Gene Information
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Gene Name
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SH2D1A |
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Gene ID
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4068
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Gene Full Name
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SH2 domain containing 1A |
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Gene Alias
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DSHP|EBVS|IMD5|LYP|MTCP1|SAP|SAP/SH2D1A|XLP|XLPD|XLPD1 |
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Transcripts
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ENSG00000183918
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Virus
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HBV |
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Gene Type
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protein-coding |
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HPA Location Info
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Cytosol;
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Membrane Info
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Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins |
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Uniport_ID
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O60880
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HGNC ID
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HGNC:10820
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OMIM ID
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300490 |
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Summary
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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] |
Target gene [SH2D1A] related to VISs
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 1017306 |
chrX |
0 |
1 |
0 |
1 |
View |
Target gene [SH2D1A] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
S GSE252863
|
scRNA-seq |
10 |
Illumina HiSeq 2500 (Homo sapiens) |
|
GSE236281
|
RNA-seq |
12 |
Illumina MiSeq (Homo sapiens) |
|
C GSE35465
|
Chip-seq;RNA-seq |
6 |
Illumina HiSeq 2000 (Homo sapiens) |
|
C GSE68402
|
Chip-seq |
26 |
Illumina MiSeq (Homo sapiens);Illumina HiSeq 2500 (Homo sapiens) |
|
GSE247322
|
scRNA-seq |
27 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
TCGA_LIHC_HBV
|
DNA methylation sequencing;RNA-seq |
97 |
TCGA |
|
GSE224901
|
RNA-seq |
21 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
C GSE100400
|
Chip-seq;RNA-seq;4C_cccDNA |
31 |
Illumina NextSeq 500 (Homo sapiens);Illumina NextSeq 500 (Mus musculus) |
|
GSE173897
|
RNA-seq |
95 |
Illumina HiSeq 4000 (Homo sapiens) |
|
GSE262515
|
RNA-seq |
21 |
Illumina HiSeq 2500 (Homo sapiens);Illumina HiSeq 2500 (Mus musculus) |
|
GSE110345
|
RNA-seq |
4 |
Illumina HiSeq 2500 (Homo sapiens) |
|
C GSE131257
|
ATAC-seq;RNA-seq |
19 |
Illumina HiSeq 2500 (Homo sapiens) |
|
GSE94660
|
RNA-seq |
42 |
Illumina HiSeq 2500 (Homo sapiens) |
When the query gene is differentially changed in the dataset, a feature/violin plot will be displayed.
> Dataset: GSE252863 - Gene expression in cell subsets
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