brain_putamen_basal
rs4255023 7 73239618 CLDN4 ENSG00000189143.8 1.684E-6 0 25746 gtex_brain_putamen_basal
rs7808268 7 73240171 CLDN4 ENSG00000189143.8 6.369E-7 0 26299 gtex_brain_putamen_basal
rs7808585 7 73240296 CLDN4 ENSG00000189143.8 1.641E-6 0 26424 gtex_brain_putamen_basal
rs4717109 7 73240991 CLDN4 ENSG00000189143.8 6.172E-7 0 27119 gtex_brain_putamen_basal
rs4717821 7 73240993 CLDN4 ENSG00000189143.8 1.6E-6 0 27121 gtex_brain_putamen_basal
rs7455225 7 73241386 CLDN4 ENSG00000189143.8 2.377E-6 0 27514 gtex_brain_putamen_basal
rs6974182 7 73242977 CLDN4 ENSG00000189143.8 5.847E-7 0 29105 gtex_brain_putamen_basal
rs6974378 7 73243139 CLDN4 ENSG00000189143.8 5.818E-7 0 29267 gtex_brain_putamen_basal
rs4717822 7 73243786 CLDN4 ENSG00000189143.8 3.021E-7 0 29914 gtex_brain_putamen_basal
rs7793169 7 73244214 CLDN4 ENSG00000189143.8 5.146E-7 0 30342 gtex_brain_putamen_basal
rs7793313 7 73244282 CLDN4 ENSG00000189143.8 1.322E-6 0 30410 gtex_brain_putamen_basal
rs4304220 7 73244761 CLDN4 ENSG00000189143.8 1.192E-6 0 30889 gtex_brain_putamen_basal
rs4640941 7 73245103 CLDN4 ENSG00000189143.8 1.117E-6 0 31231 gtex_brain_putamen_basal
rs4458741 7 73245179 CLDN4 ENSG00000189143.8 4.14E-7 0 31307 gtex_brain_putamen_basal
rs8629 7 73245519 CLDN4 ENSG00000189143.8 3.365E-7 0 31647 gtex_brain_putamen_basal
rs1127155 7 73246461 CLDN4 ENSG00000189143.8 5.145E-7 0 32589 gtex_brain_putamen_basal
rs1127156 7 73246496 CLDN4 ENSG00000189143.8 3.365E-7 0 32624 gtex_brain_putamen_basal
rs11316 7 73246555 CLDN4 ENSG00000189143.8 8.911E-7 0 32683 gtex_brain_putamen_basal
rs9691413 7 73247204 CLDN4 ENSG00000189143.8 3.365E-7 0 33332 gtex_brain_putamen_basal
rs6968360 7 73247732 CLDN4 ENSG00000189143.8 5.145E-7 0 33860 gtex_brain_putamen_basal
rs7786850 7 73248572 CLDN4 ENSG00000189143.8 3.504E-7 0 34700 gtex_brain_putamen_basal
rs4286826 7 73248586 CLDN4 ENSG00000189143.8 3.455E-7 0 34714 gtex_brain_putamen_basal
rs4473910 7 73248662 CLDN4 ENSG00000189143.8 3.365E-7 0 34790 gtex_brain_putamen_basal
rs13246460 7 73249165 CLDN4 ENSG00000189143.8 3.365E-7 0 35293 gtex_brain_putamen_basal
rs13232463 7 73249299 CLDN4 ENSG00000189143.8 3.365E-7 0 35427 gtex_brain_putamen_basal
rs1989670 7 73251919 CLDN4 ENSG00000189143.8 4.047E-7 0 38047 gtex_brain_putamen_basal
rs4484569 7 73252900 CLDN4 ENSG00000189143.8 3.365E-7 0 39028 gtex_brain_putamen_basal
rs4304218 7 73252980 CLDN4 ENSG00000189143.8 8.911E-7 0 39108 gtex_brain_putamen_basal
rs7811711 7 73253100 CLDN4 ENSG00000189143.8 3.365E-7 0 39228 gtex_brain_putamen_basal
rs7811317 7 73253107 CLDN4 ENSG00000189143.8 3.365E-7 0 39235 gtex_brain_putamen_basal
rs13247441 7 73253143 CLDN4 ENSG00000189143.8 3.365E-7 0 39271 gtex_brain_putamen_basal
rs10282443 7 73253243 CLDN4 ENSG00000189143.8 3.365E-7 0 39371 gtex_brain_putamen_basal
rs10252756 7 73253270 CLDN4 ENSG00000189143.8 5.145E-7 0 39398 gtex_brain_putamen_basal
rs13223593 7 73253772 CLDN4 ENSG00000189143.8 3.365E-7 0 39900 gtex_brain_putamen_basal
rs13241921 7 73254812 CLDN4 ENSG00000189143.8 3.279E-7 0 40940 gtex_brain_putamen_basal
rs13242043 7 73254910 CLDN4 ENSG00000189143.8 8.874E-7 0 41038 gtex_brain_putamen_basal
rs4333464 7 73255165 CLDN4 ENSG00000189143.8 3.247E-7 0 41293 gtex_brain_putamen_basal
rs4314544 7 73255252 CLDN4 ENSG00000189143.8 3.236E-7 0 41380 gtex_brain_putamen_basal
rs4717823 7 73255647 CLDN4 ENSG00000189143.8 8.908E-7 0 41775 gtex_brain_putamen_basal
rs10276377 7 73256838 CLDN4 ENSG00000189143.8 3.107E-7 0 42966 gtex_brain_putamen_basal
rs10233067 7 73256920 CLDN4 ENSG00000189143.8 3.107E-7 0 43048 gtex_brain_putamen_basal
rs7809965 7 73257901 CLDN4 ENSG00000189143.8 3.057E-7 0 44029 gtex_brain_putamen_basal
rs201658367 7 73258086 CLDN4 ENSG00000189143.8 1.474E-7 0 44214 gtex_brain_putamen_basal
rs11763367 7 73258087 CLDN4 ENSG00000189143.8 1.507E-7 0 44215 gtex_brain_putamen_basal
rs1073909 7 73258289 CLDN4 ENSG00000189143.8 3.968E-7 0 44417 gtex_brain_putamen_basal
rs10225983 7 73258750 CLDN4 ENSG00000189143.8 2.785E-7 0 44878 gtex_brain_putamen_basal
rs4301345 7 73259935 CLDN4 ENSG00000189143.8 3.01E-7 0 46063 gtex_brain_putamen_basal
rs9647786 7 73260670 CLDN4 ENSG00000189143.8 8.934E-7 0 46798 gtex_brain_putamen_basal
rs10234724 7 73261247 CLDN4 ENSG00000189143.8 2.944E-7 0 47375 gtex_brain_putamen_basal
rs13221434 7 73261817 CLDN4 ENSG00000189143.8 5.567E-7 0 47945 gtex_brain_putamen_basal
rs4994790 7 73263375 CLDN4 ENSG00000189143.8 2.018E-7 0 49503 gtex_brain_putamen_basal
rs7804928 7 73264227 CLDN4 ENSG00000189143.8 4.651E-7 0 50355 gtex_brain_putamen_basal
rs4717110 7 73265100 CLDN4 ENSG00000189143.8 4.619 e - 0 51228 gtex_brain_putamen_basal
rs4717111 7 73265177 CLDN4 ENSG00000189143.8 4.26E-7 0 51305 gtex_brain_putamen_basal
rs4717112 7 73265417 CLDN4 ENSG00000189143.8 4.604E-7 0 51545 gtex_brain_putamen_basal
rs10271009 7 73266246 CLDN4 ENSG00000189143.8 4.562E-7 0 52374 gtex_brain_putamen_basal
rs36133747 7 73266323 CLDN4 ENSG00000189143.8 4.533E-7 0 52451 gtex_brain_putamen_basal
rs34946565 7 73266502 CLDN4 ENSG00000189143.8 7.443E-7 0 52630 gtex_brain_putamen_basal
rs4341060 7 73267473 CLDN4 ENSG00000189143.8 1.459E-6 0 53601 gtex_brain_putamen_basal
rs4327742 7 73267726 CLDN4 ENSG00000189143.8 2.935E-6 0 53854 gtex_brain_putamen_basal
rs6949053 7 73269937 CLDN4 ENSG00000189143.8 1.797E-6 0 56065 gtex_brain_putamen_basal
rs11764412 7 73272904 CLDN4 ENSG00000189143.8 3.222E-6 0 59032 gtex_brain_putamen_basal
rs4717826 7 73273361 CLDN4 ENSG00000189143.8 1.352E-6 0 59489 gtex_brain_putamen_basal
rs4324825 7 73275396 CLDN4 ENSG00000189143.8 2.726E-6 0 61524 gtex_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
Gene Pearson's Correlation Spearman's Correlation
ABCA8 0.84 0.81
PIP5K2A 0.84 0.76
KIF13B 0.83 0.74
ERMN 0.83 0.67
NPC1 0.83 0.77
PLD1 0.82 0.81
C10orf90 0.82 0.71
ANLN 0.82 0.74
ENPP2 0.82 0.68
FOLH1 0.82 0.67
Top 10 negatively co-expressed genes
Gene Pearson'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 function 去的术语 Evidence Neuro keywords PubMed ID
GO:0004888 transmembrane receptor activity TAS 9334247
GO:0005198 structural molecule activity IEA -
GO:0042802 identical protein binding ISS -
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0009405 pathogenesis TAS 9334247
GO:0016338 calcium-independent cell-cell adhesion ISS -
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0005923 tight junction ISS Brain (GO term level: 10) -
GO:0005886 plasma membrane TAS 9334247|9892664
GO:0005887 integral to plasma membrane TAS 9334247
GO:0030054 cell junction IEA -

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
KEGG CELL ADHESION MOLECULES CAMS 134 93 All SZGR 2.0 genes in this pathway
KEGG TIGHT JUNCTION 134 86 All SZGR 2.0 genes in this pathway
KEGG LEUKOCYTE TRANSENDOTHELIAL MIGRATION 118 78 All SZGR 2.0 genes in this pathway
REACTOME CELL CELL COMMUNICATION 120 77 All SZGR 2.0 genes in this pathway
REACTOME CELL CELL JUNCTION ORGANIZATION 56 31 All SZGR 2.0 genes in this pathway
REACTOME TIGHT JUNCTION INTERACTIONS 29 11 All SZGR 2.0 genes in this pathway
REACTOME CELL JUNCTION ORGANIZATION 78 43 All SZGR 2.0 genes in this pathway
CHEMNITZ RESPONSE TO PROSTAGLANDIN E2 DN 391 222 All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL UP 450 256 All SZGR 2.0 genes in this pathway
RODRIGUES NTN1 TARGETS DN 158 102 All SZGR 2.0 genes in this pathway
NAGASHIMA NRG1 SIGNALING UP 176 123 All SZGR 2.0 genes in this pathway
COLDREN GEFITINIB RESISTANCE DN 230 115 All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE UP 530 342 All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 1 DN 378 231 All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 4 5WK UP 271 175 All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL TGFB1 TARGETS DN 62 44 All SZGR 2.0 genes in this pathway
MUELLER METHYLATED IN GLIOBLASTOMA 40 22 All SZGR 2.0 genes in this pathway
RASHI RESPONSE TO IONIZING RADIATION 2 127 92 All SZGR 2.0 genes in this pathway
LI AMPLIFIED IN LUNG CANCER 178 108 All SZGR 2.0 genes in this pathway
AIYAR COBRA1 TARGETS DN 29 18 All SZGR 2.0 genes in this pathway
MAINA HYPOXIA VHL TARGETS UP 6 5 All SZGR 2.0 genes in this pathway
MAINA VHL TARGETS DN 18 14 All SZGR 2.0 genes in this pathway
JAZAG TGFB1 SIGNALING VIA SMAD4 DN 66 38 All SZGR 2.0 genes in this pathway
WATTEL AUTONOMOUS THYROID ADENOMA DN 55 29 All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 48HR UP 487 286 All SZGR 2.0 genes in this pathway
WU CELL MIGRATION 184 114 All SZGR 2.0 genes in this pathway
ONDER CDH1 TARGETS 2 DN 464 276 All SZGR 2.0 genes in this pathway
SHEPARD CRUSH AND BURN MUTANT UP 197 110 All SZGR 2.0 genes in this pathway
ZUCCHI METASTASIS DN 44 29 All SZGR 2.0 genes in this pathway
SWEET KRAS TARGETS UP 84 51 All SZGR 2.0 genes in this pathway
HALMOS CEBPA TARGETS DN 46 26 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 14HR DN 298 200 All SZGR 2.0 genes in this pathway
YAMAZAKI TCEB3 TARGETS DN 215 132 All SZGR 2.0 genes in this pathway
DAZARD RESPONSE TO UV NHEK UP 244 151 All SZGR 2.0 genes in this pathway
WANG CISPLATIN RESPONSE AND XPC UP 202 115 All SZGR 2.0 genes in this pathway
DAZARD UV RESPONSE CLUSTER G2 30 18 All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 5 482 296 All SZGR 2.0 genes in this pathway
YEGNASUBRAMANIAN PROSTATE CANCER 128 60 All SZGR 2.0 genes in this pathway
HUPER BREAST BASAL VS LUMINAL DN 59 44 All SZGR 2.0 genes in this pathway
HAN SATB1 TARGETS UP 395 249 All SZGR 2.0 genes in this pathway
ELLWOOD MYC TARGETS DN 40 27 All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3 UNMETHYLATED 536 296 All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K27ME3 269 159 All SZGR 2.0 genes in this pathway
COULOUARN TEMPORAL TGFB1 SIGNATURE UP 109 68 All SZGR 2.0 genes in this pathway
YAMASHITA LIVER CANCER STEM CELL UP 47 38 All SZGR 2.0 genes in this pathway
MIKKELSEN MEF HCP WITH H3K27ME3 590 403 All SZGR 2.0 genes in this pathway
DAZARD UV RESPONSE CLUSTER G24 28 19 All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 1HR DN 222 147 All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 24HR DN 505 328 All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 UP 430 288 All SZGR 2.0 genes in this pathway
DELPUECH FOXO3 TARGETS UP 68 49 All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3 824 528 All SZGR 2.0 genes in this pathway
KOHOUTEK CCNT1 TARGETS 50 26 All SZGR 2.0 genes in this pathway
MALIK REPRESSED BY ESTROGEN 12 10 All SZGR 2.0 genes in this pathway
RAO BOUND BY SALL4 ISOFORM B 517 302 All SZGR 2.0 genes in this pathway
LIM MAMMARY STEM CELL DN 428 246 All SZGR 2.0 genes in this pathway
ZWANG CLASS 3 TRANSIENTLY INDUCED BY EGF 222 159 All SZGR 2.0 genes in this pathway