Details for: SH2D1A

Gene ID: 4068

Symbol: SH2D1A

Ensembl ID: ENSG00000183918

Description: SH2 domain containing 1A

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 84.0592
    Cell Significance Index: -13.0800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 49.8337
    Cell Significance Index: -12.6400
  • Cell Name: hepatic pit cell (CL2000054)
    Fold Change: 14.4501
    Cell Significance Index: 38.7100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 10.6249
    Cell Significance Index: -13.1000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 3.9793
    Cell Significance Index: -10.6600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 3.3242
    Cell Significance Index: -10.2100
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 2.8397
    Cell Significance Index: 43.9400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.8169
    Cell Significance Index: 53.3600
  • Cell Name: DN1 thymic pro-T cell (CL0000894)
    Fold Change: 0.6935
    Cell Significance Index: 7.1900
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: 0.0399
    Cell Significance Index: 0.4000
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 0.0287
    Cell Significance Index: 0.2800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0124
    Cell Significance Index: 0.6300
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.0017
    Cell Significance Index: -0.0200
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: -0.0125
    Cell Significance Index: -0.1300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0131
    Cell Significance Index: -9.7200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0132
    Cell Significance Index: -0.5400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0153
    Cell Significance Index: -0.3900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0156
    Cell Significance Index: -9.7200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0168
    Cell Significance Index: -12.7000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0171
    Cell Significance Index: -9.6500
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: -0.0202
    Cell Significance Index: -0.1100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0215
    Cell Significance Index: -9.5100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0234
    Cell Significance Index: -12.7800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0464
    Cell Significance Index: -9.7800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0569
    Cell Significance Index: -9.7100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0667
    Cell Significance Index: -13.3800
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.0704
    Cell Significance Index: -1.0300
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: -0.0713
    Cell Significance Index: -0.9700
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.0733
    Cell Significance Index: -1.2500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0831
    Cell Significance Index: -14.9800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0836
    Cell Significance Index: -9.8600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0846
    Cell Significance Index: -9.6900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0865
    Cell Significance Index: -11.0900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0914
    Cell Significance Index: -12.5500
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0915
    Cell Significance Index: -3.9800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1155
    Cell Significance Index: -14.2000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1197
    Cell Significance Index: -15.4700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1359
    Cell Significance Index: -9.6100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1384
    Cell Significance Index: -14.1400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1531
    Cell Significance Index: -7.2000
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: -0.1617
    Cell Significance Index: -1.7200
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.1845
    Cell Significance Index: -3.1800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1910
    Cell Significance Index: -14.6600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2081
    Cell Significance Index: -15.5100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2161
    Cell Significance Index: -13.6200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2185
    Cell Significance Index: -13.4300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2193
    Cell Significance Index: -3.1400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2224
    Cell Significance Index: -5.9500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2235
    Cell Significance Index: -13.7000
  • Cell Name: T cell (CL0000084)
    Fold Change: -0.2278
    Cell Significance Index: -2.6900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2444
    Cell Significance Index: -15.7700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2626
    Cell Significance Index: -14.7400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2751
    Cell Significance Index: -14.2900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2798
    Cell Significance Index: -14.6900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2939
    Cell Significance Index: -15.3100
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: -0.2953
    Cell Significance Index: -2.8000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.3351
    Cell Significance Index: -15.1900
  • Cell Name: mature T cell (CL0002419)
    Fold Change: -0.3446
    Cell Significance Index: -2.4800
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: -0.3464
    Cell Significance Index: -2.7000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3540
    Cell Significance Index: -12.4000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3575
    Cell Significance Index: -16.6700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.3620
    Cell Significance Index: -13.2900
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.3912
    Cell Significance Index: -9.4800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3934
    Cell Significance Index: -12.8800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4027
    Cell Significance Index: -12.8300
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: -0.4120
    Cell Significance Index: -3.9600
  • Cell Name: alpha-beta T cell (CL0000789)
    Fold Change: -0.4203
    Cell Significance Index: -3.5800
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    Fold Change: -0.4408
    Cell Significance Index: -3.7200
  • Cell Name: CD4-positive, alpha-beta T cell (CL0000624)
    Fold Change: -0.4554
    Cell Significance Index: -4.2600
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: -0.4605
    Cell Significance Index: -4.4200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4755
    Cell Significance Index: -15.2300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.4986
    Cell Significance Index: -13.1100
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: -0.5094
    Cell Significance Index: -2.1200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.5146
    Cell Significance Index: -13.7900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.5194
    Cell Significance Index: -15.3000
  • Cell Name: monocyte-derived dendritic cell (CL0011031)
    Fold Change: -0.5233
    Cell Significance Index: -8.9900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.5370
    Cell Significance Index: -11.2400
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.5372
    Cell Significance Index: -13.4000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.5393
    Cell Significance Index: -15.4600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.5400
    Cell Significance Index: -14.4200
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.5414
    Cell Significance Index: -11.3000
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.5669
    Cell Significance Index: -14.1600
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.5740
    Cell Significance Index: -14.6300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.5754
    Cell Significance Index: -13.8000
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.5899
    Cell Significance Index: -12.5200
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.6048
    Cell Significance Index: -12.0600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.6063
    Cell Significance Index: -13.1000
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.6157
    Cell Significance Index: -7.7800
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.6228
    Cell Significance Index: -15.5300
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.6234
    Cell Significance Index: -8.7500
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.6310
    Cell Significance Index: -12.4200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.6521
    Cell Significance Index: -17.7500
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.6557
    Cell Significance Index: -12.9700
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: -0.6560
    Cell Significance Index: -5.8400
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.6765
    Cell Significance Index: -15.6300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.6844
    Cell Significance Index: -13.7400
  • Cell Name: exhausted T cell (CL0011025)
    Fold Change: -0.6951
    Cell Significance Index: -5.6700
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.7077
    Cell Significance Index: -14.4000
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.7195
    Cell Significance Index: -8.9000
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.7329
    Cell Significance Index: -14.3300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** SH2D1A is a gene that belongs to the SH2 domain-containing family of proteins. The protein encoded by this gene contains a SH2 domain, which is a conserved motif involved in protein-protein interactions. SH2D1A is specifically expressed in immune cells, including T cells and natural killer cells, and is involved in the regulation of immune responses. The gene is also involved in the regulation of negative regulation of T cell receptor signaling pathway and positive regulation of natural killer cell mediated cytotoxicity. **Pathways and Functions:** SH2D1A is involved in several key pathways, including: 1. **Adaptive Immune Response**: SH2D1A plays a crucial role in the regulation of the adaptive immune response by modulating the activity of T cells and natural killer cells. 2. **Cell-cell Signaling**: SH2D1A is involved in the regulation of cell-cell signaling, particularly in the interaction between lymphoid and non-lymphoid cells. 3. **Cytokine Signaling**: SH2D1A is involved in the regulation of cytokine signaling, particularly in the regulation of T cell receptor signaling pathway. 4. **Natural Killer Cell Mediated Cytotoxicity**: SH2D1A is involved in the regulation of natural killer cell mediated cytotoxicity, which is essential for the elimination of infected cells and tumor cells. **Clinical Significance:** Dysregulation of SH2D1A has been implicated in several immune-related disorders, including: 1. **Autoimmune Diseases**: SH2D1A is involved in the regulation of immune responses, and its dysregulation has been implicated in autoimmune diseases such as rheumatoid arthritis and lupus. 2. **Cancer**: SH2D1A is involved in the regulation of natural killer cell mediated cytotoxicity, and its dysregulation has been implicated in cancer. 3. **Immunodeficiency Disorders**: SH2D1A is involved in the regulation of immune responses, and its dysregulation has been implicated in immunodeficiency disorders such as HIV-1 infection. In conclusion, SH2D1A is a gene that plays a crucial role in the regulation of the adaptive immune response. Its dysregulation has been implicated in several immune-related disorders, highlighting its importance in maintaining immune homeostasis. Further research is needed to fully understand the role of SH2D1A in the immune system and its potential as a therapeutic target for immune-related disorders.

Genular Protein ID: 777081637

Symbol: SH21A_HUMAN

Name: SH2 domain-containing protein 1A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9771704

Title: Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.

PubMed ID: 9771704

DOI: 10.1038/2424

PubMed ID: 9774102

Title: The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM.

PubMed ID: 9774102

DOI: 10.1038/26683

PubMed ID: 11282995

Title: Decreased expression of signaling lymphocytic-activation molecule-associated protein (SAP) transcripts in T cells from patients with rheumatoid arthritis.

PubMed ID: 11282995

DOI: 10.1093/intimm/13.4.559

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11389028

Title: Cell surface receptors Ly-9 and CD84 recruit the X-linked lymphoproliferative disease gene product SAP.

PubMed ID: 11389028

DOI: 10.1182/blood.v97.12.3867

PubMed ID: 11806999

Title: Molecular dissection of the signaling and costimulatory functions of CD150 (SLAM): CD150/SAP binding and CD150-mediated costimulation.

PubMed ID: 11806999

DOI: 10.1182/blood.v99.3.957

PubMed ID: 12115647

Title: CD84 is up-regulated on a major population of human memory B cells and recruits the SH2 domain containing proteins SAP and EAT-2.

PubMed ID: 12115647

DOI: 10.1002/1521-4141(200206)32:6<1640::aid-immu1640>3.0.co;2-s

PubMed ID: 12458214

Title: Dual functional roles for the X-linked lymphoproliferative syndrome gene product SAP/SH2D1A in signaling through the signaling lymphocyte activation molecule (SLAM) family of immune receptors.

PubMed ID: 12458214

DOI: 10.1074/jbc.m206649200

PubMed ID: 12545173

Title: Binding of SAP SH2 domain to FynT SH3 domain reveals a novel mechanism of receptor signalling in immune regulation.

PubMed ID: 12545173

DOI: 10.1038/ncb919

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21219180

Title: SLAM family receptors and SAP adaptors in immunity.

PubMed ID: 21219180

DOI: 10.1146/annurev-immunol-030409-101302

PubMed ID: 10549287

Title: Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition.

PubMed ID: 10549287

DOI: 10.1016/s1097-2765(00)80206-3

PubMed ID: 11823424

Title: A 'three-pronged' binding mechanism for the SAP/SH2D1A SH2 domain: structural basis and relevance to the XLP syndrome.

PubMed ID: 11823424

DOI: 10.1093/emboj/21.3.314

PubMed ID: 12545174

Title: SAP couples Fyn to SLAM immune receptors.

PubMed ID: 12545174

DOI: 10.1038/ncb920

PubMed ID: 10598819

Title: SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients.

PubMed ID: 10598819

DOI: 10.1007/s004390051137

PubMed ID: 11049992

Title: Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease.

PubMed ID: 11049992

PubMed ID: 11034354

Title: Defective NK cell activation in X-linked lymphoproliferative disease.

PubMed ID: 11034354

DOI: 10.4049/jimmunol.165.7.3549

PubMed ID: 11493483

Title: SH2D1A mutations in Japanese males with severe Epstein-Barr virus-associated illnesses.

PubMed ID: 11493483

DOI: 10.1182/blood.v98.4.1268

PubMed ID: 11477068

Title: Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients.

PubMed ID: 11477068

DOI: 10.1074/jbc.m101305200

PubMed ID: 14674764

Title: Disease-causing SAP mutants are defective in ligand binding and protein folding.

PubMed ID: 14674764

DOI: 10.1021/bi034798l

PubMed ID: 14583885

Title: Fatal hemophagocytic lymphohistiocytosis associated with Epstein-Barr virus infection in a patient with a novel mutation in the signaling lymphocytic activation molecule-associated protein.

PubMed ID: 14583885

DOI: 10.1086/379126

PubMed ID: 15841490

Title: Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease.

PubMed ID: 15841490

DOI: 10.1002/humu.9339

PubMed ID: 16720617

Title: Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP.

PubMed ID: 16720617

DOI: 10.1093/intimm/dxl039

PubMed ID: 21119115

Title: Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).

PubMed ID: 21119115

DOI: 10.1182/blood-2010-07-298372

Sequence Information:

  • Length: 128
  • Mass: 14187
  • Checksum: 90234E7A6614EE3D
  • Sequence:
  • MDAVAVYHGK ISRETGEKLL LATGLDGSYL LRDSESVPGV YCLCVLYHGY IYTYRVSQTE 
    TGSWSAETAP GVHKRYFRKI KNLISAFQKP DQGIVIPLQY PVEKKSSARS TQGTTGIRED 
    PDVCLKAP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.