Gene Page: ERC1

Summary ?
GeneID23085
SymbolERC1
SynonymsCast2|ELKS|ERC-1|RAB6IP2
DescriptionELKS/RAB6-interacting/CAST family member 1
ReferenceMIM:607127|HGNC:HGNC:17072|Ensembl:ENSG00000082805|HPRD:06181|Vega:OTTHUMG00000130138
Gene typeprotein-coding
Map location12p13.3
Pascal p-value0.408
Sherlock p-value0.847
Fetal beta1.322
eGeneMyers' cis & trans
SupportPROTEIN CLUSTERING
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 1 

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs16829545chr2151977407ERC1230850.14trans

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 bindingIPI12391317 |12923177 
GO:0043522leucine zipper domain bindingNAS15218148 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006355regulation of transcription, DNA-dependentNAS15218148 
GO:0007252I-kappaB phosphorylationIDA15218148 
GO:0007275multicellular organismal developmentNAS15218148 
GO:0051092positive regulation of NF-kappaB transcription factor activityTAS15218148 
GO:0015031protein transportIEA-
GO:0045768positive regulation of anti-apoptosisTAS15218148 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0042734presynaptic membraneTASneuron, axon, Synap (GO term level: 5)12391317 
GO:0000139Golgi membraneIEA-
GO:0005794Golgi apparatusIEA-
GO:0005737cytoplasmTAS15218148 
GO:0008385IkappaB kinase complexIDA15218148 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
PID NFKAPPAB CANONICAL PATHWAY 2320All SZGR 2.0 genes in this pathway
PID IL1 PATHWAY 3428All SZGR 2.0 genes in this pathway
KORKOLA SEMINOMA UP 4427All SZGR 2.0 genes in this pathway
ONKEN UVEAL MELANOMA DN 526357All SZGR 2.0 genes in this pathway
ZHOU INFLAMMATORY RESPONSE FIMA UP 544308All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND DOXORUBICIN DN 770415All SZGR 2.0 genes in this pathway
SCHEIDEREIT IKK INTERACTING PROTEINS 5845All SZGR 2.0 genes in this pathway
SILIGAN BOUND BY EWS FLT1 FUSION 4734All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN 855609All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS DN 848527All SZGR 2.0 genes in this pathway
LIU COMMON CANCER GENES 7947All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 48HR DN 428306All SZGR 2.0 genes in this pathway
GENTILE UV LOW DOSE DN 6746All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 1 528324All SZGR 2.0 genes in this pathway
LEIN CEREBELLUM MARKERS 8547All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS UP 673430All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS DN 593372All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS DN 591366All SZGR 2.0 genes in this pathway
GRESHOCK CANCER COPY NUMBER UP 323240All SZGR 2.0 genes in this pathway
TERAO AOX4 TARGETS SKIN UP 3827All SZGR 2.0 genes in this pathway
FORTSCHEGGER PHF8 TARGETS DN 784464All SZGR 2.0 genes in this pathway