SH2D1A - SH2 domain containing 1A Gene
Also Known as LYP; SAP; XLP; DSHP; EBVS; IMD5; XLPD; MTCP1; XLPD1; SAP/SH2D1A
Species: Homo sapiens
About SH2D1A
This gene has 16 transcripts (splice variants), 199 orthologues, 13 paralogues and is associated with 2 phenotypes. Biased expression in lymph node (RPKM 17.0), spleen (RPKM 6.1) and 7 other tissues.
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]
SH2D1A Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001114937.3 | NP_001108409.1 | SH2 domain-containing protein 1A isoform 2 |
| NM_002351.5 | NP_002342.1 | SH2 domain-containing protein 1A isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
9774102 | GOA |
| enables protein-macromolecule adaptor activity |
IDA
IDA: Inferred from direct assay
|
15713798 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in natural killer cell activation |
IDA
IDA: Inferred from direct assay
|
15713798 | GOA |
| involved in negative regulation of T cell receptor signaling pathway |
IDA
IDA: Inferred from direct assay
|
9774102 | GOA |
| involved in regulation of immune response |
IMP
IMP: Inferred from mutant phenotype
|
9774102 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
9774102 | GOA |
SH2D1A Protein Structure
SH2: SH2 domain (7 - 86)
- 0
- 100
- 128 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
SH2 domain-containing protein 1A |
|
SH2D1A Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SH2D1A | O60880 | MET | Homo sapiens | P08581 | 24728074 | |
|
Intra
|
SH2D1A | O60880 | CD247 | Homo sapiens | P20963 | 22912825 | |
|
Intra
|
SH2D1A | O60880 | TNK2 | Homo sapiens | Q07912-2 | 25910212 | |
|
Intra
|
SH2D1A | O60880 | TNK2 | Homo sapiens | Q07912-2 | 25910212 | |
|
Intra
|
SH2D1A | O60880 | TNK2 | Homo sapiens | Q07912-2 | 25910212 | |
|
Intra
|
SH2D1A | O60880 | LHX3 | Homo sapiens | Q9UBR4-2 | 32296183 | |
|
Intra
|
SH2D1A | O60880 | LHX3 | Homo sapiens | Q9UBR4-2 | 32296183 | |
|
Intra
|
SH2D1A | O60880 | LHX3 | Homo sapiens | Q9UBR4-2 | 32296183 | |
|
Intra
|
SH2D1A | O60880 | SLAMF6 | Homo sapiens | Q96DU3 | 16920955 | |
|
Intra
|
SH2D1A | O60880 | SLAMF6 | Homo sapiens | Q96DU3 | 24688028 | |
|
Intra
|
SH2D1A | O60880 | SLAMF6 | Homo sapiens | Q96DU3 | 22912825 | |
|
Intra
|
SH2D1A | O60880 | CD244 | Homo sapiens | Q9BZW8 | 23346089 | |
|
Intra
|
SH2D1A | O60880 | CD244 | Homo sapiens | Q9BZW8 | 16920955 | |
|
Intra
|
SH2D1A | O60880 | LHX4 | Homo sapiens | Q969G2 | 25910212 | |
|
Intra
|
SH2D1A | O60880 | LHX4 | Homo sapiens | Q969G2 | 25910212 | |
|
Intra
|
SH2D1A | O60880 | LHX4 | Homo sapiens | Q969G2 | 25910212 | |
|
Intra
|
SH2D1A | O60880 | LHX4 | Homo sapiens | Q969G2 | 25416956 | |
|
Intra
|
SH2D1A | O60880 | LHX4 | Homo sapiens | Q969G2 | 25416956 | |
|
Intra
|
SH2D1A | O60880 | SLAMF1 | Homo sapiens | Q13291 | 10607564 | |
|
Intra
|
SH2D1A | O60880 | SLAMF1 | Homo sapiens | Q13291 | 14674764 | |
|
Intra
|
SH2D1A | O60880 | SLAMF1 | Homo sapiens | Q13291 | 9774102 | |
|
Intra
|
SH2D1A | O60880 | SLAMF1 | Homo sapiens | Q13291 | 10549287 | |
|
Intra
|
SH2D1A | O60880 | SLAMF1 | Homo sapiens | Q13291 | 11806999 | |
|
Intra
|
SH2D1A | O60880 | SLAMF1 | Homo sapiens | Q13291 | 11477068 | |
|
Intra
|
SH2D1A | O60880 | SLAMF1 | Homo sapiens | Q13291 | 11389028 | |
|
Intra
|
SH2D1A | O60880 | SLAMF1 | Homo sapiens | Q13291 | 12225753 | |
|
Intra
|
SH2D1A | O60880 | TNK2 | Homo sapiens | Q07912 | 25416956 | |
|
Intra
|
SH2D1A | O60880 | TNK2 | Homo sapiens | Q07912 | 25416956 | |
|
Intra
|
SH2D1A | O60880 | SRC | Homo sapiens | P12931 | 32814053 | |
|
Intra
|
SH2D1A | O60880 | SRC | Homo sapiens | P12931 | 32814053 | |
|
Intra
|
SH2D1A | O60880 | SRC | Homo sapiens | P12931 | 32814053 | |
|
Intra
|
SH2D1A | O60880 | DDIT4L | Homo sapiens | Q96D03 | 32296183 | |
|
Intra
|
SH2D1A | O60880 | DDIT4L | Homo sapiens | Q96D03 | 32296183 | |
|
Intra
|
SH2D1A | O60880 | DDIT4L | Homo sapiens | Q96D03 | 32296183 | |
|
Intra
|
SH2D1A | O60880 | FOS | Homo sapiens | P01100 | 32814053 | |
|
Intra
|
SH2D1A | O60880 | FOS | Homo sapiens | P01100 | 32814053 | |
|
Intra
|
SH2D1A | O60880 | FOS | Homo sapiens | P01100 | 32814053 |
Recombinant SH2D1A Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P71038 | SH2D1A Protein, Human (His) | O60880 (M1-P128) | ≥ 95%, as determined by reducing SDS-PAGE. |
SH2D1A Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82205 | SH2D1A Antibody (YA1950) | WB | Human, Mouse, Rat |
| HY-P82205A | SH2D1A Antibody (YA1950)(PBS only) | WB | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
|
| Lymphoproliferative Syndrome |
|
|
| Dysgammaglobulinemia |
|
|
| Hemophagocytic Lymphohistiocytosis |
|
|
| Pfeiffer Syndrome |
|
|
| Selective Immunoglobulin Deficiency Disease |
|
|
| Lymphoma |
|
|
| Common Variable Immunodeficiency |
|
|
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
|
| Autoinflammatory Syndrome |
|
|
| Agammaglobulinemia |
|
|
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
|
| Burkitt Lymphoma |
|
|
| Candidiasis |
|
|
| Limbic Encephalitis |
|
|
| Meningoencephalitis |
|
|
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
|
| Familial Hemophagocytic Lymphohistiocytosis 5 |
|
|
| Immune Deficiency Disease |
|
|
| Cd40 Ligand Deficiency |
|
|
| Pancytopenia |
|
|
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
|
| Lymphoproliferative Syndrome 2 |
|
|
| Cd3zeta Deficiency |
|
|
| Vasculitis |
|
|
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
|
| Immunodeficiency 14 |
|
|
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
|
| Griscelli Syndrome |
|
|
| Griscelli Syndrome, Type 2 |
|
|
| Rheumatoid Arthritis |
|
|
| Immunodeficiency 7 |
|
|
| B Cell Deficiency |
|
|
| Arthritis |
|
|
| Lymphoma, Hodgkin, Classic |
|
|
| Chediak-Higashi Syndrome |
|
|
| Systemic Epstein-Barr Virus Positive T-Cell Lymphoma Of Childhood |
|
|
| Aplastic Anemia |
|
|
| Acute Hemorrhagic Encephalitis |
|
|
| Combined Immunodeficiency |
|
|
| Lymphoma, Non-Hodgkin, Familial |
|
|
| Autoimmune Lymphoproliferative Syndrome |
|
|
| Hermansky-Pudlak Syndrome |
|
|
| Epidermodysplasia Verruciformis 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | SH2D1A | MGD | MGI:1328352 |
| Bos taurus | SH2D1A | VGNC | VGNC:56954 |
| Canis familiaris | SH2D1A | VGNC | VGNC:54598 |
| Rattus norvegicus | SH2D1A | RGD | RGD:1562408 |
| Felis catus | SH2D1A | VGNC | VGNC:65091 |
| Macaca mulatta | SH2D1A | VGNC | VGNC:97828 |
| Others | SH2D1A | NCBI |