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Aliases for SH2D1A Gene

Aliases for SH2D1A Gene

  • SH2 Domain Containing 1A 2 3 5
  • Signaling Lymphocytic Activation Molecule-Associated Protein 3 4
  • Duncan Disease SH2-Protein 3 4
  • SLAM-Associated Protein 3 4
  • DSHP 3 4
  • SAP 3 4
  • 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
  • SH2 Domain-Containing Protein 1A 3
  • Lymphoproliferative Syndrome 2
  • SH2 Domain Protein 1A 2
  • Duncans Disease 2
  • SAP/SH2D1A 3
  • MTCP1 3
  • XLPD1 3
  • EBVS 3
  • XLPD 3
  • IMD5 3
  • LYP 3
  • XLP 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 Class I MHC mediated antigen processing and presentation. 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

  • 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

Additional gene information for SH2D1A Gene

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

Genomics for SH2D1A Gene

Regulatory Elements for SH2D1A Gene

Enhancers for SH2D1A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH124341 1.6 FANTOM5 Ensembl ENCODE dbSUPER 7.3 +117.7 117739 8 LEF1 TBL1XR1 TAL1 ZKSCAN1 CHAMP1 CCNT2 TCF12 CC2D1A ZNF316 GATA2 SH2D1A STAG2 ENSG00000226532 GC0XM124376
GH0XH124215 1.7 VISTA FANTOM5 Ensembl ENCODE 2.6 -10.2 -10179 4 SOX5 SOX13 SP5 SOX6 PPARG ZNF766 JUND POLR2A ZNF366 GLIS1 SH2D1A HSPA8P20
GH0XH124395 0.8 FANTOM5 ENCODE dbSUPER 5.3 +167.8 167808 1 SH2D1A LOC105373331 RPS26P57
GH0XH124230 0.5 ENCODE 0.7 +2.8 2775 0 ZNF316 NRF1 MAFG EMSY MAFK SH2D1A TEX13D
GH0XH124208 0.8 Ensembl ENCODE 0.4 -18.9 -18887 0 POLR2A BHLHE40 MAX MYC HSPA8P20 SH2D1A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SH2D1A on UCSC Golden Path with GeneCards custom track

Genomic Location for SH2D1A Gene

Chromosome:
X
Start:
124,227,868 bp from pter
End:
124,373,197 bp from pter
Size:
145,330 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

Antibody Products

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

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:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for SH2D1A Gene

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:
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 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 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

Clone Products

  • Applied Biological Materials Clones for SH2D1A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 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
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

2 Cell Signaling Technology pathways for SH2D1A Gene
2 BioSystems 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

(5) Drugs for SH2D1A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(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

Unigene Clusters for SH2D1A Gene

SH2 domain containing 1A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SH2D1A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for SH2D1A Gene



Protein tissue co-expression partners for SH2D1A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SH2D1A Gene:

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(4.3)
  • Blood(2.7)
  • Lymph node(2.2)

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
Organs:
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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia SH2D1A 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SH2D1A 33 34
  • 93.49 (n)
cow
(Bos Taurus)
Mammalia SH2D1A 33 34
  • 91.67 (n)
rat
(Rattus norvegicus)
Mammalia Sh2d1a 33
  • 87.57 (n)
mouse
(Mus musculus)
Mammalia Sh2d1a 33 16 34
  • 85.98 (n)
oppossum
(Monodelphis domestica)
Mammalia SH2D1A 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100857869 33
  • 70.03 (n)
SH2D1A 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sh2d1a 33
  • 69.87 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.28871 33
zebrafish
(Danio rerio)
Actinopterygii sh2d1ab 33 34
  • 63.24 (n)
Species where no ortholog for SH2D1A was found in the sources mined by GeneCards:
  • 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

(9) 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
rs111033624 Pathogenic, Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] 124,346,737(+) GCTGA(C/G)GGACA reference, missense
rs111033627 Pathogenic, Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] 124,370,177(+) CCAGA(C/T)AGCAC reference, missense
rs111033630 Pathogenic, Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] 124,365,787(+) ATACC(G/T)AGTGT reference, missense
rs28935184 Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]
VAR_048005 Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240]

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)

Relevant External Links 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

(23) MalaCards diseases for SH2D1A Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lymphoproliferative syndrome, x-linked, 1
  • x-linked lymphoproliferative syndrome 1
lymphoproliferative syndrome
  • lymphoproliferative disorder
dysgammaglobulinemia
hemophagocytic lymphohistiocytosis
  • haemophagocytic syndrome
selective immunoglobulin deficiency disease
- 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.

Relevant External Links for SH2D1A

Genetic Association Database (GAD)
SH2D1A
Human Genome Epidemiology (HuGE) Navigator
SH2D1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. SH2D1A mutations in Japanese males with severe Epstein-Barr virus--associated illnesses. (PMID: 11493483) Sumazaki R … Miyawaki T (Blood 2001) 3 4 22 45 60
  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 22 60
  3. 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 22 60
  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 22 45 60
  5. SAP couples Fyn to SLAM immune receptors. (PMID: 12545174) Chan B … Eck MJ (Nature cell biology 2003) 3 4 22 60

Products for SH2D1A Gene

Sources for SH2D1A Gene

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