Identity
HGNC
LOCATION
Xq25
LOCUSID
ALIAS
DSHP,EBVS,IMD5,LYP,MTCP1,SAP,SAP/SH2D1A,XLP,XLPD,XLPD1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4068
MIM: 300490
HGNC: 10820
Ensembl: ENSG00000183918
Variants:
dbSNP: 4068
ClinVar: 4068
TCGA: ENSG00000183918
COSMIC: SH2D1A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000183918 | ENST00000360027 | O60880 |
| ENSG00000183918 | ENST00000371139 | O60880 |
| ENSG00000183918 | ENST00000477673 | O60880 |
| ENSG00000183918 | ENST00000647259 | A0A2R8Y573 |
Expression (GTEx)
Pathways
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166182763 | emapalumab | Chemical | LabelAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38550577 | 2024 | SAP-expressing T peripheral helper cells identify systemic lupus erythematosus patients with lupus nephritis. | 0 |
| 38550577 | 2024 | SAP-expressing T peripheral helper cells identify systemic lupus erythematosus patients with lupus nephritis. | 0 |
| 37858067 | 2023 | Overexpression of SH2D1A promotes cancer progression and is associated with immune cell infiltration in hepatocellular carcinoma via bioinformatics and in vitro study. | 3 |
| 37858067 | 2023 | Overexpression of SH2D1A promotes cancer progression and is associated with immune cell infiltration in hepatocellular carcinoma via bioinformatics and in vitro study. | 3 |
| 33829337 | 2021 | Epstein-Barr Virus-Negative Granulomatous Disease Due to SAP Deficiency. | 0 |
| 33987447 | 2021 | SLAM/SAP Decreased Follicular Regulatory T Cells in Patients with Graves' Disease. | 2 |
| 34987501 | 2021 | Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel SH2D1A Mutation. | 1 |
| 33829337 | 2021 | Epstein-Barr Virus-Negative Granulomatous Disease Due to SAP Deficiency. | 0 |
| 33987447 | 2021 | SLAM/SAP Decreased Follicular Regulatory T Cells in Patients with Graves' Disease. | 2 |
| 34987501 | 2021 | Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel SH2D1A Mutation. | 1 |
| 31951638 | 2020 | Functional characterization of NK cells in Mexican pediatric patients with acute lymphoblastic leukemia: Report from the Mexican Interinstitutional Group for the Identification of the Causes of Childhood Leukemia. | 16 |
| 31994322 | 2020 | Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease. | 4 |
| 32504780 | 2020 | SAP interacts with CD28 to inhibit PD-1 signaling in T lymphocytes. | 5 |
| 31951638 | 2020 | Functional characterization of NK cells in Mexican pediatric patients with acute lymphoblastic leukemia: Report from the Mexican Interinstitutional Group for the Identification of the Causes of Childhood Leukemia. | 16 |
| 31994322 | 2020 | Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease. | 4 |
Citation
Dessen P
SH2D1A (SH2 domain containing 1A)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/42282/sh2d1a
