Human Gene SH2B1 (ENST00000538342.5) from GENCODE V44
  Description: Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 7, mRNA. (from RefSeq NM_001308294)
RefSeq Summary (NM_001308294): 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].
Gencode Transcript: ENST00000538342.5
Gencode Gene: ENSG00000178188.16
Transcript (Including UTRs)
   Position: hg38 chr16:28,863,806-28,873,823 Size: 10,018 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg38 chr16:28,867,400-28,873,465 Size: 6,066 Coding Exon Count: 8 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:28,863,806-28,873,823)mRNA (may differ from genome)Protein (335 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIOMIMPubMed
UniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SH2B1
Diseases sorted by gene-association score: severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency* (350), chromosome 16p11.2 deletion syndrome, 220-kb* (42), chromosome 16p11.2 deletion syndrome, 593-kb* (25)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 29.96 RPKM in Brain - Cerebellum
Total median expression: 781.17 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -80.10166-0.483 Picture PostScript Text
3' UTR -145.80358-0.407 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001849 - Pleckstrin_homology
IPR000980 - SH2

Pfam Domains:
PF00017 - SH2 domain

ModBase Predicted Comparative 3D Structure on B4DLN5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0035591 signaling adaptor activity

Biological Process:
GO:0007165 signal transduction
GO:0009967 positive regulation of signal transduction


-  Descriptions from all associated GenBank mRNAs
  AK055104 - Homo sapiens cDNA FLJ30542 fis, clone BRAWH2001378, highly similar to Rattus norvegicus SH2-B PH domain containing signaling mediator 1 (Sh2bpsm1), transcript variant 1, mRNA.
AB037720 - Homo sapiens KIAA1299 mRNA for KIAA1299 protein.
AK298569 - Homo sapiens cDNA FLJ59376 complete cds, highly similar to Mus musculus SH2B adaptor protein 1 (Sh2b1), mRNA.
AK297080 - Homo sapiens cDNA FLJ59336 complete cds, highly similar to Homo sapiens SH2-B homolog (SH2B), mRNA.
AF227967 - Homo sapiens SH2-B alpha signaling protein (SH2B) mRNA, complete cds, alternatively spliced.
AF227968 - Homo sapiens SH2-B beta signaling protein (SH2B) mRNA, complete cds, alternatively spliced.
AF227969 - Homo sapiens SH2-B gamma signaling protein (SH2B) mRNA, complete cds, alternatively spliced.
AK290332 - Homo sapiens cDNA FLJ75160 complete cds, highly similar to Homo sapiens SH2-B homolog (SH2B), mRNA.
AL713760 - Homo sapiens mRNA; cDNA DKFZp727I201 (from clone DKFZp727I201).
AB385445 - Synthetic construct DNA, clone: pF1KA1299, Homo sapiens SH2B1 gene for SH2B adaptor protein 1, complete cds, without stop codon, in Flexi system.
BC010704 - Homo sapiens SH2B adaptor protein 1, mRNA (cDNA clone MGC:16976 IMAGE:3866324), complete cds.
AL049924 - Homo sapiens mRNA; cDNA DKFZp564G1182 (from clone DKFZp564G1182); partial cds.
AK027488 - Homo sapiens cDNA FLJ14582 fis, clone NT2RM4001411, highly similar to Mus musculus Pro-rich, PH, SH2 domain-containing signaling mediator (PSM) mRNA.
CU679801 - Synthetic construct Homo sapiens gateway clone IMAGE:100017245 5' read SH2B1 mRNA.
KJ902399 - Synthetic construct Homo sapiens clone ccsbBroadEn_11793 SH2B1 gene, encodes complete protein.
JD154832 - Sequence 135856 from Patent EP1572962.
JD076626 - Sequence 57650 from Patent EP1572962.
JD445745 - Sequence 426769 from Patent EP1572962.
JD478125 - Sequence 459149 from Patent EP1572962.
JD545862 - Sequence 526886 from Patent EP1572962.
JD101293 - Sequence 82317 from Patent EP1572962.
JD209155 - Sequence 190179 from Patent EP1572962.
JD113022 - Sequence 94046 from Patent EP1572962.
JD402616 - Sequence 383640 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04722 - Neurotrophin signaling pathway

-  Other Names for This Gene
  Alternate Gene Symbols: B4DLN5, B4DLN5_HUMAN, ENST00000538342.1, ENST00000538342.2, ENST00000538342.3, ENST00000538342.4, NM_001308294, uc010vdd.1, uc010vdd.2, uc010vdd.3
UCSC ID: ENST00000538342.5
RefSeq Accession: NM_001308294
Protein: B4DLN5 CCDS: CCDS76851.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.