Aliases for SH2D1B Gene
Aliases for SH2D1B Gene
External Ids for SH2D1B Gene
- HGNC: 30416
- Entrez Gene: 117157
- Ensembl: ENSG00000198574
- OMIM: 608510
- UniProtKB: O14796
Previous GeneCards Identifiers for SH2D1B Gene
- GC01M159097
- GC01M160631
- GC01M162366
- GC01M133609
Summaries 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 Innate Immune System and Immune response Role of DAP12 receptors in NK cells. Gene Ontology (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 production in dendritic cells downstream of SLAM family receptors probably by inducing activation of the PI3K pathway to inhibit p38 MAPK and JNK activation (By similarity).
Additional gene information for SH2D1B Gene
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH2D1B Gene
Genomics for SH2D1B Gene
GeneHancer (GH) Regulatory Elements for SH2D1B Gene
Promoters and enhancers for SH2D1B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SH2D1B on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for SH2D1B Gene
Genomic Locations for SH2D1B Gene
- chr1:162,395,266-162,412,138
- (GRCh38/hg38)
- Size:
- 16,873 bases
- Orientation:
- Minus strand
- chr1:162,365,056-162,381,928
- (GRCh37/hg19)
Genomic View for SH2D1B Gene
Genes around SH2D1B on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q23.3 by Ensembl
- 1q23.3 by Entrez Gene
- 1q23.3 by HGNC
SH2D1B Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for SH2D1B Gene
Post-translational modifications for SH2D1B Gene
Other Protein References for SH2D1B Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for SH2D1B
-
Abcam antibodies for SH2D1B
- Invitrogen Antibodies for SH2D1B
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Protein Products
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-
Abcam proteins for SH2D1B
Assay Products
No data available for DME Specific Peptides for SH2D1B Gene
Domains & Families for SH2D1B Gene
Gene Families for SH2D1B Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
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
No data available for UniProtKB/Swiss-Prot for SH2D1B Gene
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 production in 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 From GWAS Catalog for SH2D1B Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 12928397 |
| GO:0030674 | protein binding, bridging | TAS | 16425036 |
Phenotypes for SH2D1B Gene
- MGI mutant phenotypes for SH2D1B:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for SH2D1B:
Animal Models for SH2D1B Gene
- MGI Knock Outs for SH2D1B:
-
- Sh2d1b1 tm1Vei
- Sh2d1b1 tm1.1Cpt
- Sh2d1b1/Sh2d1b2 tm1.1Cpt
- Sh2d1b1 tm2Vei
- Sh2d1b1 tm3Vei
Animal Model Products
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-
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-
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Santa Cruz Biotechnology (SCBT) CRISPR for SH2D1B
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miRNA for SH2D1B Gene
- miRTarBase miRNAs that target SH2D1B
miRNA Products
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Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SH2D1B
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Clone Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for SH2D1B
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
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Horizon Cell Lines for SH2D1B
-
ViGene Biosciences adenoviral particle packaged cDNA for SH2D1B gene
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SH2D1B Gene
Localization for SH2D1B Gene
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 2 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IDA | 16920955 |
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for SH2D1B Gene
Pathways & Interactions for SH2D1B Gene
Pathways by source for SH2D1B Gene
3 Reactome pathways for SH2D1B Gene
1 KEGG pathway for SH2D1B Gene
Interacting Proteins for SH2D1B Gene
Selected Interacting proteins:
ENSP00000356906
O14796-SH21B_HUMAN
for SH2D1B Gene via
STRING
MINT
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002250 | adaptive immune response | IEA | -- |
| GO:0002366 | leukocyte activation involved in immune response | ISS | -- |
| GO:0002376 | immune system process | IEA | -- |
| GO:0002717 | positive regulation of natural killer cell mediated immunity | ISS | -- |
| GO:0045087 | innate immune response | IEA | -- |
No data available for SIGNOR curated interactions for SH2D1B Gene
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
CRISPR Products
-
OriGene CRISPR knockouts for SH2D1B
- genomics-online: gRNA clones - Search results for 64 available SH2D1B gene related products
- Overview of 64 available SH2D1B gene related products
- Applied Biological Materials CRISPR for SH2D1B
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SH2D1B
- GenScript: Design CRISPR guide RNA sequences for SH2D1B
miRNA Products
- Search ViGene Biosciences for SH2D1B
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SH2D1B
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-
ViGene Biosciences ready-to-package AAV shRNAs for SH2D1B gene
Clone Products
- Sino Biological Human cDNA Clone for SH2D1B
- VectorBuilder custom plasmid, inducible vectors for SH2D1B
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SH2D1B
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for SH2D1B
- Applied Biological Materials Clones for SH2D1B
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||
| SP2: | - | ||||||||||||||
| SP3: | - | - | - | ||||||||||||
| SP4: | - |
Expression for SH2D1B Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Natural Killer Cells Peripheral Blood
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).
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
NURSA nuclear receptor signaling pathways regulating expression of SH2D1B Gene:
SH2D1BSOURCE GeneReport for Unigene cluster for SH2D1B Gene:
Hs.350581Evidence on tissue expression from TISSUES for SH2D1B Gene
- Blood(4.4)
- Spleen(4.4)
- Lung(4.1)
Primer Products
-
OriGene qPCR primer pairs for SH2D1B
-
OriGene qPCR primer pairs and template standards for SH2D1B
- genomics-online: primer clones - Search results for 64 available SH2D1B gene related products
- Overview of 64 available SH2D1B gene related products
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SH2D1B Gene
Orthologs for SH2D1B Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SH2D1B 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | SH2D1B 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Sh2d1b1 33 16 34 |
|
||
| Sh2d1b2 34 |
|
OneToMany | |||
| dog (Canis familiaris) |
Mammalia | SH2D1B 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Sh2d1b 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SH2D1B 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SH2D1B 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SH2D1B 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100486929 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | si:dkey-11p10.10 33 |
|
||
| SH2D1B 34 |
|
OneToOne |
- Species where no ortholog for SH2D1B was found in the sources mined by GeneCards:
-
- 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)
Paralogs for SH2D1B Gene
(4) SIMAP similar genes for SH2D1B Gene using alignment to 1 proteins:
Pseudogenes.org Pseudogenes for SH2D1B Gene
Variants for SH2D1B Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000210350 | -- | 162,405,214(-) | A/C | intron_variant | |
| rs1000229443 | -- | 162,408,937(-) | A/G | intron_variant | |
| rs1000231526 | -- | 162,402,539(-) | A/C | intron_variant | |
| rs1000384990 | -- | 162,398,932(-) | T/C | coding_sequence_variant, synonymous_variant | |
| rs1000645036 | -- | 162,397,153(-) | T/C | 3_prime_UTR_variant |
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)
Additional Variant Information for SH2D1B Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- SH2D1B
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH2D1B Gene
Disorders for SH2D1B Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| superior mesenteric artery syndrome |
|
|
Search SH2D1B in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SH2D1B
No data available for UniProtKB/Swiss-Prot and Genatlas for SH2D1B Gene
Publications for SH2D1B Gene
- Structural basis for the interaction of the free SH2 domain EAT-2 with SLAM receptors in hematopoietic cells. (PMID: 11689425) Morra M … Terhorst C (The EMBO journal 2001) 2 3 4 22 58
- EAT-2 is a novel SH2 domain containing protein that is up regulated by Ewing's sarcoma EWS/FLI1 fusion gene. (PMID: 9000139) Thompson AD … Denny C (Oncogene 1996) 2 3 4 58
- EAT-2, a SAP-like adaptor, controls NK cell activation through phospholipase Cγ, Ca++, and Erk, leading to granule polarization. (PMID: 24687958) Pérez-Quintero LA … Veillette A (The Journal of experimental medicine 2014) 3 4 58
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
- 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 22 58
Products for SH2D1B Gene
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for SH2D1B
- antibodies-online: Search results for 58 available SH2D1B Antibodies ranked by validation data
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Sources for SH2D1B Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
