Gene Page: PDZK1

Summary ?
GeneID5174
SymbolPDZK1
SynonymsCAP70|CLAMP|NHERF-3|NHERF3|PDZD1
DescriptionPDZ domain containing 1
ReferenceMIM:603831|HGNC:HGNC:8821|Ensembl:ENSG00000174827|HPRD:04829|Vega:OTTHUMG00000013735
Gene typeprotein-coding
Map location1q21
Fetal beta-0.435
eGeneCerebellum
Myers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CNV:YESCopy number variation studiesManual curation
CV:GWAScatGenome-wide Association StudiesThis data set includes 560 SNPs associated with schizophrenia. A total of 486 genes were mapped to these SNPs within 50kb.
CV:PGCnpGenome-wide Association StudyGWAS
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_IGenome scan meta-analysisPsr: 0.0235 
GSMA_IIAGenome scan meta-analysis (All samples)Psr: 0.00814 
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs1934584chr1245971711PDZK151740.05trans
rs16829545chr2151977407PDZK151741.663E-5trans
rs7584986chr2184111432PDZK151740.04trans
rs16878852chr427115684PDZK151740.01trans
rs17762315chr576807576PDZK151740.1trans
rs504430chr12129477364PDZK151740.18trans
rs10847737chr12129507602PDZK151740.07trans
rs16955618chr1529937543PDZK151749.479E-5trans

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.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005215transporter activityTAS9461128 
GO:0030165PDZ domain bindingIPI16236806 |16738539 
GO:0008022protein C-terminus bindingIPI15304510 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0008283cell proliferationTAS9461128 
GO:0015893drug transportNAS16738539 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005737cytoplasmIEA-
GO:0016020membraneIEA-

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ABCC2ABC30 | CMOAT | DJS | KIAA1010 | MRP2 | cMRPATP-binding cassette, sub-family C (CFTR/MRP), member 2-HPRD,BioGRID10496535 |12615054 
AKAP10D-AKAP2 | MGC9414 | PRKA10A kinase (PRKA) anchor protein 10-HPRD,BioGRID14531806 
CFTRABC35 | ABCC7 | CF | CFTR/MRP | MRP7 | TNR-CFTR | dJ760C5.1cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)-HPRD,BioGRID11051556 |12471024 
|12615054 
CLCN3CLC3 | ClC-3chloride channel 3-HPRD,BioGRID12471024 
FARP2FIR | FRG | KIAA0793 | PLEKHC3FERM, RhoGEF and pleckstrin domain protein 2Reconstituted Complex
Two-hybrid		BioGRID14531806 
GFAPFLJ45472glial fibrillary acidic proteinTwo-hybridBioGRID16189514 
PDZK1IP1DD96 | MAP17 | RP1-18D14.5 | SPAPPDZK1 interacting protein 1-HPRD,BioGRID9461128 |12754212 
|12837682 |14531806 
PEX5FLJ50634 | FLJ50721 | FLJ51948 | PTS1-BP | PTS1R | PXR1peroxisomal biogenesis factor 5Two-hybridBioGRID16189514 
SCARB1CD36L1 | CLA-1 | CLA1 | MGC138242 | SR-BI | SRB1scavenger receptor class B, member 1-HPRD,BioGRID10829064 |12119305 
|14551195 
SLC17A1MGC126794 | MGC126796 | NAPI-1 | NPT-1 | NPT1solute carrier family 17 (sodium phosphate), member 1-HPRD,BioGRID14531806 
SLC22A12OAT4L | RST | URAT1solute carrier family 22 (organic anion/urate transporter), member 12-HPRD,BioGRID14531806 
SLC22A4MGC34546 | MGC40524 | OCTN1solute carrier family 22 (organic cation/ergothioneine transporter), member 4Reconstituted Complex
Two-hybrid		BioGRID14531806 
SLC34A3FLJ38680 | HHRH | NPTIIcsolute carrier family 34 (sodium phosphate), member 3Reconstituted Complex
Two-hybrid		BioGRID14531806 
SLC9A3MGC126718 | MGC126720 | NHE3solute carrier family 9 (sodium/hydrogen exchanger), member 3-HPRD,BioGRID14531806 
SLC9A3R1EBP50 | NHERF | NHERF1 | NPHLOP2solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1Reconstituted Complex
Two-hybrid		BioGRID14531806 
SLC9A3R2E3KARP | MGC104639 | NHE3RF2 | NHERF-2 | NHERF2 | OCTS2 | SIP-1 | SIP1 | TKA-1solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2Two-hybridBioGRID14531806 
SLKKIAA0204 | LOSK | MGC133067 | STK2 | bA16H23.1 | se20-9STE20-like kinase (yeast)Reconstituted Complex
Two-hybrid		BioGRID14531806 
UBE2IC358B7.1 | P18 | UBC9ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)Two-hybridBioGRID14531806 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
BIOCARTA MTA3 PATHWAY 1910All SZGR 2.0 genes in this pathway
TURASHVILI BREAST DUCTAL CARCINOMA VS DUCTAL NORMAL DN 198110All SZGR 2.0 genes in this pathway
TURASHVILI BREAST DUCTAL CARCINOMA VS LOBULAR NORMAL DN 6943All SZGR 2.0 genes in this pathway
TURASHVILI BREAST LOBULAR CARCINOMA VS DUCTAL NORMAL DN 9153All SZGR 2.0 genes in this pathway
TURASHVILI BREAST LOBULAR CARCINOMA VS LOBULAR NORMAL UP 9459All SZGR 2.0 genes in this pathway
SAMOLS TARGETS OF KHSV MIRNAS DN 6235All SZGR 2.0 genes in this pathway
DOANE BREAST CANCER ESR1 UP 11272All SZGR 2.0 genes in this pathway
WANG LMO4 TARGETS UP 372227All SZGR 2.0 genes in this pathway
TIEN INTESTINE PROBIOTICS 6HR DN 167100All SZGR 2.0 genes in this pathway
SABATES COLORECTAL ADENOMA DN 291176All SZGR 2.0 genes in this pathway
ELVIDGE HYPOXIA DN 14694All SZGR 2.0 genes in this pathway
ELVIDGE HYPOXIA BY DMOG DN 5940All SZGR 2.0 genes in this pathway
GOZGIT ESR1 TARGETS DN 781465All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER BASAL VS LULMINAL 330215All SZGR 2.0 genes in this pathway
SCHLOSSER SERUM RESPONSE DN 712443All SZGR 2.0 genes in this pathway
KORKOLA YOLK SAC TUMOR 6233All SZGR 2.0 genes in this pathway
MOHANKUMAR TLX1 TARGETS UP 414287All SZGR 2.0 genes in this pathway
FRASOR RESPONSE TO ESTRADIOL UP 3728All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546351All SZGR 2.0 genes in this pathway
BECKER TAMOXIFEN RESISTANCE DN 5237All SZGR 2.0 genes in this pathway
STOSSI RESPONSE TO ESTRADIOL 5035All SZGR 2.0 genes in this pathway
JIANG HYPOXIA CANCER 8352All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 1 528324All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 4 307185All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS DN 292189All SZGR 2.0 genes in this pathway
MASSARWEH TAMOXIFEN RESISTANCE DN 258160All SZGR 2.0 genes in this pathway
MASSARWEH RESPONSE TO ESTRADIOL 6147All SZGR 2.0 genes in this pathway
MASRI RESISTANCE TO TAMOXIFEN AND AROMATASE INHIBITORS UP 2010All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL DN 701446All SZGR 2.0 genes in this pathway
BONOME OVARIAN CANCER SURVIVAL OPTIMAL DEBULKING 246152All SZGR 2.0 genes in this pathway
CADWELL ATG16L1 TARGETS UP 9356All SZGR 2.0 genes in this pathway
POOLA INVASIVE BREAST CANCER DN 13483All SZGR 2.0 genes in this pathway
CAIRO HEPATOBLASTOMA UP 207143All SZGR 2.0 genes in this pathway
LI INDUCED T TO NATURAL KILLER UP 307182All SZGR 2.0 genes in this pathway
CHICAS RB1 TARGETS SENESCENT 572352All SZGR 2.0 genes in this pathway
HOELZEL NF1 TARGETS UP 13993All SZGR 2.0 genes in this pathway
OHGUCHI LIVER HNF4A TARGETS DN 14985All SZGR 2.0 genes in this pathway
BHAT ESR1 TARGETS NOT VIA AKT1 UP 211131All SZGR 2.0 genes in this pathway
BHAT ESR1 TARGETS VIA AKT1 UP 281183All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP C 9260All SZGR 2.0 genes in this pathway
VANDESLUIS COMMD1 TARGETS GROUP 3 UP 8950All SZGR 2.0 genes in this pathway
FORTSCHEGGER PHF8 TARGETS DN 784464All SZGR 2.0 genes in this pathway
ACEVEDO FGFR1 TARGETS IN PROSTATE CANCER MODEL DN 308187All SZGR 2.0 genes in this pathway