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

Summary

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 cell motility and 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, Nov 2024]
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

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Endonuclease-mediated (8) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Sh2b1 (e-PCR), detects polymorphism
- UniSTS:158758

PMC133757P1 (e-PCR)
- UniSTS:270653

UniSTS:279423 (e-PCR)
- UniSTS:279423

Sh2b1 (e-PCR), detects polymorphism
- UniSTS:279423

AI425885 (e-PCR)
- UniSTS:179649

AF020526 (e-PCR)
- UniSTS:159696

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
involved_in positive regulation of SMAD protein signal transduction	IEA Inferred from Electronic Annotation more info
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 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)

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
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
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
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
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
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
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

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

NC_000073.7 Reference GRCm39 C57BL/6J

Range

126066165..126075882 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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
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