Gene Page: SMAD5

Summary ?
GeneID4090
SymbolSMAD5
SynonymsDWFC|JV5-1|MADH5
DescriptionSMAD family member 5
ReferenceMIM:603110|HGNC:HGNC:6771|Ensembl:ENSG00000113658|HPRD:04381|Vega:OTTHUMG00000163212
Gene typeprotein-coding
Map location5q31
Pascal p-value0.549
Sherlock p-value0.658
Fetal beta0.933
eGeneMyers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
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: 0.0032 
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
rs4366501chr11133380324SMAD540900.14trans
rs7308874chr1242027869SMAD540900.05trans

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:0005057receptor signaling protein activityNAS8673135 
GO:0003700transcription factor activityIEA-
GO:0005515protein bindingIEA-
GO:0016563transcription activator activityNAS10708949 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006355regulation of transcription, DNA-dependentIEA-
GO:0006350transcriptionIEA-
GO:0007165signal transductionNAS9759503 
GO:0007179transforming growth factor beta receptor signaling pathwayNAS10708948 
GO:0009880embryonic pattern specificationISS-
GO:0030509BMP signaling pathwayEXP15621726 
GO:0030509BMP signaling pathwayISS-
GO:0030218erythrocyte differentiationIEA-
GO:0045944positive regulation of transcription from RNA polymerase II promoterIEA-
GO:0060048cardiac muscle contractionIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005829cytosolEXP9436979 |17356069 
GO:0005622intracellularNAS9759503 
GO:0005634nucleusNAS9759503 
GO:0005654nucleoplasmEXP11121043 
GO:0005667transcription factor complexIEA-
GO:0005737cytoplasmIEA-
GO:0016021integral to membraneNAS10708949 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG TGF BETA SIGNALING PATHWAY 8664All SZGR 2.0 genes in this pathway
BIOCARTA ALK PATHWAY 3729All SZGR 2.0 genes in this pathway
BIOCARTA CTCF PATHWAY 2318All SZGR 2.0 genes in this pathway
PID BMP PATHWAY 4231All SZGR 2.0 genes in this pathway
PID ALK1 PATHWAY 2621All SZGR 2.0 genes in this pathway
PID ALK2 PATHWAY 119All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY BMP 2315All SZGR 2.0 genes in this pathway
TURASHVILI BREAST NORMAL DUCTAL VS LOBULAR UP 6840All SZGR 2.0 genes in this pathway
BORCZUK MALIGNANT MESOTHELIOMA UP 305185All SZGR 2.0 genes in this pathway
HORIUCHI WTAP TARGETS DN 310188All SZGR 2.0 genes in this pathway
WANG LMO4 TARGETS UP 372227All SZGR 2.0 genes in this pathway
OSMAN BLADDER CANCER UP 404246All SZGR 2.0 genes in this pathway
GINESTIER BREAST CANCER 20Q13 AMPLIFICATION UP 11966All SZGR 2.0 genes in this pathway
SENESE HDAC3 TARGETS UP 501327All SZGR 2.0 genes in this pathway
KOKKINAKIS METHIONINE DEPRIVATION 48HR DN 6439All SZGR 2.0 genes in this pathway
KOKKINAKIS METHIONINE DEPRIVATION 96HR UP 11784All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
LOPEZ MBD TARGETS 957597All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 48HR DN 428306All SZGR 2.0 genes in this pathway
POMEROY MEDULLOBLASTOMA DESMOPLASIC VS CLASSIC UP 6238All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546351All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT OK VS DONOR UP 555346All SZGR 2.0 genes in this pathway
MA MYELOID DIFFERENTIATION UP 3929All SZGR 2.0 genes in this pathway
DEBIASI APOPTOSIS BY REOVIRUS INFECTION UP 314201All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 16911088All SZGR 2.0 genes in this pathway
DAZARD RESPONSE TO UV NHEK DN 318220All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS STEM CELL AND PROGENITOR 681420All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 6HR DN 160101All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS UP 673430All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS UP 602364All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS UP 601369All SZGR 2.0 genes in this pathway
MATZUK EMBRYONIC GERM CELL 1916All SZGR 2.0 genes in this pathway
MALONEY RESPONSE TO 17AAG DN 7945All SZGR 2.0 genes in this pathway
YAMASHITA LIVER CANCER STEM CELL UP 4738All SZGR 2.0 genes in this pathway
BAE BRCA1 TARGETS DN 3227All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 1HR DN 222147All SZGR 2.0 genes in this pathway
CHICAS RB1 TARGETS SENESCENT 572352All SZGR 2.0 genes in this pathway
PANGAS TUMOR SUPPRESSION BY SMAD1 AND SMAD5 UP 13485All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 DN 918550All SZGR 2.0 genes in this pathway
PEDRIOLI MIR31 TARGETS UP 221120All SZGR 2.0 genes in this pathway
SMIRNOV RESPONSE TO IR 6HR UP 16697All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-124/50618951901m8hsa-miR-506UAAGGCACCCUUCUGAGUAGA
hsa-miR-124brainUAAGGCACGCGGUGAAUGCC
miR-130/301846852m8hsa-miR-130abrainCAGUGCAAUGUUAAAAGGGCAU
hsa-miR-301CAGUGCAAUAGUAUUGUCAAAGC
hsa-miR-130bbrainCAGUGCAAUGAUGAAAGGGCAU
hsa-miR-454-3pUAGUGCAAUAUUGCUUAUAGGGUUU
miR-135518051871A,m8hsa-miR-135aUAUGGCUUUUUAUUCCUAUGUGA
hsa-miR-135bUAUGGCUUUUCAUUCCUAUGUG
miR-15/16/195/424/497788794m8hsa-miR-15abrainUAGCAGCACAUAAUGGUUUGUG
hsa-miR-16brainUAGCAGCACGUAAAUAUUGGCG
hsa-miR-15bbrainUAGCAGCACAUCAUGGUUUACA
hsa-miR-195SZUAGCAGCACAGAAAUAUUGGC
hsa-miR-424CAGCAGCAAUUCAUGUUUUGAA
hsa-miR-497CAGCAGCACACUGUGGUUUGU
miR-17-5p/20/93.mr/106/519.d848854m8hsa-miR-17-5pCAAAGUGCUUACAGUGCAGGUAGU
hsa-miR-20abrainUAAAGUGCUUAUAGUGCAGGUAG
hsa-miR-106aAAAAGUGCUUACAGUGCAGGUAGC
hsa-miR-106bSZUAAAGUGCUGACAGUGCAGAU
hsa-miR-20bSZCAAAGUGCUCAUAGUGCAGGUAG
hsa-miR-519dCAAAGUGCCUCCCUUUAGAGUGU
miR-19845851m8hsa-miR-19aUGUGCAAAUCUAUGCAAAACUGA
hsa-miR-19bUGUGCAAAUCCAUGCAAAACUGA
miR-224632638m8hsa-miR-224CAAGUCACUAGUGGUUCCGUUUA
miR-54417m8hsa-miR-544AUUCUGCAUUUUUAGCAAGU