Basic information

Full name
dematin actin binding protein
Ensembl
ENSG00000158856.18
Summary
The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing in the 3' coding region, where the headpiece domain is located. Disruption of this gene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozygosity of this gene is thought to play a role in prostate cancer progression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]

Protein product

  • ENST00000358242.5 Primary ENSP00000350977.3 (43 phosphosites)
  • ENST00000523266.5
  • ENST00000265800.9
  • ENST00000517305.4
  • ENST00000432128.5
  • ENST00000519907.5
  • ENST00000381470.7
  • ENST00000415253.5
  • ENST00000517600.5
  • ENST00000443491.6
  • ENST00000523782.6
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
RNA-6.4e-41--2.8e-13---1.9e-11-4.7e-15-1.3e-9--0.042-
protein-7.4e-90--0.029-1.6e-27--1.9e-19-4.6e-34-3.2e-34--4.0e-4-1.4e-3

* 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
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC23456789101112log2(RSEM+1)tumornormal
Protein expression
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC141516171819202122232425262728log2(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

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC02468101214160-2-4-6-8-10-12-14-16Pan-cancer0246810121416180-2-4-6-8-10-12-14-16-18proteinRNASCNVclinicalpathwaycell 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 DMTN 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_HEME_METABOLISM1.8e-181.7e-38.2e-70.721.2e-32.5e-41.1e-36.2e-5-0.30.008
xcell: Endothelial cell5.4e-90.050.180.0730.260.0552.8e-46.6e-4-0.270.22
DISEASE-PSP_Alzheimer's_disease9.9e-9---2.2e-16------0.92
HALLMARK_UV_RESPONSE_UP1.1e-80.126.3e-33.8e-30.340.0111.4e-40.61-0.320.25
PERT-PSP_EGF7.6e-83.9e-30.015-0.530.480.0030.425.8e-4-2.9e-30.59
xcell: Hematopoietic stem cell1.1e-70.650.0810.0270.0140.160.0114.2e-4-0.130.95
HALLMARK_MYOGENESIS3.7e-70.050.0550.0660.260.0730.010.12-0.0310.73
HALLMARK_ADIPOGENESIS8.7e-70.0490.0360.0520.20.220.180.01-0.460.11
PATH-NP_TIE2_PATHWAY7.7e-6----1.6e-50.022---0.25
PERT-PSP_PHORBOL_ESTER9.3e-6---0.860.512.2e-30.791.1e-3-3.9e-40.27
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 DMTN

BRCA0.240.050.19proteinmRNASCNVmethylationCCRCC0.440.430.58proteinmRNASCNVmethylationCOAD0.280.200.52proteinmRNASCNVmethylationGBM0.45-0.030.04proteinmRNASCNVmethylationHNSCC0.080.090.35proteinmRNASCNVmethylationLSCC0.080.200.30proteinmRNASCNVmethylationLUAD0.220.260.62proteinmRNASCNVmethylationOV0.61proteinmRNASCNVmethylationPDAC0.250.120.30proteinmRNASCNVmethylationUCEC0.430.030.23proteinmRNASCNVmethylation

* 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 DMTN 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.