Aliases for SH2B1 Gene
Aliases for SH2B1 Gene
External Ids for SH2B1 Gene
- HGNC: 30417
- Entrez Gene: 25970
- Ensembl: ENSG00000178188
- OMIM: 608937
- UniProtKB: Q9NRF2
Previous GeneCards Identifiers for SH2B1 Gene
- GC16P028766
- GC16P026742
Summaries for SH2B1 Gene
-
This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various 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]
GeneCards Summary for SH2B1 Gene
SH2B1 (SH2B Adaptor Protein 1) is a Protein Coding gene. Diseases associated with SH2B1 include Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2b1 Deficiency and Chromosome 16P11.2 Deletion Syndrome, 220-Kb. Among its related pathways are Cytokine Signaling in Immune system and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include signal transducer activity and signaling adaptor activity. An important paralog of this gene is SH2B2.
UniProtKB/Swiss-Prot for SH2B1 Gene
-
Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways 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 cell line-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 phosphorylated by JAK2 on tyrosine residues. These phosphotyrosines form potential binding sites for other signaling proteins. GH also promotes serine/threonine phosphorylation of SH2B1 and these phosphorylated residues may serve to recruit other proteins to the GHR-JAK2-SH2B1 complexes, such as RAC1. In leptin (LEP) signaling, binds to and potentiates the activation 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 tyrosine phosphorylation of IRS1 and IRS2, resulting in activation of the PI 3-kinase pathway. Acts as positive regulator of NGF-mediated activation of the Akt/Forkhead pathway; prolongs NGF-induced phosphorylation of AKT1 on Ser-473 and AKT1 enzymatic activity. Enhances the kinase activity of the cytokine receptor-associated tyrosine kinase JAK2 and of other receptor tyrosine kinases, such as FGFR3 and NTRK1. For JAK2, the mechanism seems to involve dimerization of both, SH2B1 and JAK2. Enhances RET phosphorylation and kinase activity. Isoforms seem to be differentially involved in IGF-I and PDGF-induced mitogenesis (By similarity).
Additional gene information for SH2B1 Gene
- Monarch Initiative
- Search for SH2B1 at DataMed
- Search for SH2B1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH2B1 Gene
Genomics for SH2B1 Gene
GeneHancer (GH) Regulatory Elements for SH2B1 Gene
Promoters and enhancers for SH2B1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SH2B1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SH2B1 gene promoter:
Regulatory Element Products
Genomic Locations for SH2B1 Gene
Genomic Locations for SH2B1 Gene
- chr16:28,846,600-28,874,213
- (GRCh38/hg38)
- Size:
- 27,614 bases
- Orientation:
- Plus strand
- chr16:28,857,921-28,885,534
- (GRCh37/hg19)
Genomic View for SH2B1 Gene
Genes around SH2B1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p11.2 by Ensembl
- 16p11.2 by Entrez Gene
- 16p11.2 by HGNC
SH2B1 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 SH2B1 Gene
Proteins for SH2B1 Gene
-
Protein details for SH2B1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NRF2-SH2B1_HUMAN
- Recommended name:
- SH2B adapter protein 1
- Protein Accession:
- Q9NRF2
- A8K2R7
- Q96FK3
- Q96SX3
- Q9NRF1
- Q9NRF3
- Q9P2P7
- Q9Y3Y3
Protein attributes for SH2B1 Gene
- Size:
- 756 amino acids
- Molecular mass:
- 79366 Da
- Quaternary structure:
-
- 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 its N-terminus with JAK2; the SH2 domain is required for the major interaction with JAK2 phosphorylated on tyrosine residues; the N-terminus provides a low-affinity binding to JAK2 independent of JAK2 phosphorylation. Isoform 3 interacts via its SH2 domain with JAK2. Isoform 1 interacts via its SH2 domain with INSR; the interaction requires receptor activation. Isoform 3 interacts via its SH2 domain with INSR; the interaction requires receptor activation and requires INSR phosphorylation at Tyr-1185. Isoform 1 interacts with IGF1R; the interaction requires receptor activation. Isoform 2 interacts with PRKAR1A/RET (PTC2) fusion protein; the interaction requires RET Tyr-905 and Tyr-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 with RAC1. Isoform 2 interacts with PDGFRA and/or PDGFRB; the interaction requires receptor activation. Interacts with ISR1 and ISR2. Isoform 3 is probably part of a complex consisting of INSR, ISR1 and SH2B1. Probably part of a ternary complex consisting of SH2B1, JAK2 and ISR1 or ISR2. May interact with FCER1G (By similarity). Interacts (via SH2 domain) with NTRK1 (phosphorylated) (By similarity).
- SequenceCaution:
-
- Sequence=AAH10704.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA92537.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB55148.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for SH2B1 Gene
Post-translational modifications for SH2B1 Gene
- Phosphorylated on tyrosine residues in response to receptor kinase stimulation. Phosphorylated by RET.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for SH2B1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for SH2B1 (SH2B1)
-
Custom Antibody ServicesOriGene Antibodies for SH2B1
- Novus Biologicals Antibodies for SH2B1
-
Abcam antibodies for SH2B1
- Invitrogen Antibodies for SH2B1
- GeneTex SH2B1 antibody for SH2B1
-
Santa Cruz Biotechnology (SCBT) Antibodies for SH2B1
Protein Products
-
OriGene Purified Proteins for SH2B1
- Search Origene for MassSpec and Protein Over-expression Lysates for SH2B1
- Origene Custom Protein Services for SH2B1
- antibodies-online: Search results for 6 available SH2B1 Proteins ranked by validation data
- Compare Top SH2B1 Proteins
-
Quality Products:
- Search GeneTex for Proteins for SH2B1
-
Abcam proteins for SH2B1
Assay Products
- antibodies-online: Search results for 1 available SH2B1 Elisa Kits ranked by validation data
- Compare Top SH2B1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for SH2B1 Gene
Domains & Families for SH2B1 Gene
Gene Families for SH2B1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for SH2B1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SH2B1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9NRF2- Family:
-
- Belongs to the SH2B adapter family.
Function for SH2B1 Gene
Molecular function for SH2B1 Gene
- UniProtKB/Swiss-Prot Function:
- Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways 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 cell line-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 phosphorylated by JAK2 on tyrosine residues. These phosphotyrosines form potential binding sites for other signaling proteins. GH also promotes serine/threonine phosphorylation of SH2B1 and these phosphorylated residues may serve to recruit other proteins to the GHR-JAK2-SH2B1 complexes, such as RAC1. In leptin (LEP) signaling, binds to and potentiates the activation 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 tyrosine phosphorylation of IRS1 and IRS2, resulting in activation of the PI 3-kinase pathway. Acts as positive regulator of NGF-mediated activation of the Akt/Forkhead pathway; prolongs NGF-induced phosphorylation of AKT1 on Ser-473 and AKT1 enzymatic activity. Enhances the kinase activity of the cytokine receptor-associated tyrosine kinase JAK2 and of other receptor tyrosine kinases, such as FGFR3 and NTRK1. For JAK2, the mechanism seems to involve dimerization of both, SH2B1 and JAK2. Enhances RET phosphorylation and kinase activity. Isoforms seem to be differentially involved in IGF-I and PDGF-induced mitogenesis (By similarity).
Phenotypes From GWAS Catalog for SH2B1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004871 | signal transducer activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 9742218 |
| GO:0035591 | signaling adaptor activity | IEA | -- |
Phenotypes for SH2B1 Gene
- MGI mutant phenotypes for SH2B1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for SH2B1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SH2B1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SH2B1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SH2B1 gene
- Search ViGene Biosciences for SH2B1
CRISPR Products
-
OriGene CRISPR knockouts for SH2B1
- genomics-online: gRNA clones - Search results for available SH2B1 gene related products
- Applied Biological Materials CRISPR for SH2B1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SH2B1
- GenScript: Design CRISPR guide RNA sequences for SH2B1
miRNA for SH2B1 Gene
- miRTarBase miRNAs that target SH2B1
miRNA Products
- Search ViGene Biosciences for SH2B1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SH2B1
- Browse OriGene Inhibitory RNA Products For SH2B1
- genomics-online: shRNA clones - Search results for available SH2B1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SH2B1 gene
Clone Products
-
OriGene ORF clones in human for SH2B1
- RG222333
- RC222333L2
- RC222333L1
- RC222333
- RG227858
- RC227858L2
- RC227858L1
- RC227858
- RG227893
- RC227893L2
- RC227893L1
- RC227893
- RG227887
- RC227887L2
- RC227887L1
- RC227887
- RG227881
- RC227881L2
- RC227881L1
- RC227881
- RC222333L2V
- RC222333L1V
- RC227858L2V
- RC227858L1V
- RC227893L2V
- RC227893L1V
- RC227887L2V
- RC227887L1V
- RC227881L2V
- RC227881L1V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SH2B1
- VectorBuilder custom plasmid, inducible vectors for SH2B1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SH2B1
-
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
- genomics-online: cdna clones - Search results for available SH2B1 gene related products
- orf clones - Search results for available SH2B1 gene related products
- Applied Biological Materials Clones for SH2B1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SH2B1
-
ViGene Biosciences adenoviral particle packaged cDNA for SH2B1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SH2B1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SH2B1 gene
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SH2B1 Gene
Localization for SH2B1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SH2B1 Gene
- Cytoplasm. Membrane. Nucleus. Note=Shuttles between the nucleus and the cytoplasm. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 2 |
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IEA | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for SH2B1 Gene
Pathways by source for SH2B1 Gene
2 BioSystems pathways for SH2B1 Gene
1 KEGG pathway for SH2B1 Gene
1 GeneGo (Thomson Reuters) pathway for SH2B1 Gene
Interacting Proteins for SH2B1 Gene
Selected Interacting proteins:
ENSP00000321221
Q9NRF2-SH2B1_HUMAN
for SH2B1 Gene via
STRING
UniProtKB
IID
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007165 | signal transduction | IEA | -- |
| GO:0007596 | blood coagulation | TAS | -- |
| GO:0009967 | positive regulation of signal transduction | IEA | -- |
| GO:0030032 | lamellipodium assembly | IEA | -- |
| GO:0035556 | intracellular signal transduction | IEA | -- |
Transcripts for SH2B1 Gene
mRNA/cDNA for SH2B1 Gene
- (14) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (244) Selected AceView cDNA sequences:
- (16) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for SH2B1
- genomics-online: gRNA clones - Search results for available SH2B1 gene related products
- Applied Biological Materials CRISPR for SH2B1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SH2B1
- GenScript: Design CRISPR guide RNA sequences for SH2B1
miRNA Products
- Search ViGene Biosciences for SH2B1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SH2B1
- Browse OriGene Inhibitory RNA Products For SH2B1
- genomics-online: shRNA clones - Search results for available SH2B1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SH2B1 gene
Clone Products
-
OriGene ORF clones in human for SH2B1
- RG222333
- RC222333L2
- RC222333L1
- RC222333
- RG227858
- RC227858L2
- RC227858L1
- RC227858
- RG227893
- RC227893L2
- RC227893L1
- RC227893
- RG227887
- RC227887L2
- RC227887L1
- RC227887
- RG227881
- RC227881L2
- RC227881L1
- RC227881
- RC222333L2V
- RC222333L1V
- RC227858L2V
- RC227858L1V
- RC227893L2V
- RC227893L1V
- RC227887L2V
- RC227887L1V
- RC227881L2V
- RC227881L1V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SH2B1
- VectorBuilder custom plasmid, inducible vectors for SH2B1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SH2B1
-
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
- genomics-online: cdna clones - Search results for available SH2B1 gene related products
- orf clones - Search results for available SH2B1 gene related products
- Applied Biological Materials Clones for SH2B1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - |
| ExUns: | 14a | · | 14b | ^ | 15 | ^ | 16 |
|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||
| SP2: | |||||||
| SP3: | - | - | |||||
| SP4: | |||||||
| SP5: | |||||||
| SP6: | |||||||
| SP7: | |||||||
| SP8: | |||||||
| SP9: | |||||||
| SP10: | |||||||
| SP11: | |||||||
| SP12: |
Expression for SH2B1 Gene
This gene is overexpressed in Bone (22.8), Testis (13.4), and Retina (7.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SH2B1 Gene
NURSA nuclear receptor signaling pathways regulating expression of SH2B1 Gene:
SH2B1SOURCE GeneReport for Unigene cluster for SH2B1 Gene:
Hs.15744mRNA Expression by UniProt/SwissProt for SH2B1 Gene:
Q9NRF2-SH2B1_HUMAN
Tissue specificity:
Widely expressed with highest levels in skeletal muscle and ovary.
Evidence on tissue expression from TISSUES for SH2B1 Gene
- Nervous system(4.9)
- Eye(4.5)
- Liver(4.3)
- Intestine(2.6)
- Skin(2.5)
- Adrenal gland(2.3)
- Lung(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SH2B1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeleton
Regions:
Head and neck:
- brain
- face
- forehead
- head
- jaw
- maxilla
- mouth
- skull
Primer Products
-
OriGene qPCR primer pairs for SH2B1
-
OriGene qPCR primer pairs and template standards for SH2B1
- genomics-online: primer clones - Search results for available SH2B1 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SH2B1 Gene
Orthologs for SH2B1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SH2B1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | SH2B1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | SH2B1 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Sh2b1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Sh2b1 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SH2B1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SH2B1 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SH2B1 34 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.30673 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | sh2b1 34 |
|
OneToOne | |
| Dr.10574 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Lnk 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for SH2B1 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)
- chicken (Gallus gallus)
- 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)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for SH2B1 Gene
(1) SIMAP similar genes for SH2B1 Gene using alignment to 10 proteins:
Variants for SH2B1 Gene
| SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057518742 | pathogenic, Combined oxidative phosphorylation deficiency 4 | 28,845,030(+) | A/T | upstream_transcript_variant | |
| rs1057518743 | pathogenic, Combined oxidative phosphorylation deficiency 4 | 28,845,997(+) | G/ | upstream_transcript_variant | |
| rs112029765 | likely-benign, Combined oxidative phosphorylation deficiency | 28,846,401(+) | C/T | upstream_transcript_variant | |
| rs11542257 | benign, likely-benign, not specified, Combined oxidative phosphorylation deficiency | 28,845,961(+) | G/A/C | upstream_transcript_variant | |
| rs115691896 | uncertain-significance, likely-benign, Combined oxidative phosphorylation deficiency, not specified | 28,844,875(+) | G/C | upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2830n100 | CNV | gain | 25217958 |
| dgv2831n100 | CNV | gain | 25217958 |
| dgv4987n54 | CNV | gain | 21841781 |
| esv2758640 | CNV | gain+loss | 17122850 |
| esv3570454 | CNV | gain | 25503493 |
| esv3638349 | CNV | gain | 21293372 |
| esv3892826 | CNV | gain+loss | 25118596 |
| esv989259 | CNV | gain | 20482838 |
| nsv1059555 | CNV | gain | 25217958 |
| nsv518648 | CNV | loss | 19592680 |
| nsv519100 | CNV | gain | 19592680 |
| nsv571805 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
10.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
7.35;
81.59% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SH2B1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH2B1 Gene
Disorders for SH2B1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency |
|
|
| chromosome 16p11.2 deletion syndrome, 220-kb |
|
|
| chromosome 16p11.2 deletion syndrome, 593-kb |
|
|
Search SH2B1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SH2B1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for SH2B1 Gene
Publications for SH2B1 Gene
- The SH2B gene is associated with serum leptin and body fat in normal female twins. (PMID: 17228025) Jamshidi Y … O'Dell SD (Obesity (Silver Spring, Md.) 2007) 3 22 44 58
- Kinase activation through dimerization by human SH2-B. (PMID: 15767667) Nishi M … Shoelson SE (Molecular and cellular biology 2005) 3 4 22 58
- Interaction of fibroblast growth factor receptor 3 and the adapter protein SH2-B. A role in STAT5 activation. (PMID: 11827956) Kong M … Donoghue DJ (The Journal of biological chemistry 2002) 2 3 4 58
- Alternative splicing, gene localization, and binding of SH2-B to the insulin receptor kinase domain. (PMID: 10594240) Nelms K … Paul WE (Mammalian genome : official journal of the International Mammalian Genome Society 1999) 2 3 4 58
- Implication of genetic variants near NEGR1, SEC16B, TMEM18, ETV5/DGKG, GNPDA2, LIN7C/BDNF, MTCH2, BCDIN3D/FAIM2, SH2B1, FTO, MC4R, and KCTD15 with obesity and type 2 diabetes in 7705 Chinese. (PMID: 20215397) Ng MC … Ma RC (The Journal of clinical endocrinology and metabolism 2010) 3 44 58
Products for SH2B1 Gene
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- antibodies-online: Search results for 65 available SH2B1 Antibodies ranked by validation data
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- genomics-online: cdna clones - Search results for available SH2B1 gene related products
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Sources for SH2B1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (28) ASD
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- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
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- (39) Pseudogene
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- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
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- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
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- (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
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- (86) RefSeq
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- (92) COMPARTMENTS
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- (97) antibodies-online
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- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
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- (158) Applied Biosystems
