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    Sh2b1 SH2B adaptor protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 20399, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Sh2b1provided by MGI
    Official Full Name
    SH2B adaptor protein 1provided by MGI
    Primary source
    MGI:MGI:1201407
    See related
    Ensembl:ENSMUSG00000030733 AllianceGenome:MGI:1201407
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Psm; Irip; SH2-B; SH2-Bb; Sh2bpsm1; mKIAA1299; C530001K22Rik
    Summary
    Predicted to enable transmembrane receptor protein tyrosine kinase adaptor activity. Involved in positive regulation of mitotic nuclear division and regulation of DNA biosynthetic process. Acts upstream of or within lamellipodium assembly. Predicted to be located in cytosol and ruffle. Predicted to be active in plasma membrane. Is expressed in dorsal aorta. Orthologous to human SH2B1 (SH2B adaptor protein 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thymus adult (RPKM 36.7), adrenal adult (RPKM 29.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    7 F3; 7 69.06 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (126066165..126075882, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (126466993..126476650, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E9706 Neighboring gene CD19 antigen Neighboring gene STARR-positive B cell enhancer ABC_E9707 Neighboring gene rabaptin, RAB GTPase binding effector protein 2 Neighboring gene ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:133618829-133619012 Neighboring gene STARR-positive B cell enhancer ABC_E4975 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:133630590-133630777 Neighboring gene predicted gene, 46001 Neighboring gene Tu translation elongation factor, mitochondrial

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Role of the Beta and Gamma Isoforms of the Adapter Protein SH2B1 in Regulating Energy Balance. Argetsinger LS, et al. Endocrinology, 2023 Mar 13. PMID 36799031, Free PMC Article
    2. Neuronal SH2B1 attenuates apoptosis in an MPTP mouse model of Parkinson's disease via promoting PLIN4 degradation. Han X, et al. Redox Biol, 2022 Jun. PMID 35390677, Free PMC Article
    3. The nucleolar δ isoform of adapter protein SH2B1 enhances morphological complexity and function of cultured neurons. Cote JL, et al. J Cell Sci, 2022 Feb 1. PMID 35019135, Free PMC Article
    4. Deletion of the Brain-Specific α and δ Isoforms of Adapter Protein SH2B1 Protects Mice From Obesity. Cote JL, et al. Diabetes, 2021 Feb. PMID 33214137, Free PMC Article
    5. Neural deletion of Sh2b1 results in brain growth retardation and reactive aggression. Jiang L, et al. FASEB J, 2018 Apr. PMID 29180441, Free PMC Article

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Role of the Beta and Gamma Isoforms of the Adapter Protein SH2B1 in Regulating Energy Balance.
      Title: Role of the Beta and Gamma Isoforms of the Adapter Protein SH2B1 in Regulating Energy Balance.
    2. Neuronal SH2B1 attenuates apoptosis in an MPTP mouse model of Parkinson's disease via promoting PLIN4 degradation.
      Title: Neuronal SH2B1 attenuates apoptosis in an MPTP mouse model of Parkinson's disease via promoting PLIN4 degradation.
    3. The adaptor SH2B1 and the phosphatase PTP4A1 regulate the phosphorylation of cytohesin-2 in myelinating Schwann cells in mice.
      Title: The adaptor SH2B1 and the phosphatase PTP4A1 regulate the phosphorylation of cytohesin-2 in myelinating Schwann cells in mice.
    4. The nucleolar delta isoform of adapter protein SH2B1 enhances morphological complexity and function of cultured neurons.
      Title: The nucleolar δ isoform of adapter protein SH2B1 enhances morphological complexity and function of cultured neurons.
    5. Deletion of the Brain-Specific alpha and delta Isoforms of Adapter Protein SH2B1 Protects Mice From Obesity.
      Title: Deletion of the Brain-Specific α and δ Isoforms of Adapter Protein SH2B1 Protects Mice From Obesity.
    6. Mice with LepR neuron-specific or adult-onset, hypothalamus-specific ablation of Sh2b1 develop obesity, insulin resistance, and liver steatosis. Hypothalamic overexpression of human SH2B1 protects against high fat diet-induced obesity and metabolic syndromes. Results unravel an unrecognized LepR neuron Sh2b1/ sympathetic nervous system/brown adipose tissue /thermogenesis axis that combats obesity and metabolic disease.
      Title: Leptin receptor-expressing neuron Sh2b1 supports sympathetic nervous system and protects against obesity and metabolic disease.
    7. The increased expression of genes in leptin (JAK/STAT or AKT) signaling implies that the main mode of action for SH2B1 mutations might affect leptin signaling rather than insulin signaling.
      Title: The Effect of SH2B1 Variants on Expression of Leptin- and Insulin-Induced Pathways in Murine Hypothalamus.
    8. Brain-specific Sh2b1 knockout (KO) mice exhibited brain growth retardation and reactive aggression.
      Title: Neural deletion of Sh2b1 results in brain growth retardation and reactive aggression.
    9. data identify SH2B1 as a major regulator of IRS2 stability, demonstrate a novel feedback mechanism linking mTORC1 signaling with IRS2, and identify 4E-BP2 as a major regulator of proliferation and survival of beta-cells.
      Title: 4E-BP2/SH2B1/IRS2 Are Part of a Novel Feedback Loop That Controls β-Cell Mass.
    10. that SH2B1 is a key positive mediator of pathological cardiac hypertrophy
      Title: SH2B1 is critical for the regulation of cardiac remodelling in response to pressure overload.
    Submit: New GeneRIF Correction See all GeneRIFs (30)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling adaptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transmembrane receptor protein tyrosine kinase adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell motility IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within lamellipodium assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of SMAD protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in positive regulation of mitotic nuclear division IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of DNA biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ruffle TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    SH2B adapter protein 1
    Names
    SH2 domain-containing protein 1B
    SH2-B PH domain containing signaling mediator 1
    pro-rich, PH and SH2 domain-containing signaling mediator

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001081459.2 → NP_001074928.1  SH2B adapter protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001074928.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) includes an additional exon that results in a frameshift in the 3' coding region, compared to variant 7. The encoded isoform (1, also known as beta) has a distinct and shorter C-terminus, compared to isoform 4. Variants 1, 3 and 4 all encode isoform 1.
      Source sequence(s)
      AI182992, AK168439, AK171328, BY749559
      Consensus CDS
      CCDS85412.1
      UniProtKB/Swiss-Prot
      Q91ZM2
      Related
      ENSMUSP00000145953.2, ENSMUST00000205340.2
      Conserved Domains (3) summary
      cd10346
      Location:518 → 614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246 → 378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam08916
      Location:26 → 81
      Phe_ZIP; Phenylalanine zipper

    2. NM_001289538.1 → NP_001276467.1  SH2B adapter protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001276467.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) encodes the longest isoform (4, also known as alpha).
      Source sequence(s)
      AI182992, AK168439, AK171328, BY749559
      Consensus CDS
      CCDS85411.1
      UniProtKB/Swiss-Prot
      O54867, Q05DJ7, Q792R7, Q91ZM2, Q91ZM3, Q91ZV5, Q9WVM5
      Related
      ENSMUSP00000145754.2, ENSMUST00000205733.2
      Conserved Domains (3) summary
      cd10346
      Location:518 → 614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246 → 378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam08916
      Location:26 → 81
      Phe_ZIP; Phenylalanine zipper

    3. NM_001289539.1 → NP_001276468.1  SH2B adapter protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001276468.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, and includes an additional exon that results in a frameshift in the 3' coding region, compared to variant 7. The encoded isoform (1, also known as beta) has a distinct and shorter C-terminus, compared to isoform 4. Variants 1, 3 and 4 all encode isoform 1.
      Source sequence(s)
      AI182992, AK168439, AK171328
      Consensus CDS
      CCDS85412.1
      UniProtKB/Swiss-Prot
      Q91ZM2
      Conserved Domains (3) summary
      cd10346
      Location:518 → 614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246 → 378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam08916
      Location:26 → 81
      Phe_ZIP; Phenylalanine zipper

    4. NM_001289540.1 → NP_001276469.1  SH2B adapter protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001276469.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, and includes an additional exon that results in a frameshift in the 3' coding region, compared to variant 7. The encoded isoform (1, also known as beta) has a distinct and shorter C-terminus, compared to isoform 4. Variants 1, 3 and 4 all encode isoform 1.
      Source sequence(s)
      AI182992, AK148085, AK168439, AK171328
      Consensus CDS
      CCDS85412.1
      UniProtKB/Swiss-Prot
      Q91ZM2
      Related
      ENSMUSP00000145554.2, ENSMUST00000205440.2
      Conserved Domains (3) summary
      cd10346
      Location:518 → 614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246 → 378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam08916
      Location:26 → 81
      Phe_ZIP; Phenylalanine zipper

    5. NM_001289541.1 → NP_001276470.1  SH2B adapter protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001276470.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, and uses an alternate splice site that results in a frameshift in the 3' coding region, compared to variant 7. The encoded isoform (3, also known as delta) has a distinct and shorter C-terminus, compared to isoform 4. Both variants 5 and 6 encode isoform 3.
      Source sequence(s)
      AI182992, AK171328, BC051978
      Consensus CDS
      CCDS85410.1
      UniProtKB/Swiss-Prot
      Q91ZM2
      Related
      ENSMUSP00000145842.2, ENSMUST00000205497.2
      Conserved Domains (3) summary
      cd10346
      Location:518 → 614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246 → 378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam08916
      Location:26 → 81
      Phe_ZIP; Phenylalanine zipper

    6. NM_001289542.1 → NP_001276471.1  SH2B adapter protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001276471.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate splice site that results in a frameshift in the 3' coding region, compared to variant 7. The encoded isoform (3, also known as delta) has a distinct and shorter C-terminus, compared to isoform 4. Both variants 5 and 6 encode isoform 3.
      Source sequence(s)
      AI182992, AK171328, BC051978, BY749559
      Consensus CDS
      CCDS85410.1
      UniProtKB/Swiss-Prot
      Q91ZM2
      Related
      ENSMUSP00000146282.2, ENSMUST00000205889.2
      Conserved Domains (3) summary
      cd10346
      Location:518 → 614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246 → 378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam08916
      Location:26 → 81
      Phe_ZIP; Phenylalanine zipper

    7. NM_011363.3 → NP_035493.2  SH2B adapter protein 1 isoform 2

      See identical proteins and their annotated locations for NP_035493.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and includes an additional exon that results in a frameshift in the 3' coding region, compared to variant 7. The encoded isoform (2, also known as gamma) has a distinct and shorter C-terminus, compared to isoform 4.
      Source sequence(s)
      AI182992, AK168439, AK171328, BC051978, BY749559
      Consensus CDS
      CCDS40126.1
      UniProtKB/Swiss-Prot
      Q91ZM2
      Related
      ENSMUSP00000032978.7, ENSMUST00000032978.8
      Conserved Domains (3) summary
      cd10346
      Location:518 → 614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246 → 378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam08916
      Location:26 → 81
      Phe_ZIP; Phenylalanine zipper

    RNA

    1. NR_110346.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) lacks an exon in the 5' region, and includes an additional exon in both the central and 3' regions, compared to variant 7. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 7, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA111114, AI182992, AK168439
      Related
      ENSMUST00000206664.2

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      126066165..126075882 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006507481.5 → XP_006507544.1  SH2B adapter protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006507544.1

      UniProtKB/Swiss-Prot
      O54867, Q05DJ7, Q792R7, Q91ZM2, Q91ZM3, Q91ZV5, Q9WVM5
      Conserved Domains (3) summary
      cd10346
      Location:518 → 614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246 → 378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam08916
      Location:26 → 81
      Phe_ZIP; Phenylalanine zipper

    2. XM_030242261.2 → XP_030098121.1  SH2B adapter protein 1 isoform X2

      Conserved Domains (3) summary
      cd10346
      Location:518 → 614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246 → 378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam08916
      Location:26 → 81
      Phe_ZIP; Phenylalanine zipper

    3. XM_006507482.3 → XP_006507545.1  SH2B adapter protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006507545.1

      UniProtKB/Swiss-Prot
      O54867, Q05DJ7, Q792R7, Q91ZM2, Q91ZM3, Q91ZV5, Q9WVM5
      Conserved Domains (3) summary
      cd10346
      Location:518 → 614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246 → 378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam08916
      Location:26 → 81
      Phe_ZIP; Phenylalanine zipper

    4. XM_006507478.5 → XP_006507541.1  SH2B adapter protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006507541.1

      UniProtKB/Swiss-Prot
      O54867, Q05DJ7, Q792R7, Q91ZM2, Q91ZM3, Q91ZV5, Q9WVM5
      Conserved Domains (3) summary
      cd10346
      Location:518 → 614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246 → 378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam08916
      Location:26 → 81
      Phe_ZIP; Phenylalanine zipper

    5. XM_006507480.5 → XP_006507543.1  SH2B adapter protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006507543.1

      UniProtKB/Swiss-Prot
      O54867, Q05DJ7, Q792R7, Q91ZM2, Q91ZM3, Q91ZV5, Q9WVM5
      Conserved Domains (3) summary
      cd10346
      Location:518 → 614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246 → 378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam08916
      Location:26 → 81
      Phe_ZIP; Phenylalanine zipper

    6. XM_030242260.2 → XP_030098120.1  SH2B adapter protein 1 isoform X2

      Conserved Domains (3) summary
      cd10346
      Location:518 → 614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246 → 378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam08916
      Location:26 → 81
      Phe_ZIP; Phenylalanine zipper

    7. XM_006507485.5 → XP_006507548.1  SH2B adapter protein 1 isoform X3

      See identical proteins and their annotated locations for XP_006507548.1

      UniProtKB/Swiss-Prot
      Q91ZM2
      Conserved Domains (3) summary
      cd10346
      Location:518 → 614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246 → 378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam08916
      Location:26 → 81
      Phe_ZIP; Phenylalanine zipper

    8. XM_006507487.5 → XP_006507550.1  SH2B adapter protein 1 isoform X4

      See identical proteins and their annotated locations for XP_006507550.1

      UniProtKB/Swiss-Prot
      Q91ZM2
      Conserved Domains (3) summary
      cd10346
      Location:518 → 614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246 → 378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam08916
      Location:26 → 81
      Phe_ZIP; Phenylalanine zipper

    RNA

    1. XR_003946424.2 RNA Sequence

    2. XR_004934045.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91ZM2.2 GenPept UniProtKB/Swiss-Prot:Q91ZM2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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