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Aliases for SH2D1B Gene

Aliases for SH2D1B Gene

  • SH2 Domain Containing 1B 2 3 5
  • EWS/FLI1-Activated Transcript 2 3 4
  • EAT-2 3 4
  • EAT2 3 4
  • SH2 Domain-Containing Molecule EAT2 3

External Ids for SH2D1B Gene

Previous GeneCards Identifiers for SH2D1B Gene

  • GC01M159097
  • GC01M160631
  • GC01M133609

Summaries for SH2D1B Gene

Entrez Gene Summary for SH2D1B Gene

  • By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 [PubMed 11689425]).[supplied by OMIM, Mar 2008]

GeneCards Summary for SH2D1B Gene

SH2D1B (SH2 Domain Containing 1B) is a Protein Coding gene. Diseases associated with SH2D1B include Superior Mesenteric Artery Syndrome. Among its related pathways are Immune System and Immune response Role of DAP12 receptors in NK cells. GO annotations related to this gene include protein binding, bridging. An important paralog of this gene is SH2D1A.

UniProtKB/Swiss-Prot for SH2D1B Gene

  • Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as CD84, SLAMF1, LY9 and CD244 (PubMed:11689425). In SLAM signaling seems to cooperate with SH2D1A/SAP. Plays a role in regulation of effector functions of natural killer (NK) cells by controlling signal transduction through CD244/2B4 without effecting its tyrosine phosphorylation; downstream signaling involves PLCG1 and ERK activation (PubMed:24687958). Activation of SLAMF7-mediated NK cell function does not effect receptor tyrosine phosphorylation but distal signaling (By similarity). In the context of NK cell-mediated cytotoxicity does not enhance conjugate formation with target cells but stimulates polarization of the microtubule-organizing center and cytotoxic granules toward the NK cell synapse (PubMed:24687958). Negatively regulates CD40-induced cytokine procuction dendritic cells downstream of SLAM family receptors probably by inducing activation of the PI3K pathway to inhibit p38 MAPK and JNK activation (By similarity).

Gene Wiki entry for SH2D1B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH2D1B Gene

Genomics for SH2D1B Gene

Regulatory Elements for SH2D1B Gene

Enhancers for SH2D1B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SH2D1B on UCSC Golden Path with GeneCards custom track

Genomic Location for SH2D1B Gene

Chromosome:
1
Start:
162,395,266 bp from pter
End:
162,412,138 bp from pter
Size:
16,873 bases
Orientation:
Minus strand

Genomic View for SH2D1B Gene

Genes around SH2D1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH2D1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SH2D1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH2D1B Gene

Proteins for SH2D1B Gene

  • Protein details for SH2D1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14796-SH21B_HUMAN
    Recommended name:
    SH2 domain-containing protein 1B
    Protein Accession:
    O14796
    Secondary Accessions:
    • B2RBN6
    • Q5T0L1
    • Q8NI18
    • Q969K9

    Protein attributes for SH2D1B Gene

    Size:
    132 amino acids
    Molecular mass:
    15297 Da
    Quaternary structure:
    • Binds to the phosphorylated receptors CD84, SLAMF1, LY9 and CD244. Does not bind to non-phosphorylated SLAMF1 (PubMed:11689425). Interacts with SLAMF7 (via ITSM phosphorylated on Tyr-304). Interacts with Src kinases HCK, LYN, FYN, FGR and LCK (via kinase domains) (By similarity). Interacts (phosphorylated at Tyr-127) with PLCG1.

    Alternative splice isoforms for SH2D1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SH2D1B Gene

Proteomics data for SH2D1B Gene at MOPED

Post-translational modifications for SH2D1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SH2D1B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SH2D1B Gene

Domains & Families for SH2D1B Gene

Gene Families for SH2D1B Gene

Protein Domains for SH2D1B Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SH2D1B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14796

UniProtKB/Swiss-Prot:

SH21B_HUMAN :
  • Contains 1 SH2 domain.
Domain:
  • Contains 1 SH2 domain.
genes like me logo Genes that share domains with SH2D1B: view

Function for SH2D1B Gene

Molecular function for SH2D1B Gene

UniProtKB/Swiss-Prot Function:
Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as CD84, SLAMF1, LY9 and CD244 (PubMed:11689425). In SLAM signaling seems to cooperate with SH2D1A/SAP. Plays a role in regulation of effector functions of natural killer (NK) cells by controlling signal transduction through CD244/2B4 without effecting its tyrosine phosphorylation; downstream signaling involves PLCG1 and ERK activation (PubMed:24687958). Activation of SLAMF7-mediated NK cell function does not effect receptor tyrosine phosphorylation but distal signaling (By similarity). In the context of NK cell-mediated cytotoxicity does not enhance conjugate formation with target cells but stimulates polarization of the microtubule-organizing center and cytotoxic granules toward the NK cell synapse (PubMed:24687958). Negatively regulates CD40-induced cytokine procuction dendritic cells downstream of SLAM family receptors probably by inducing activation of the PI3K pathway to inhibit p38 MAPK and JNK activation (By similarity).

Phenotypes for SH2D1B Gene

genes like me logo Genes that share phenotypes with SH2D1B: view

Animal Models for SH2D1B Gene

MGI Knock Outs for SH2D1B:

Animal Model Products

CRISPR Products

miRNA for SH2D1B Gene

miRTarBase miRNAs that target SH2D1B

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SH2D1B Gene

Localization for SH2D1B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SH2D1B Gene COMPARTMENTS Subcellular localization image for SH2D1B gene
Compartment Confidence
cytosol 5
nucleus 2
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SH2D1B Gene

Pathways & Interactions for SH2D1B Gene

genes like me logo Genes that share pathways with SH2D1B: view

Pathways by source for SH2D1B Gene

Gene Ontology (GO) - Biological Process for SH2D1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002717 positive regulation of natural killer cell mediated immunity ISS --
GO:0045087 innate immune response IEA --
genes like me logo Genes that share ontologies with SH2D1B: view

No data available for SIGNOR curated interactions for SH2D1B Gene

Drugs & Compounds for SH2D1B Gene

(1) Drugs for SH2D1B Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SH2D1B: view

Transcripts for SH2D1B Gene

mRNA/cDNA for SH2D1B Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(22) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SH2D1B Gene

SH2 domain containing 1B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SH2D1B Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b
SP1: - -
SP2: -
SP3: - - -
SP4: -

Relevant External Links for SH2D1B Gene

GeneLoc Exon Structure for
SH2D1B
ECgene alternative splicing isoforms for
SH2D1B

Expression for SH2D1B Gene

mRNA expression in normal human tissues for SH2D1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SH2D1B Gene

This gene is overexpressed in Whole Blood (x20.1), Muscle - Skeletal (x15.4), and Spleen (x4.4).

Protein differential expression in normal tissues from HIPED for SH2D1B Gene

This gene is overexpressed in NK cells (63.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SH2D1B Gene



SOURCE GeneReport for Unigene cluster for SH2D1B Gene Hs.350581

genes like me logo Genes that share expression patterns with SH2D1B: view

Protein tissue co-expression partners for SH2D1B Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for SH2D1B Gene

Orthologs for SH2D1B Gene

This gene was present in the common ancestor of chordates.

Orthologs for SH2D1B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SH2D1B 35
  • 84.6 (n)
  • 76.52 (a)
SH2D1B 36
  • 67 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SH2D1B 35
  • 79.39 (n)
  • 71.76 (a)
SH2D1B 36
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sh2d1b1 35
  • 80.05 (n)
  • 65.15 (a)
Sh2d1b1 16
Sh2d1b1 36
  • 64 (a)
OneToMany
Sh2d1b2 36
  • 65 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia SH2D1B 35
  • 99.24 (n)
  • 99.24 (a)
SH2D1B 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sh2d1b 35
  • 77.27 (n)
  • 65.15 (a)
oppossum
(Monodelphis domestica)
Mammalia SH2D1B 36
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves SH2D1B 35
  • 60.31 (n)
  • 49.62 (a)
SH2D1B 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SH2D1B 36
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486929 35
  • 59.26 (n)
  • 53.17 (a)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-11p10.10 35
  • 51.77 (n)
  • 43.94 (a)
SH2D1B 36
  • 38 (a)
OneToOne
Species with no ortholog for SH2D1B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 SH2D1B Gene

ENSEMBL:
Gene Tree for SH2D1B (if available)
TreeFam:
Gene Tree for SH2D1B (if available)

Paralogs for SH2D1B Gene

Paralogs for SH2D1B Gene

(4) SIMAP similar genes for SH2D1B Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for SH2D1B Gene

genes like me logo Genes that share paralogs with SH2D1B: view

Variants for SH2D1B Gene

Sequence variations from dbSNP and Humsavar for SH2D1B Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs35688243 - 162,411,910(+) CTGGT(A/G)TCGAC reference, missense
rs34001279 - 162,397,313(+) TTACT(C/G/T)TTCTT reference, missense
rs238773 -- 162,409,179(-) CAGAC(A/C)TTGGC intron-variant
rs164122 -- 162,398,567(-) CCAAA(A/G)CGTAT intron-variant
rs164123 -- 162,397,864(-) AGGAA(C/T)GTATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SH2D1B Gene

Variant ID Type Subtype PubMed ID
dgv141e1 CNV Complex 17122850
dgv399n71 CNV Gain 21882294
esv34209 CNV Gain 17911159
nsv516482 CNV Gain+Loss 19592680

Variation tolerance for SH2D1B Gene

Residual Variation Intolerance Score: 75.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.14; 69.40% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for SH2D1B Gene

Disorders for SH2D1B Gene

MalaCards: The human disease database

(1) MalaCards diseases for SH2D1B Gene - From: DISEASES

Disorder Aliases PubMed IDs
superior mesenteric artery syndrome
  • arteriomesenteric duodenal compression syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SH2D1B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SH2D1B
genes like me logo Genes that share disorders with SH2D1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SH2D1B Gene

Publications for SH2D1B Gene

  1. Structural basis for the interaction of the free SH2 domain EAT-2 with SLAM receptors in hematopoietic cells. (PMID: 11689425) Morra M. … Terhorst C. (EMBO J. 2001) 2 3 4 23 67
  2. Identification and characterization of two related murine genes, Eat2a and Eat2b, encoding single SH2-domain adapters. (PMID: 16425036) Calpe S. … Lanyi A. (Immunogenetics 2006) 3 23
  3. EAT-2 is a novel SH2 domain containing protein that is up regulated by Ewing's sarcoma EWS/FLI1 fusion gene. (PMID: 9000139) Thompson A.D. … Denny C. (Oncogene 1996) 2 3
  4. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  5. Manipulation of EAT-2 expression promotes induction of multiple beneficial regulatory and effector functions of the human innate immune system as a novel immunomodulatory strategy. (PMID: 24374770) Aldhamen Y.A. … Amalfitano A. (Int. Immunol. 2014) 3

Products for SH2D1B Gene

Sources for SH2D1B Gene

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