Gene Page: GEMIN4

Summary ?
GeneID50628
SymbolGEMIN4
SynonymsHC56|HCAP1|HHRF-1|p97
Descriptiongem nuclear organelle associated protein 4
ReferenceMIM:606969|HGNC:HGNC:15717|Ensembl:ENSG00000179409|HPRD:07370|Vega:OTTHUMG00000177495
Gene typeprotein-coding
Map location17p13
Pascal p-value0.089
Sherlock p-value0.235
Fetal beta0.833
DMG1 (# studies)
eGeneMeta
SupportAscano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:vanEijk_2014Genome-wide DNA methylation analysisThis dataset includes 432 differentially methylated CpG sites corresponding to 391 unique transcripts between schizophrenia patients (n=260) and unaffected controls (n=250). 1
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,schizophreniasClick to show details
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.0086 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg1098154117636487GEMIN41.373E-43.861DMG:vanEijk_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.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005515protein bindingIPI11714716 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0000387spliceosomal snRNP biogenesisEXP15130578 
GO:0006397mRNA processingIEA-
GO:0008380RNA splicingIEA-
GO:0006364rRNA processingTAS10725331 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005829cytosolEXP10531003 
GO:0005634nucleusIEA-
GO:0005654nucleoplasmEXP10531003 
GO:0005681spliceosomeIEA-
GO:0005730nucleolusTAS10725331 
GO:0005737cytoplasmTAS10725331 
GO:0030532small nuclear ribonucleoprotein complexTAS10725331 

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ARS2ASR2 | MGC126427arsenate resistance protein 2HCAP1 interacts with ARS2BIND12869526 
BRF2BRFU | FLJ11052 | TFIIIB50BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-likeAffinity Capture-MSBioGRID17353931 
CALCOCO2MGC17318 | NDP52calcium binding and coiled-coil domain 2HCAP1 interacts with NDP52BIND12869526 
CDK4CMM3 | MGC14458 | PSK-J3cyclin-dependent kinase 4Affinity Capture-MSBioGRID17353931 
DDX20DKFZp434H052 | DP103 | GEMIN3DEAD (Asp-Glu-Ala-Asp) box polypeptide 20Affinity Capture-Western
Reconstituted Complex		BioGRID10725331 |11914277 
|12668731 
DHX9DDX9 | LKP | NDHII | RHADEAH (Asp-Glu-Ala-His) box polypeptide 9Affinity Capture-WesternBioGRID11149922 
EIF2C2AGO2 | MGC3183 | Q10eukaryotic translation initiation factor 2C, 2Affinity Capture-Western
Reconstituted Complex		BioGRID11914277 |14970384 
FBLFIB | FLRN | RNU3IP1fibrillarinAffinity Capture-WesternBioGRID11509230 
FIBPFGFIBP | FIBP-1fibroblast growth factor (acidic) intracellular binding proteinAffinity Capture-MSBioGRID17353931 
GAR1NOLA1GAR1 ribonucleoprotein homolog (yeast)Affinity Capture-WesternBioGRID11509230 
GEMIN5DKFZp586M1824 | MGC142174gem (nuclear organelle) associated protein 5-HPRD,BioGRID11714716 
GEMIN6FLJ23459gem (nuclear organelle) associated protein 6Affinity Capture-WesternBioGRID11748230 
GIPC1C19orf3 | GIPC | GLUT1CBP | Hs.6454 | IIP-1 | MGC15889 | MGC3774 | NIP | RGS19IP1 | SEMCAP | SYNECTIIN | SYNECTIN | TIP-2GIPC PDZ domain containing family, member 1Affinity Capture-MSBioGRID17353931 
GSK3B-glycogen synthase kinase 3 betaAffinity Capture-MSBioGRID17353931 
ILKDKFZp686F1765 | P59integrin-linked kinaseAffinity Capture-MSBioGRID17353931 
LGALS1DKFZp686E23103 | GAL1 | GBPlectin, galactoside-binding, soluble, 1-HPRD,BioGRID11522829 
LGALS3CBP35 | GAL3 | GALBP | GALIG | LGALS2 | MAC2lectin, galactoside-binding, soluble, 3-HPRD,BioGRID11522829 
MYCbHLHe39 | c-Mycv-myc myelocytomatosis viral oncogene homolog (avian)Affinity Capture-MSBioGRID17353931 
NFKBIL1IKBL | LST1 | NFKBILnuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1Affinity Capture-MSBioGRID17353931 
PIAS3FLJ14651 | ZMIZ5protein inhibitor of activated STAT, 3HCAP1 interacts with PIAS3BIND12869526 
PPP4CPP4 | PPH3 | PPXprotein phosphatase 4 (formerly X), catalytic subunitAffinity Capture-WesternBioGRID12668731 
PPP4R2MGC131930protein phosphatase 4, regulatory subunit 2Affinity Capture-MS
Affinity Capture-Western		BioGRID12668731 
RNPS1E5.1 | MGC117332RNA binding protein S1, serine-rich domainAffinity Capture-MSBioGRID17353931 
SMN1BCD541 | SMA | SMA1 | SMA2 | SMA3 | SMA4 | SMA@ | SMN | SMNT | T-BCD541survival of motor neuron 1, telomericAffinity Capture-Western
Co-fractionation
Co-purification		BioGRID10942426 |12668731 
SNRPBCOD | SNRPB1 | SmB/SmB' | snRNP-Bsmall nuclear ribonucleoprotein polypeptides B and B1Affinity Capture-MSBioGRID17353931 
SNRPBCOD | SNRPB1 | SmB/SmB' | snRNP-Bsmall nuclear ribonucleoprotein polypeptides B and B1-HPRD10725331 
SPRY1hSPRY1sprouty homolog 1, antagonist of FGF signaling (Drosophila)HCAP1 interacts with SPRY1BIND12869526 
STXBP3MUNC18-3 | MUNC18C | PSP | UNC-18Csyntaxin binding protein 3-HPRD12065586 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
REACTOME METABOLISM OF NON CODING RNA 4929All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF RNA 330155All SZGR 2.0 genes in this pathway
GARY CD5 TARGETS DN 431263All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
GARGALOVIC RESPONSE TO OXIDIZED PHOSPHOLIPIDS YELLOW DN 2315All SZGR 2.0 genes in this pathway
TIEN INTESTINE PROBIOTICS 24HR UP 557331All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION UP 1278748All SZGR 2.0 genes in this pathway
SCHLOSSER MYC TARGETS AND SERUM RESPONSE UP 4732All SZGR 2.0 genes in this pathway
DAIRKEE TERT TARGETS UP 380213All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN DN 584395All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 16521023All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS DN 1024594All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS DN 637377All SZGR 2.0 genes in this pathway
SAKAI TUMOR INFILTRATING MONOCYTES DN 8151All SZGR 2.0 genes in this pathway
HASLINGER B CLL WITH 17P13 DELETION 2115All SZGR 2.0 genes in this pathway
GALE APL WITH FLT3 MUTATED UP 5635All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR DN 911527All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR DN 1011592All SZGR 2.0 genes in this pathway
CHEN HOXA5 TARGETS 9HR DN 4117All SZGR 2.0 genes in this pathway
HAN SATB1 TARGETS UP 395249All SZGR 2.0 genes in this pathway
MARTENS TRETINOIN RESPONSE DN 841431All SZGR 2.0 genes in this pathway
WANG RESPONSE TO GSK3 INHIBITOR SB216763 DN 374217All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS DN 882538All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS DN 553343All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG BOUND 8D 658397All SZGR 2.0 genes in this pathway
SMIRNOV RESPONSE TO IR 6HR DN 11469All SZGR 2.0 genes in this pathway