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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

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