Basic information

Full name
kelch like family member 12
Ensembl
ENSG00000117153.16
Summary
This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Protein product

Phosphosites on the primary protein product
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Tumor and normal comparison

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Signed p-values
Data type
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
RNA2.8e-43-3.7e-5--0.168.3e-284.3e-30-0.003-
protein0.022--0.78--0.670.0497.9e-7---0.054

* P-values are from Wilcoxon rank sum test and can be clicked to show the box plots. Positive values mean higher abundance in tumor. BRCA and GBM do not have normal samples.

mRNA expression at gene level
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC99.51010.51111.51212.513log2(RSEM+1)tumornormal
Protein expression
BRCACCRCCGBMHNSCCLSCCLUADPDACUCEC1314151617181920212223log2(MS1 intensity)tumornormal

* Mild outlier: filled circle; Extreme outlier: empty circle.

Phenotype and mutation association

Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC01234567891011120-1-2-3-4-5-6-7-8-9-10-11-12Pan-cancer02468101214161820220-2-4-6-8-10-12-14-16-18-20-22proteinRNASCNVclinicalpathwaycell typegenomicmutation-log10 of P-value

* Data points of significant associations above and below the dotted lines can be hovered to show the phenotype.

Associations of the protein abundance of KLHL12 with phenotypes and mutations

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Signed p-values
Phenotype
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
HALLMARK_MYC_TARGETS_V21.1e-60.0620.14--0.80.178.9e-90.14--0.760.016
HALLMARK_DNA_REPAIR7.4e-60.247.5e-3--0.620.42.8e-80.14--0.730.071
HALLMARK_MTORC1_SIGNALING2.5e-50.590.03-0.020.450.0460.14-0.170.2
PERT-PSP_NOCODAZOLE8.6e-50.026-0.74-0.150.0390.0230.014-0.390.91
KINASE-PSP_CDK15.8e-40.023-0.25-0.620.0760.0270.077-10.085
HALLMARK_OXIDATIVE_PHOSPHORYLATION7.5e-4-0.960.012-0.170.241.5e-5-0.74-0.47-0.85
HALLMARK_UV_RESPONSE_UP8.5e-40.12-0.94-0.0110.20.960.28-0.30.052
KINASE-PSP_ERK2/MAPK11.2e-38.7e-3-0.74-0.32.6e-40.160.22--0.86-0.82
PERT-P100-DIA_VORINOSTAT1.4e-3---1.4e-3------
HALLMARK_MYC_TARGETS_V12.2e-30.180.87--0.50.111.2e-40.16-0.970.35
Showing 1 to 10 of 256 rows

* P-values could be from test for Spearman correlation, Wilcoxon rank sum test, Jonckheere-Terpstra trend test or Cox regression depending on the data type. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Cis-association

Associations between omics data of KLHL12

BRCA-0.020.030.58proteinmRNASCNVmethylationCCRCC0.36-0.230.15-0.010.33-0.19proteinmRNASCNVmethylationCOAD0.53proteinmRNASCNVmethylationGBM0.10-0.090.20-0.200.43-0.16proteinmRNASCNVmethylationHNSCC-0.070.02-0.05-0.310.63-0.28proteinmRNASCNVmethylationLSCC0.460.010.140.050.55-0.16proteinmRNASCNVmethylationLUAD0.200.070.020.010.670.03proteinmRNASCNVmethylationOV0.58proteinmRNASCNVmethylationPDAC0.610.60-0.090.57-0.05proteinmRNASCNVmethylationUCEC0.27-0.200.19-0.370.55-0.45proteinmRNASCNVmethylation

* The numbers are Spearman correlation coefficients and can be clicked to show the scatter plots. The color and size of the circles correlate with the coefficients.

Trans-association

Associations of the protein abundance of KLHL12 and the protein abundance of other genes

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Signed p-values
Gene
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
No matching records found

* P-values are from test for Spearman correlation. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Gene set enrichment analysis

Submit genes and the common logarithm of the p-values of their association with to WebGestalt.