Summary ?
GeneID59349
SymbolKLHL12
SynonymsC3IP1|DKIR
Descriptionkelch like family member 12
ReferenceMIM:614522|HGNC:HGNC:19360|Ensembl:ENSG00000117153|HPRD:13925|Vega:OTTHUMG00000041385
Gene typeprotein-coding
Map location1q32.1
Sherlock p-value0.341
Fetal beta-0.684
DMG1 (# studies)

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
DMG:Jaffe_2016Genome-wide DNA methylation analysisThis dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 1
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.01 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg044622091202896493KLHL122.18E-8-0.0117.35E-6DMG:Jaffe_2016


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 bindingIPI16189514 |16713569 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006511ubiquitin-dependent protein catabolic processIEA-
GO:0016055Wnt receptor signaling pathwayIEA-

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ARAFA-RAF | ARAF1 | PKS2 | RAFA1v-raf murine sarcoma 3611 viral oncogene homologTwo-hybridBioGRID16189514 
BAT3BAG-6 | BAG6 | D6S52E | G3HLA-B associated transcript 3Two-hybridBioGRID16189514 
COL8A1C3orf7 | MGC9568collagen, type VIII, alpha 1Two-hybridBioGRID16189514 
CPSF6CFIM | CFIM68 | HPBRII-4 | HPBRII-7cleavage and polyadenylation specific factor 6, 68kDaTwo-hybridBioGRID16189514 
DVL3KIAA0208dishevelled, dsh homolog 3 (Drosophila)Two-hybridBioGRID16189514 
KLHL12C3IP1 | DKIR | FLJ27152kelch-like 12 (Drosophila)Two-hybridBioGRID16189514 
KLHL2ABP-KELCH | MAV | MAYVENkelch-like 2, Mayven (Drosophila)Two-hybridBioGRID16189514 
LNX1LNX | MPDZ | PDZRN2ligand of numb-protein X 1Two-hybridBioGRID16189514 
MED281500003D12Rik | DKFZp434N185 | EG1 | magicinmediator complex subunit 28Two-hybridBioGRID16189514 
NDC80HEC | HEC1 | KNTC2 | TID3 | hsNDC80NDC80 homolog, kinetochore complex component (S. cerevisiae)Two-hybridBioGRID16189514 
PRR13DKFZp564J157 | FLJ23818 | TXR1proline rich 13Two-hybridBioGRID16189514 
SNX20MGC35578 | SLIC-1 | SLIC1sorting nexin 20Two-hybridBioGRID16189514 
VTA1C6orf55 | DRG-1 | DRG1 | FLJ27228 | HSPC228 | LIP5 | My012 | SBP1Vps20-associated 1 homolog (S. cerevisiae)Two-hybridBioGRID16189514 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
PID WNT CANONICAL PATHWAY 2018All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA DN 1375806All SZGR 2.0 genes in this pathway
RICKMAN TUMOR DIFFERENTIATED WELL VS POORLY UP 236139All SZGR 2.0 genes in this pathway
DOUGLAS BMI1 TARGETS DN 314188All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER UP 973570All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP 863514All SZGR 2.0 genes in this pathway
GRADE COLON CANCER UP 871505All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA CHEMOTAXIS UP 7445All SZGR 2.0 genes in this pathway
LU EZH2 TARGETS DN 414237All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-495118111871Ahsa-miR-495brainAAACAAACAUGGUGCACUUCUUU