Gene Page: KCNQ5

Summary ?
GeneID56479
SymbolKCNQ5
SynonymsKv7.5
Descriptionpotassium voltage-gated channel subfamily Q member 5
ReferenceMIM:607357|HGNC:HGNC:6299|Ensembl:ENSG00000185760|HPRD:16241|Vega:OTTHUMG00000015020
Gene typeprotein-coding
Map location6q14
Pascal p-value9.065E-4
Fetal beta-0.297
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
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:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGC128Genome-wide Association StudyA multi-stage schizophrenia GWAS of up to 36,989 cases and 113,075 controls. Reported by the Schizophrenia Working Group of PGC. 128 independent associations spanning 108 loci
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophreniasClick to show details
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 1 
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.217 

Section I. Genetics and epigenetics annotation

@CV:PGC128

SNP IDChromosomePositionAllelePFunctionGeneUp/Down Distance
rs1339227chr673155701TC6.86E-8intergenicRIMS1,KCNQ5dist=42856;dist=175870

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
KCNQ5chr673839517ACNM_001160130
NM_001160132
NM_001160132
NM_001160133
NM_001160133
NM_001160134
NM_019842		.
.
p.408K>Q
.
p.417K>Q
.
.		intronic
splice
missense
splice
missense
intronic
intronic		SchizophreniaDNM:Fromer_2014


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
AK70.900.55
WDR660.880.63
C10orf790.880.45
AC079354.20.880.55
WDR630.870.36
WDR520.870.53
DNAH30.870.35
TCTEX1D10.870.36
C3orf250.860.43
RP11-282K6.10.860.54
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
ENHO-0.20-0.28
DUSP1-0.20-0.26
OLFM2-0.19-0.30
RPS10-0.19-0.38
HYAL2-0.18-0.39
AC136932.2-0.18-0.27
AC008629.2-0.18-0.20
IMPA2-0.18-0.30
PLAC9-0.17-0.13
SIGIRR-0.17-0.32

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005242inward rectifier potassium channel activityTAS10787416 
GO:0005244voltage-gated ion channel activityIEA-
GO:0030955potassium ion bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007268synaptic transmissionTASneuron, Synap, Neurotransmitter (GO term level: 6)10787416 
GO:0006461protein complex assemblyNAS10787416 
GO:0006811ion transportIEA-
GO:0006813potassium ion transportIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0016020membraneIEA-
GO:0016021integral to membraneIEA-
GO:0008076voltage-gated potassium channel complexTAS10787416 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
REACTOME NEURONAL SYSTEM 279221All SZGR 2.0 genes in this pathway
REACTOME VOLTAGE GATED POTASSIUM CHANNELS 4332All SZGR 2.0 genes in this pathway
REACTOME POTASSIUM CHANNELS 9868All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION UP 1278748All SZGR 2.0 genes in this pathway
SHETH LIVER CANCER VS TXNIP LOSS PAM4 261153All SZGR 2.0 genes in this pathway
BENPORATH EED TARGETS 1062725All SZGR 2.0 genes in this pathway
BENPORATH ES WITH H3K27ME3 1118744All SZGR 2.0 genes in this pathway
SAFFORD T LYMPHOCYTE ANERGY 8754All SZGR 2.0 genes in this pathway
BILD MYC ONCOGENIC SIGNATURE 206117All SZGR 2.0 genes in this pathway
BONCI TARGETS OF MIR15A AND MIR16 1 9175All SZGR 2.0 genes in this pathway
BREDEMEYER RAG SIGNALING NOT VIA ATM DN 5734All SZGR 2.0 genes in this pathway
BOYLAN MULTIPLE MYELOMA PCA3 UP 8054All SZGR 2.0 genes in this pathway
TORCHIA TARGETS OF EWSR1 FLI1 FUSION DN 321200All SZGR 2.0 genes in this pathway
ACEVEDO FGFR1 TARGETS IN PROSTATE CANCER MODEL DN 308187All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-13536421Ahsa-miR-135aUAUGGCUUUUUAUUCCUAUGUGA
hsa-miR-135bUAUGGCUUUUCAUUCCUAUGUG
miR-15/16/195/424/4974344401Ahsa-miR-15abrainUAGCAGCACAUAAUGGUUUGUG
hsa-miR-16brainUAGCAGCACGUAAAUAUUGGCG
hsa-miR-15bbrainUAGCAGCACAUCAUGGUUUACA
hsa-miR-195SZUAGCAGCACAGAAAUAUUGGC
hsa-miR-424CAGCAGCAAUUCAUGUUUUGAA
hsa-miR-497CAGCAGCACACUGUGGUUUGU
miR-19042491A,m8hsa-miR-190UGAUAUGUUUGAUAUAUUAGGU
miR-5034344401Ahsa-miR-503UAGCAGCGGGAACAGUUCUGCAG