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 it... See more...

Aliases for SH2D1A Gene

Aliases for SH2D1A Gene

  • SH2 Domain Containing 1A 2 3 5
  • DSHP 2 3 4
  • SAP 2 3 4
  • Signaling Lymphocytic Activation Molecule-Associated Protein 3 4
  • SH2 Domain-Containing Protein 1A 3 4
  • Duncan Disease SH2-Protein 3 4
  • SLAM-Associated Protein 3 4
  • MTCP1 2 3
  • EBVS 2 3
  • XLPD 2 3
  • XLP 2 3
  • Signaling Lymphocyte Activation Molecule-Associated Protein 3
  • SLAM Associated Protein/SH2 Domain Protein 1A 3
  • T Cell Signal Transduction Molecule SAP 3
  • T-Cell Signal Transduction Molecule SAP 4
  • Lymphoproliferative Syndrome 2
  • SH2 Domain Protein 1A 2
  • Duncan'S Disease 2
  • SAP/SH2D1A 3
  • SH2D1A 5
  • XLPD1 3
  • IMD5 3
  • LYP 3

External Ids for SH2D1A Gene

Previous HGNC Symbols for SH2D1A Gene

  • IMD5
  • LYP

Previous GeneCards Identifiers for SH2D1A Gene

  • GC0XP118197
  • GC0XP120373
  • GC0XP121432
  • GC0XP122177
  • GC0XP123205
  • GC0XP123307
  • GC0XP123480
  • GC0XP112860
  • GC0XP124346

Summaries for SH2D1A Gene

Entrez Gene Summary for SH2D1A Gene

  • 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]

GeneCards Summary for SH2D1A Gene

SH2D1A (SH2 Domain Containing 1A) is a Protein Coding gene. Diseases associated with SH2D1A include Lymphoproliferative Syndrome, X-Linked, 1 and Lymphoproliferative Syndrome. Among its related pathways are Immune response Role of DAP12 receptors in NK cells and Tyrosine Kinases / Adaptors. Gene Ontology (GO) annotations related to this gene include SH3/SH2 adaptor activity. An important paralog of this gene is SH2D1B.

UniProtKB/Swiss-Prot Summary for SH2D1A Gene

  • Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as SLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signaling seems to cooperate with SH2D1B/EAT-2. Initially it has been proposed that association with SLAMF1 prevents SLAMF1 binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2 (PubMed:11806999). However, by simultaneous interactions, recruits FYN which subsequently phosphorylates and activates SLAMF1 (PubMed:12458214). Positively regulates CD244/2B4- and CD84-mediated natural killer (NK) cell functions. Can also promote CD48-, SLAMF6 -, LY9-, and SLAMF7-mediated NK cell activation. In the context of NK cell-mediated cytotoxicity enhances conjugate formation with target cells (By similarity). May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3.

Gene Wiki entry for SH2D1A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SH2D1A Gene

Genomics for SH2D1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SH2D1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ124341 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 607.4 +117.8 117777 8.7 LEF1 IKZF1 DPF2 SOX6 TCF12 EP300 HMBOX1 EGR1 GATAD2A ZNF316 SH2D1A STAG2 RF01045-164 ENSG00000226532 TEX13D TENM1
GH0XJ124225 Enhancer 0.6 Ensembl ENCODE 600.7 -1.5 -1546 1.4 ZNF512 PRDM1 SCRT2 SH2D1A HSPA8P20 STAG2
GH0XJ124393 Enhancer 0.7 FANTOM5 Ensembl ENCODE dbSUPER 5.3 +168.0 168033 3.8 SH2D1A LOC105373331 RF00017-8694 TEX13D STAG2 TENM1
GH0XJ124215 Enhancer 1.2 VISTA FANTOM5 ENCODE 2.6 -10.2 -10178 4.9 ZNF512 PRDM1 SOX6 SOX13 POLR2A ZNF766 RUNX3 SUZ12 JUND ZNF366 SH2D1A HSPA8P20 STAG2
GH0XJ124229 Enhancer 0.8 Ensembl ENCODE 0.7 +2.7 2733 5.6 CTCF POLR2A NRF1 HMBOX1 RUNX3 ZNF316 MAFF MAFK MAFG JUNB SH2D1A TEX13D STAG2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SH2D1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SH2D1A

Top Transcription factor binding sites by QIAGEN in the SH2D1A gene promoter:
  • aMEF-2
  • AML1a
  • AP-1
  • ATF-2
  • Brachyury
  • c-Jun
  • MEF-2A
  • NF-kappaB
  • NF-kappaB1
  • Pax-3

Genomic Locations for SH2D1A Gene

Genomic Locations for SH2D1A Gene
chrX:124,227,868-124,373,197
(GRCh38/hg38)
Size:
145,330 bases
Orientation:
Plus strand
chrX:123,480,132-123,507,010
(GRCh37/hg19)
Size:
26,879 bases
Orientation:
Plus strand

Genomic View for SH2D1A Gene

Genes around SH2D1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH2D1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SH2D1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH2D1A Gene

Proteins for SH2D1A Gene

  • Protein details for SH2D1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60880-SH21A_HUMAN
    Recommended name:
    SH2 domain-containing protein 1A
    Protein Accession:
    O60880
    Secondary Accessions:
    • A8MSW0
    • O95383
    • O95384
    • O95385
    • O95386
    • Q6FGS6
    • Q9UNR0

    Protein attributes for SH2D1A Gene

    Size:
    128 amino acids
    Molecular mass:
    14187 Da
    Quaternary structure:
    • Interacts with NTRK1, NTRK2 and NTRK3 (By similarity). Interacts with CD84, CD244, LY9, SLAMF1 and FYN.

    Three dimensional structures from OCA and Proteopedia for SH2D1A Gene

    Alternative splice isoforms for SH2D1A Gene

neXtProt entry for SH2D1A Gene

Post-translational modifications for SH2D1A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SH2D1A Gene

No data available for DME Specific Peptides for SH2D1A Gene

Domains & Families for SH2D1A Gene

Gene Families for SH2D1A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SH2D1A Gene

InterPro:
Blocks:
  • SH2 domain signature
ProtoNet:

Suggested Antigen Peptide Sequences for SH2D1A Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ92177, Homo sapiens SH2 domain protein 1A, Duncan's disease(lymphoproliferative syndrome) (SH2D1A), mRNA (Q6FGS6_HUMAN)
  • T-cell signal transduction molecule SAP (SH21A_HUMAN)
genes like me logo Genes that share domains with SH2D1A: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SH2D1A Gene

Function for SH2D1A Gene

Molecular function for SH2D1A Gene

UniProtKB/Swiss-Prot Function:
Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as SLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signaling seems to cooperate with SH2D1B/EAT-2. Initially it has been proposed that association with SLAMF1 prevents SLAMF1 binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2 (PubMed:11806999). However, by simultaneous interactions, recruits FYN which subsequently phosphorylates and activates SLAMF1 (PubMed:12458214). Positively regulates CD244/2B4- and CD84-mediated natural killer (NK) cell functions. Can also promote CD48-, SLAMF6 -, LY9-, and SLAMF7-mediated NK cell activation. In the context of NK cell-mediated cytotoxicity enhances conjugate formation with target cells (By similarity). May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3.
GENATLAS Biochemistry:
SH2 domain protein 1A,15kDa,T cell specific SLAM (signaling lymphocyte-activation molecule)-associated protein,putative regulator of the signal transduction pathways initiated by interactions between the SLAM molecules at the interface between T and B cells

Gene Ontology (GO) - Molecular Function for SH2D1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005070 SH3/SH2 adaptor activity NAS --
GO:0005515 protein binding IPI 9774102
genes like me logo Genes that share ontologies with SH2D1A: view
genes like me logo Genes that share phenotypes with SH2D1A: view

Human Phenotype Ontology for SH2D1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SH2D1A Gene

MGI Knock Outs for SH2D1A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SH2D1A

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for SH2D1A Gene

Localization for SH2D1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SH2D1A Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SH2D1A gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 2
extracellular 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SH2D1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 9774102
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SH2D1A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SH2D1A Gene

Pathways & Interactions for SH2D1A Gene

genes like me logo Genes that share pathways with SH2D1A: view

Pathways by source for SH2D1A Gene

1 KEGG pathway for SH2D1A Gene
2 Cell Signaling Technology pathways for SH2D1A Gene

Gene Ontology (GO) - Biological Process for SH2D1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0006959 humoral immune response IEA --
GO:0006968 cellular defense response NAS 9774102
GO:0007267 cell-cell signaling IDA 9774102
genes like me logo Genes that share ontologies with SH2D1A: view

No data available for SIGNOR curated interactions for SH2D1A Gene

Drugs & Compounds for SH2D1A Gene

(6) Drugs for SH2D1A Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
emapalumab Approved, Investigational Pharma 0

(1) Additional Compounds for SH2D1A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SH2D1A: view

Transcripts for SH2D1A Gene

mRNA/cDNA for SH2D1A Gene

2 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SH2D1A

Alternative Splicing Database (ASD) splice patterns (SP) for SH2D1A Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d
SP1: -
SP2:
SP3: -
SP4: - -
SP5: -
SP6: - - - - -
SP7: -
SP8: - -

Relevant External Links for SH2D1A Gene

GeneLoc Exon Structure for
SH2D1A

Expression for SH2D1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SH2D1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SH2D1A Gene

This gene is overexpressed in Whole Blood (x15.3), Spleen (x7.2), and Esophagus - Muscularis (x5.1).

Protein differential expression in normal tissues from HIPED for SH2D1A Gene

This gene is overexpressed in CD8 Tcells (18.6), NK cells (13.8), Tlymphocyte (11.0), and Oral epithelium (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SH2D1A Gene



Protein tissue co-expression partners for SH2D1A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SH2D1A

SOURCE GeneReport for Unigene cluster for SH2D1A Gene:

Hs.349094

mRNA Expression by UniProt/SwissProt for SH2D1A Gene:

O60880-SH21A_HUMAN
Tissue specificity: Expressed at a high level in thymus and lung, with a lower level of expression in spleen and liver. Expressed in peripheral blood leukocytes, including T-lymphocytes. Tends to be expressed at lower levels in peripheral blood leukocytes in patients with rheumatoid arthritis.

Evidence on tissue expression from TISSUES for SH2D1A Gene

  • Lung(4.4)
  • Blood(3)
  • Lymph node(2.9)
  • Spleen(2.6)
  • Bone marrow(2.4)
  • Intestine(2)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SH2D1A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • lymphatic
  • nervous
  • respiratory
Regions:
Head and neck:
  • brain
  • ear
  • head
  • meninges
  • mouth
  • neck
  • pharynx
Thorax:
  • heart
Abdomen:
  • duodenum
  • intestine
  • liver
  • pancreas
  • small intestine
  • spleen
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • lymph node
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with SH2D1A: view

Orthologs for SH2D1A Gene

This gene was present in the common ancestor of chordates.

Orthologs for SH2D1A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SH2D1A 31
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SH2D1A 30 31
  • 93.49 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SH2D1A 30 31
  • 91.67 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sh2d1a 30
  • 87.57 (n)
Mouse
(Mus musculus)
Mammalia Sh2d1a 30 17 31
  • 85.98 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SH2D1A 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC100857869 30
  • 70.03 (n)
SH2D1A 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sh2d1a 30
  • 69.87 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.28871 30
Zebrafish
(Danio rerio)
Actinopterygii sh2d1ab 30 31
  • 63.24 (n)
OneToOne
Species where no ortholog for SH2D1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SH2D1A Gene

ENSEMBL:
Gene Tree for SH2D1A (if available)
TreeFam:
Gene Tree for SH2D1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SH2D1A: view image

Paralogs for SH2D1A Gene

(9) SIMAP similar genes for SH2D1A Gene using alignment to 4 proteins:

  • SH21A_HUMAN
  • K7XSE5_HUMAN
  • K7XXT7_HUMAN
  • K7YQB3_HUMAN
genes like me logo Genes that share paralogs with SH2D1A: view

Variants for SH2D1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SH2D1A Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
10902 Pathogenic: Lymphoproliferative syndrome 1, X-linked 124,365,760(+) G/T SPLICE_ACCEPTOR_VARIANT
10906 Pathogenic: Lymphoproliferative syndrome 1, X-linked 124,346,633(+) C/T FIVE_PRIME_UTR_VARIANT
724006 Likely Benign: not provided 124,370,325(+) GATTTCCTCTTA/G INTRON_VARIANT
748224 Likely Benign: Lymphoproliferative syndrome 1, X-linked 124,370,167(+) AT/A INTRON_VARIANT
837280 Uncertain Significance: Lymphoproliferative syndrome 1, X-linked 124,370,326(+) A/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SH2D1A Gene

Structural Variations from Database of Genomic Variants (DGV) for SH2D1A Gene

Variant ID Type Subtype PubMed ID
nsv1077244 CNV deletion 25765185

Variation tolerance for SH2D1A Gene

Residual Variation Intolerance Score: 51.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.05; 1.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SH2D1A Gene

Human Gene Mutation Database (HGMD)
SH2D1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SH2D1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH2D1A Gene

Disorders for SH2D1A Gene

MalaCards: The human disease database

(43) MalaCards diseases for SH2D1A Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SH21A_HUMAN
  • Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]: A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia, pancytopenia and malignant lymphoma. {ECO:0000269 PubMed:10598819, ECO:0000269 PubMed:11034354, ECO:0000269 PubMed:11049992, ECO:0000269 PubMed:11477068, ECO:0000269 PubMed:11493483, ECO:0000269 PubMed:11823424, ECO:0000269 PubMed:12458214, ECO:0000269 PubMed:14674764, ECO:0000269 PubMed:15841490, ECO:0000269 PubMed:16720617, ECO:0000269 PubMed:9771704}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SH2D1A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SH2D1A: view

No data available for Genatlas for SH2D1A Gene

Publications for SH2D1A Gene

  1. SH2D1A mutations in Japanese males with severe Epstein-Barr virus--associated illnesses. (PMID: 11493483) Sumazaki R … Miyawaki T (Blood 2001) 3 4 23 41
  2. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. (PMID: 9771704) Coffey AJ … Bentley DR (Nature genetics 1998) 2 3 4 23
  3. The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. (PMID: 9774102) Sayos J … Terhorst C (Nature 1998) 2 3 4 23
  4. Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency. (PMID: 15320910) Eastwood D … Gaspar HB (Clinical and experimental immunology 2004) 3 23 41
  5. SAP couples Fyn to SLAM immune receptors. (PMID: 12545174) Chan B … Eck MJ (Nature cell biology 2003) 3 4 23

Products for SH2D1A Gene

  • Signalway Proteins for SH2D1A

Sources for SH2D1A Gene