Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SH2D1A Gene

Aliases for SH2D1A Gene

  • SH2 Domain Containing 1A 2 3
  • Signaling Lymphocytic Activation Molecule-Associated Protein 3 4
  • T-Cell Signal Transduction Molecule SAP 3 4
  • Duncan Disease SH2-Protein 3 4
  • SLAM-Associated Protein 3 4
  • XLPD1 3 6
  • IMD5 3 6
  • DSHP 3 4
  • SAP 3 4
  • LYP 3 6
  • XLP 3 6
  • Signaling Lymphocyte Activation Molecule-Associated Protein 3
  • SLAM Associated Protein/SH2 Domain Protein 1A 3
  • T Cell Signal Transduction Molecule SAP 3
  • SH2 Domain-Containing Protein 1A 3
  • Lymphoproliferative Syndrome 2
  • SH2 Domain Protein 1A 2
  • Duncans Disease 2
  • SAP/SH2D1A 3
  • MTCP1 3
  • EBVS 3
  • XLPD 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

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 dysgammaglobulinemia. Among its related pathways are PI3K-Akt signaling pathway and Tyrosine Kinases / Adaptors. GO annotations related to this gene include SH3/SH2 adaptor activity. An important paralog of this gene is SH2D1B.

UniProtKB/Swiss-Prot for SH2D1A Gene

  • Inhibitor of the SLAM self-association. Acts by blocking recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to a docking site in the SLAM cytoplasmic region. Mediates interaction between FYN and SLAMF1. May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3

Gene Wiki entry for SH2D1A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH2D1A Gene

Genomics for SH2D1A Gene

Regulatory Elements for SH2D1A Gene

Genomic Location for SH2D1A Gene

Start:
124,346,282 bp from pter
End:
124,373,160 bp from pter
Size:
26,879 bases
Orientation:
Plus strand

Genomic View for SH2D1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for SH2D1A Gene at MOPED

Post-translational modifications for SH2D1A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SH2D1A Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SH2D1A (SH2D1A)

No data available for DME Specific Peptides for SH2D1A Gene

Domains for SH2D1A Gene

Gene Families for SH2D1A Gene

HGNC:
  • SH2D :SH2 domain containing

Protein Domains for SH2D1A Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O60880

UniProtKB/Swiss-Prot:

SH21A_HUMAN :
  • O60880
Domain:
  • Contains 1 SH2 domain.
genes like me logo Genes that share domains with SH2D1A: view

Function for SH2D1A Gene

Molecular function for SH2D1A Gene

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
UniProtKB/Swiss-Prot Function:
Inhibitor of the SLAM self-association. Acts by blocking recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to a docking site in the SLAM cytoplasmic region. Mediates interaction between FYN and SLAMF1. May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3

Gene Ontology (GO) - Molecular Function for SH2D1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005070 SH3/SH2 adaptor activity NAS 9774102
GO:0005515 protein binding IPI 10549287
genes like me logo Genes that share ontologies with SH2D1A: view
genes like me logo Genes that share phenotypes with SH2D1A: view

Animal Models for SH2D1A Gene

MGI Knock Outs for SH2D1A:

Animal Model Products

miRNA for SH2D1A Gene

miRTarBase miRNAs that target SH2D1A

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SH2D1A

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SH2D1A Gene

Localization for SH2D1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SH2D1A Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SH2D1A Gene COMPARTMENTS Subcellular localization image for SH2D1A gene
Compartment Confidence
cytosol 3
nucleus 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SH2D1A Gene

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

Pathways for SH2D1A Gene

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

Pathways by source for SH2D1A Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Type I Interferon Response in human,mouse,rat
    • Notch Signaling Pathway in human,mouse,rat

Gene Ontology (GO) - Biological Process for SH2D1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006959 humoral immune response IEA --
GO:0006968 cellular defense response NAS 9774102
GO:0007267 cell-cell signaling IDA 9774102
GO:0009967 positive regulation of signal transduction NAS 9774102
GO:0045954 positive regulation of natural killer cell mediated cytotoxicity IEA --
genes like me logo Genes that share ontologies with SH2D1A: view

Compounds for SH2D1A Gene

(6) Novoseek inferred chemical compound relationships for SH2D1A Gene

Compound -log(P) Hits PubMed IDs
phosphotyrosine 50.9 6
tyrosine 45 28
inositol 19.9 2
fluconazole 19.6 4
calcium 0 4
genes like me logo Genes that share compounds with SH2D1A: view

Transcripts for SH2D1A Gene

Unigene Clusters for SH2D1A Gene

SH2 domain containing 1A:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SH2D1A

Primer Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
SH2D1A

Expression for SH2D1A Gene

mRNA expression in normal human tissues 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 (15.3), Spleen (7.2), and Esophagus - Muscularis (5.1).

Protein differential expression in normal tissues 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 from ProteomicsDB, PaxDb, MOPED, and MaxQB for SH2D1A Gene

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.
genes like me logo Genes that share expressions with SH2D1A: view

Expression partners for SH2D1A Gene

In Situ Assay Products

Orthologs for SH2D1A Gene

This gene was present in the common ancestor of chordates.

Orthologs for SH2D1A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SH2D1A 35
  • 91.67 (n)
  • 93.75 (a)
SH2D1A 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SH2D1A 35
  • 93.49 (n)
  • 93.75 (a)
SH2D1A 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sh2d1a 35
  • 85.98 (n)
  • 88.89 (a)
Sh2d1a 16
Sh2d1a 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sh2d1a 35
  • 87.57 (n)
  • 90.48 (a)
oppossum
(Monodelphis domestica)
Mammalia SH2D1A 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SH2D1A 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100857869 35
  • 70.03 (n)
  • 69.75 (a)
SH2D1A 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sh2d1a 35
  • 69.87 (n)
  • 66.35 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.28871 35
zebrafish
(Danio rerio)
Actinopterygii sh2d1ab 35
  • 63.24 (n)
  • 63.55 (a)
sh2d1ab 36
  • 63 (a)
OneToOne
Species with no ortholog for SH2D1A:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for SH2D1A Gene

Paralogs for SH2D1A Gene

Selected SIMAP similar genes for SH2D1A Gene using alignment to 4 proteins:

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

Variants for SH2D1A Gene

Sequence variations from dbSNP and Humsavar for SH2D1A Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs732202 -- 124,363,457(+) ATGGT(C/G)GTCCC intron-variant
rs990545 -- 124,346,012(+) GCCCA(A/G)AGTTC upstream-variant-2KB
rs2049995 -- 124,366,141(+) ATTAT(G/T)TACCA intron-variant
rs2206017 -- 124,366,216(+) GACTA(A/C)AATAT intron-variant
rs2239481 -- 124,369,724(-) AACCC(A/G)TCCTC intron-variant

Relevant External Links for SH2D1A Gene

HapMap Linkage Disequilibrium report
SH2D1A
Human Gene Mutation Database (HGMD)
SH2D1A
Locus Specific Mutation Databases (LSDB)
SH2D1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SH2D1A Gene

Disorders for SH2D1A Gene

(1) OMIM Diseases for SH2D1A Gene (300490)

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:11493483, 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.

(23) Novoseek inferred disease relationships for SH2D1A Gene

Disease -log(P) Hits PubMed IDs
lymphoproliferative syndrome 98.2 60
x-linked lymphoproliferative syndrome 96.5 18
dysgammaglobulinemia 91.1 2
ebv infections 86 21
infectious mononucleosis 85.5 7

Relevant External Links for SH2D1A

GeneTests
SH2D1A
GeneReviews
SH2D1A
Genetic Association Database (GAD)
SH2D1A
Human Genome Epidemiology (HuGE) Navigator
SH2D1A
genes like me logo Genes that share disorders with SH2D1A: view

No data available for Genatlas for SH2D1A Gene

Publications for SH2D1A Gene

  1. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. (PMID: 9771704) Coffey A.J. … Bentley D.R. (Nat. Genet. 1998) 2 3 4 23
  2. 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
  3. SH2D1A mutations in Japanese males with severe Epstein-Barr virus- associated illnesses. (PMID: 11493483) Sumazaki R. … Miyawaki T. (Blood 2001) 3 4 23 48
  4. Decreased expression of signaling lymphocytic-activation molecule- associated protein (SAP) transcripts in T cells from patients with rheumatoid arthritis. (PMID: 11282995) Takei M. … Sawada S. (Int. Immunol. 2001) 3 4 23
  5. Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition. (PMID: 10549287) Poy F. … Eck M.J. (Mol. Cell 1999) 3 4 23

Products for SH2D1A Gene

Sources for SH2D1A Gene

Back to Top

Content