Basic information

Full name
SH2 domain containing 1A
Ensembl
ENSG00000183918.17
Summary
This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Protein product

  • ENST00000371139.9 Primary ENSP00000360181.5 (0 phosphosite)
  • ENST00000360027.4
  • ENST00000477673.2
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
RNA0.54-1.3e-22--0.014-8.8e-5-7.7e-6--0.37-
protein0.01-1.5e-13--0.39-0.03-0.091-0.013-0.58

* 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
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC012345678910log2(RSEM+1)tumornormal
Protein expression
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC13141516171819202122232425log2(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

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC05101520253035400-5-10-15-20-25-30-35-40Pan-cancer0204060801001201401601802002200-20-40-60-80-100-120-140-160-180-200-220proteinRNASCNVclinicalpathwaycell 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 SH2D1A with phenotypes and mutations

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Signed p-values
Phenotype
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
xcell: T cell CD8+ central memory6.8e-1032.8e-171.2e-240.027-3.5e-251.4e-204.9e-120.0351.6e-209.2e-9
ESTIMATE: ImmuneScore5.7e-872.2e-162.2e-160.023-2.2e-162.2e-162.2e-160.0351.4e-82.2e-16
HALLMARK_ALLOGRAFT_REJECTION1.1e-852.2e-162.2e-165.7e-3-2.2e-162.2e-162.2e-160.231.8e-82.2e-16
xcell: immune score1.8e-832.2e-162.2e-160.026-2.2e-162.2e-162.2e-160.0271.2e-52.2e-16
xcell: Myeloid dendritic cell activated2.2e-786.9e-162.2e-165.7e-3-2.5e-174e-153.8e-100.0253.9e-73.3e-13
xcell: T cell CD8+5.6e-751.2e-93.4e-190.1-1.4e-162.7e-172.3e-100.0687.1e-169.3e-8
cibersort: T cell CD8+2.8e-732.2e-162.2e-160.33-8.3e-152.1e-122.2e-80.362.2e-161.2e-13
xcell: T cell CD4+ memory3.6e-703.1e-154.4e-70.011-8.9e-225e-114.2e-80.0272.2e-171.2e-7
xcell: microenvironment score2.9e-662.2e-167.7e-90.078-2.2e-162.2e-162.2e-167.7e-31.8e-35.9e-8
PROGENy: Trail1.9e-652.2e-162.2e-160.29-2.2e-162.2e-161.6e-70.0231.1e-83.9e-5
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 SH2D1A

BRCA0.82-0.25-0.20proteinmRNASCNVmethylationCCRCC0.83-0.13-0.10proteinmRNASCNVmethylationCOAD0.630.06-0.04proteinmRNASCNVmethylationGBM-0.02proteinmRNASCNVmethylationHNSCC0.88-0.12-0.06proteinmRNASCNVmethylationLSCC0.89-0.28-0.35proteinmRNASCNVmethylationLUAD0.72-0.05-0.16proteinmRNASCNVmethylationOV0.570.000.16proteinmRNASCNVmethylationPDAC0.830.120.02proteinmRNASCNVmethylationUCEC0.850.03-0.03proteinmRNASCNVmethylation

* 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 SH2D1A 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.