SH2B1 Gene
protein-coding GIFtS: 61
GCID: GC16P028875
|
|
SH2B adaptor protein 1
| |
Aliases
for SH2B1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| SH2B Adaptor Protein 11 2 | | FLJ305421 | | SH2B1 2 3 | | SH2 Domain-Containing Putative Adapter SH2-B2 | | Pro-Rich, PH And SH2 Domain-Containing Signaling Mediator2 3 | | SH2-B Signaling Protein2 | | PSM2 3 | | SH2B Adapter Protein 12 | | SH2 Domain-Containing Protein 1B2 3 | | KIAA12993 |
Export aliases for SH2B1 gene to outside databasesPrevious GC identifers: GC16P028766 GC16P026742 |
Summaries
for SH2B1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for SH2B1:
This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation ofvarious kinases and may function in cytokine and growth factor receptor signaling and cellular transformation.Alternatively spliced transcript variants have been described. (provided by RefSeq, Mar 2009)
UniProtKB/Swiss-Prot: SH2B1_HUMAN, Q9NRF2Function: Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signalingpathways mediated by Janus kinase (JAK) and receptor tyrosine kinases, including the receptors of insulin (INS),insulin-like growth factor I (IGF1), nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), glial cellline-derived neurotrophic factor (GDNF), platelet-derived growth factor (PDGF) and fibroblast growth factors (FGFs).In growth hormone (GH) signaling, autophosphorylated ('Tyr-813') JAK2 recruits SH2B1, which in turn is phosphorylatedby JAK2 on tyrosine residues. These phosphotyrosines form potential binding sites for other signaling proteins. GHalso promotes serine/threonine phosphorylation of SH2B1 and these phosphorylated residues may serve to recruit otherproteins to the GHR-JAK2-SH2B1 complexes, such as RAC1. In leptin (LEP) signaling, binds to and potentiates theactivation of JAK2 by globally enhancing downstream pathways. In response to leptin, binds simultaneously to both,JAK2 and IRS1 or IRS2, thus mediating formation of a complex of JAK2, SH2B1 and IRS1 or IRS2. Mediates tyrosinephosphorylation of IRS1 and IRS2, resulting in activation of the PI 3-kinase pathway. Acts as positive regulator ofNGF-mediated activation of the Akt/Forkhead pathway; prolongs NGF-induced phosphorylation of AKT1 on 'Ser-473' andAKT1 enzymatic activity. Enhances the kinase activity of the cytokine receptor-associated tyrosine kinase JAK2 and ofother receptor tyrosine kinases, such as FGFR3 and NTRK1. For JAK2, the mechanism seems to involve dimerization ofboth, SH2B1 and JAK2. Enhances RET phosphorylation and kinase activity. Isoforms seem to be differentially involved inIGF-I and PDGF-induced mitogenesis (By similarity)
Gene Wiki entry for SH2B1
|
Genomic Views
for SH2B1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000016.9 NC_018927.1 NT_010393.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SH2B1 gene promoter:
PPAR-alpha PPAR-gamma1 AML1a GATA-3 Pax-2 Pax-2a CUTL1 PPAR-gamma2
Other transcription factors
Search SABiosciences Chromatin IP Primers for SH2B1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SH2B1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 16p11.2 Ensembl cytogenetic band: 16p11.2 HGNC cytogenetic band: 16p11.2SH2B1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16P028875: view genomic region
(about GC identifiers)
Start:
|
28,857,921 bp from pter |
End:
|
28,885,534 bp from pter |
Size:
|
27,614 bases |
Orientation:
|
plus strand |
|
Proteins
for SH2B1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: SH2B1_HUMAN, Q9NRF2 (See
protein sequence)Recommended Name: SH2B adapter protein 1 Size: 756 amino acids; 79366 Da
Subunit: Self-associates. Homopentamer (By similarity). Forms a heteromultimeric complex with SH2B2 (By similarity).Interacts with SH2B2. Isoform 1 interacts via its SH2 domain with JAK2. Isoform 2 interacts via its SH2 domain and itsN-terminus with JAK2; the SH2 domain is required for the major interaction with JAK2 phosphorylated on tyrosineresidues; the N-terminus provides a low-affinity binding to JAK2 independent of JAK2 phosphorylation. Isoform 3interacts via its SH2 domain with JAK2. Isoform 1 interacts via its SH2 domain with INSR; the interaction requiresreceptor activation. Isoform 3 interacts via its SH2 domain with INSR; the interaction requires receptor activationand requires INSR phosphorylation at 'Tyr-1185'. Isoform 1 interacts with IGF1R; the interaction requires receptoractivation. Isoform 2 interacts with PRKAR1A/RET (PTC2) fusion protein; the interaction requires RET 'Tyr-905' andTyr-981'. Isoform 2 interacts via its SH2 domain with FGFR3; the interaction requires FGFR3 'Tyr-724' and 'Tyr-760'.Isoform 2 interacts with RET; the interaction requires RET kinase activity and RET 'Tyr-981'. Isoform 2 interacts withRAC1. Isoform 2 interacts with PDGFRA and/or PDGFRB; the interaction requires receptor activation. Interacts with ISR1and ISR2. Isoform 3 is probably part of a complex consisting of INSR, ISR1 and SH2B1. Probably part of a ternarycomplex consisting of SH2B1, JAK2 and ISR1 or ISR2. May interact with FCER1G (By similarity). Interacts (via SH2domain) with NTRK1 (phosphorylated) (By similarity)
Subcellular location: Cytoplasm (By similarity). Membrane (Probable). Nucleus (By similarity). Note=Shuttles betweenthe nucleus and the cytoplasm (By similarity)
Sequence caution: Sequence=AAH10704.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=BAA92537.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB55148.1;Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A8K2R7 Q96FK3 Q96SX3 Q9NRF1 Q9NRF3 Q9P2P7 Q9Y3Y3Alternative splicing: 3 isoforms: Q9NRF2-1 Q9NRF2-2 Q9NRF2-3 Explore the universe of human proteins at neXtProt for SH2B1: NX_Q9NRF2
Post-translational modifications:
Phosphorylated on tyrosine residues in response to receptor kinase stimulation. Phosphorylated by RET1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NRF2
SH2B1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (5 alternative transcripts):
NP_001139267.1 NP_001139268.1 NP_001139269.1 NP_001139284.1 NP_056318.2
ENSEMBL proteins: ENSP00000458097 ENSP00000455236 ENSP00000321221 ENSP00000337163 ENSP00000457214 ENSP00000440354 ENSP00000352232 ENSP00000438784 ENSP00000378903 ENSP00000455534 ENSP00000454601 ENSP00000457724 ENSP00000457315 Reactome Protein details: Q9NRF2
Human Recombinant Protein Products for SH2B1:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
SH2B1 for ontologies About GeneDecksing
SH2B1 Antibody Products:
Assay Products for SH2B1: |
Protein
Domains /
Families
for SH2B1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SH2B1 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9NRF2ProtoNet protein and cluster: Q9NRF2 2 Blocks protein families: IPB000980 SH2 domain signature IPB001849 Pleckstrin-like
UniProtKB/Swiss-Prot: SH2B1_HUMAN, Q9NRF2Similarity: Belongs to the SH2B adapter familySimilarity: Contains 1 PH domainSimilarity: Contains 1 SH2 domain |
Function
for SH2B1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: SH2B1_HUMAN, Q9NRF2Function: Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signalingpathways mediated by Janus kinase (JAK) and receptor tyrosine kinases, including the receptors of insulin (INS),insulin-like growth factor I (IGF1), nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), glial cellline-derived neurotrophic factor (GDNF), platelet-derived growth factor (PDGF) and fibroblast growth factors (FGFs).In growth hormone (GH) signaling, autophosphorylated ('Tyr-813') JAK2 recruits SH2B1, which in turn is phosphorylatedby JAK2 on tyrosine residues. These phosphotyrosines form potential binding sites for other signaling proteins. GHalso promotes serine/threonine phosphorylation of SH2B1 and these phosphorylated residues may serve to recruit otherproteins to the GHR-JAK2-SH2B1 complexes, such as RAC1. In leptin (LEP) signaling, binds to and potentiates theactivation of JAK2 by globally enhancing downstream pathways. In response to leptin, binds simultaneously to both,JAK2 and IRS1 or IRS2, thus mediating formation of a complex of JAK2, SH2B1 and IRS1 or IRS2. Mediates tyrosinephosphorylation of IRS1 and IRS2, resulting in activation of the PI 3-kinase pathway. Acts as positive regulator ofNGF-mediated activation of the Akt/Forkhead pathway; prolongs NGF-induced phosphorylation of AKT1 on 'Ser-473' andAKT1 enzymatic activity. Enhances the kinase activity of the cytokine receptor-associated tyrosine kinase JAK2 and ofother receptor tyrosine kinases, such as FGFR3 and NTRK1. For JAK2, the mechanism seems to involve dimerization ofboth, SH2B1 and JAK2. Enhances RET phosphorylation and kinase activity. Isoforms seem to be differentially involved inIGF-I and PDGF-induced mitogenesis (By similarity) Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
SH2B1 for ontologies About GeneDecksing
Phenotypes:
6 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Sh2b1):
SH2B1 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-outs for SH2B1: Sh2b1tm1Ayos Sh2b1tm1Lr
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SH2B1 (see all 11)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SH2B1 (see all 6)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 5): SH2B1 (NM_001145812) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SH2B1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SH2B1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH2B1 |
|
Pathways & Interactions
for SH2B1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Development HGF signaling pathway | | | 2 | FBXW7 WD mutants do not bind NICD1 | | | 3 | Immune System | | | 4 | Factors involved in megakaryocyte development and platelet production | | | 5 | Cytokine Signaling in Immune system | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for SH2B1
1  GeneGo (Thomson Reuters) Pathway for SH2B1
1  BioSystems Pathway for SH2B1
5/8 
Reactome Pathways for SH2B1 (see all 8)
1 
Kegg Pathway (Kegg details for SH2B1):
SH2B1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SH2B1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 17)
5/17 Interacting proteins for SH2B1 (Q9NRF22, 3 ENSP000003371634) via UniProtKB, MINT, STRING, and/or I2D (see all 17)About this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table
SH2B1 for ontologies About GeneDecksing
|
Drugs & Compounds
for SH2B1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
SH2B1 for compounds About GeneDecksing
 Browse Tocris compounds for SH2B1
3 Novoseek chemical compound relationships for SH2B1 gene About this table
Search CenterWatch for drugs/clinical trials and news about SH2B1
|
Transcripts
for SH2B1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SH2B1 gene (5 alternative transcripts): NM_001145795.1 NM_001145796.1 NM_001145797.1 NM_001145812.1 NM_015503.2 Unigene Cluster for SH2B1: SH2B adaptor protein 1 Hs.15744 [show with all ESTs]Unigene Representative Sequence: AB03772015 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000563591 ENST00000567536 ENST00000322610(uc002dri.3) ENST00000337120(uc010vdc.2 uc002drk.3 uc002drl.3 uc010vdd.2 uc010vde.2 uc002drm.3)
ENST00000566209 ENST00000545570 ENST00000359285(uc002drj.3) ENST00000538342
ENST00000563674 ENST00000395532 ENST00000566176 ENST00000561629 ENST00000569471
ENST00000569651 ENST00000568868
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SH2B1 (see all 11)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SH2B1 (see all 6)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 5): SH2B1 (NM_001145812) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SH2B1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SH2B1 |
Additional cDNA sequence: AB037720.1 AF227967.1 AF227968.1 AF227969.1 AK027488.1 AK055104.1 AK290332.1 AK297080.1 AK298569.1 AL049924.1 AL713760.1 BC010704.1 21 DOTS entries: DT.102843736 DT.100814792 DT.92430928 DT.97767147 DT.100814789 DT.100843607 DT.95181169 DT.100874802 DT.120696481 DT.102843682 DT.120695757 DT.92430955 DT.100814793 DT.100642143 DT.100814791 DT.120695416 DT.92430929 DT.95181175 DT.100029714 DT.91861817 DT.91850874 24/244 AceView cDNA sequences (see all 244): BQ682800 BM694158 BM695807 BQ421325 AA666176 AI277029 BQ680754 BE167721 AA323271 BF476665 BQ005267 CB117717 AL049924 BM853634 NM_015503 AI160864 BC010704 BM705015 BQ669405 BM980403 CA438402 BX357234 BM353685 BM707835
GeneLoc Exon Structure
5/12 Alternative Splicing Database (ASD) splice patterns (SP) for SH2B1 (see all 12) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11a | · | 11b | · | 11c | · | 11d | ^ | 12a | · | 12b | · | 12c | ^ | 13 | ^ |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | - | | - | | - | | - | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | - | | - | | - | | - | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 14a | · | 14b | ^ | 15 | ^ | 16 |
|---|
|
| SP1: | | | - | | | | | | |
| SP2: | | | | | | | | | |
| SP3: | | | - | | - | | | | |
| SP4: | | | | | | | | | |
| SP5: | | | | | | | | |
ECgene alternative splicing isoforms for SH2B1
|
Expression
for SH2B1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SH2B1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGCTCCTTGA
About this image
See SH2B1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SH2B1
SOURCE GeneReport for Unigene cluster: Hs.15744
UniProtKB/Swiss-Prot: SH2B1_HUMAN, Q9NRF2Tissue specificity: Widely expressed with highest levels in skeletal muscle and ovary
SABiosciences Expression via Pathway-Focused PCR Array including SH2B1:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SH2B1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SH2B1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SH2B1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SH2B1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH2B1 |
Orthologs
for SH2B1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for SH2B1 gene from 4/15 species (see all 15) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
lizard
(Anolis carolinensis) |
Reptilia |
---- |
-- |
66(a)46(a) |
1 ↔ many1 ↔ many |
GL343287.1(444836-449036) GL343287.1(439266-442501) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.306732 |
Xenopus laevis transcribed sequence with weak similarity more |
72.17(n) |
|
48045264 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.105742 |
Transcribed sequence with weak similarity to protein more |
77.36(n) |
|
BI885804.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Lnk6 |
Lnk |
25(a) |
1 → many |
3R(21714265-21718999) |
ENSEMBL Gene Tree for SH2B1 (if available)
TreeFam Gene Tree for SH2B1 (if available) |
Paralogs
for SH2B1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SH2B1 gene
- SH2B32 SH2B22
1 SIMAP similar gene for SH2B1 using alignment to 10 protein entries: SH2B1_HUMAN (see all proteins):SH2B2
SH2B1 for paralogs About GeneDecksing
|
Genomic Variants
for SH2B1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 16 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SH2B1 (28857921 - 28885534 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SH2B1
1 CNV: 3999
Human Gene Mutation Database (HGMD): SH2B1
| SABiosciences Cancer Mutation PCR Assays |
| 1 SABiosciences qBiomarker Copy Number PCR Array containing SH2B1: |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SH2B1 |
|
Disorders
/ Diseases
for SH2B1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SH2B1 for disorders About GeneDecksing
OMIM gene information: 608937
OMIM disorders: --
8  diseases for SH2B1: About MalaCardsanorexia nervosa morbid obesity myeloproliferative disorder crohn's disease
obesity twinning asthma neuronitis
Human Genome Epidemiology (HuGE) Navigator: SH2B1 (28 documents)
Export disorders for SH2B1 gene to outside databases
|
Publications
for SH2B1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for SH2B1 gene, integrated from 9 sources (see all 77):
(articles sorted by number of sources associating them with SH2B1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Interaction of fibroblast growth factor receptor 3 and the adapter protein SH2-B. A role in STAT5 activation. (PubMed id 11827956)1, 2, 3 Kong M....Donoghue D.J. (2002)
- Alternative splicing, gene localization, and binding of SH2-B to the insulin receptor kinase domain. (PubMed id 10594240)1, 2, 3 Nelms K....Paul W.E. (1999)
- Kinase activation through dimerization by human SH2-B. (PubMed id 15767667)1, 2, 9 Nishi M.... Shoelson S.E. (2005)
- SH2B1beta adaptor is a key enhancer of RET tyrosine kinase signaling. (PubMed id 17471236)1, 2 Donatello S.... Borrello M.G. (2007)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2 Nagase T.... Ohara O. (2000)
- SH2-Balpha is an insulin-receptor adapter protein and substrate that interacts with the activation loop of the insulin-receptor kinase. (PubMed id 9742218)1, 2 Kotani K.... Pillay T.S. (1998)
- Identification and characterization of novel substrates of Trk receptors in developing neurons. (PubMed id 9856458)1, 9 Qian X....Ginty D.D. (1998)
- The SH2B gene is associated with serum leptin and body fat in normal female twins. (PubMed id 17228025)1, 9 Jamshidi Y....O'Dell S.D. (2007)
- SH2-B is a positive regulator of nerve growth factor-mediated activation of the Akt/Forkhead pathway in PC12 cells. (PubMed id 14565960)2, 9 Wang X.... Carter-Su C. (2004)
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External Searches for SH2B1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing SH2B1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing SH2B1 gene
(According to HUGE)
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Specialized Databases showing SH2B1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for SH2B1 | Pharmacogenomics, SNPs, Pathways |
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| Patent Information for SH2B1 gene:
Search GeneIP for patents involving SH2B1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for SH2B1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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