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    SH2B1 SH2B adaptor protein 1 [ Homo sapiens (human) ]

    Gene ID: 25970, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SH2B1provided by HGNC
    Official Full Name
    SH2B adaptor protein 1provided by HGNC
    Primary source
    HGNC:HGNC:30417
    See related
    Ensembl:ENSG00000178188 MIM:608937; AllianceGenome:HGNC:30417
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PSM; SH2B
    Summary
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 12.3), spleen (RPKM 12.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SH2B1 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (28846606..28874205)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (29127175..29154707)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (28857927..28885526)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903672 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:28833599-28834335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7313 Neighboring gene ataxin 2 like Neighboring gene ReSE screen-validated silencer GRCh37_chr16:28853164-28853321 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10645 Neighboring gene MPRA-validated peak2552 silencer Neighboring gene microRNA 4721 Neighboring gene Tu translation elongation factor, mitochondrial Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10646 Neighboring gene Sharpr-MPRA regulatory region 4004 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:28885274-28885774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:28885775-28886275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:28890195-28890968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7316 Neighboring gene ATP2A1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:28894492-28895301 Neighboring gene ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:28917069-28917917 Neighboring gene rabaptin, RAB GTPase binding effector protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10650 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7318

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease. Hanssen R, et al. Cell Rep Med, 2023 Aug 15. PMID 37586323, Free PMC Article
    2. The SH2B1 obesity locus and abnormal glucose homeostasis: lack of evidence for association from a meta-analysis in individuals of European ancestry. Prudente S, et al. Nutr Metab Cardiovasc Dis, 2013 Nov. PMID 24103803
    3. Mutation screen in the GWAS derived obesity gene SH2B1 including functional analyses of detected variants. Volckmar AL, et al. BMC Med Genomics, 2012 Dec 27. PMID 23270367, Free PMC Article
    4. Human SH2B1 mutations are associated with maladaptive behaviors and obesity. Doche ME, et al. J Clin Invest, 2012 Dec. PMID 23160192, Free PMC Article
    5. Signaling adaptor protein SH2B1 enhances neurite outgrowth and accelerates the maturation of human induced neurons. Hsu YC, et al. Stem Cells Transl Med, 2014 Jun. PMID 24736401, Free PMC Article

    See all (111) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Association between Obesity Susceptibility and Polymorphisms of MC4R, SH2B1, and NEGR1 in Tibetans.
      Title: The Association between Obesity Susceptibility and Polymorphisms of MC4R, SH2B1, and NEGR1 in Tibetans.
    2. Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease.
      Title: Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease.
    3. SH2B1 variants as potential causes of non-syndromic monogenic obesity in a Brazilian cohort.
      Title: SH2B1 variants as potential causes of non-syndromic monogenic obesity in a Brazilian cohort.
    4. Genetic Obesity in Children: Overview of Possible Diagnoses with a Focus on SH2B1 Deletion.
      Title: Genetic Obesity in Children: Overview of Possible Diagnoses with a Focus on SH2B1 Deletion.
    5. BBOX1-AS1 contributes to colorectal cancer progression by sponging hsa-miR-361-3p and targeting SH2B1.
      Title: BBOX1-AS1 contributes to colorectal cancer progression by sponging hsa-miR-361-3p and targeting SH2B1.
    6. Hsa_circ_0075960 Serves as a Sponge for miR-361-3p/SH2B1 in Endometrial Carcinoma.
      Title: Hsa_circ_0075960 Serves as a Sponge for miR-361-3p/SH2B1 in Endometrial Carcinoma.
    7. Association of the SH2B1 rs7359397 Gene Polymorphism with Steatosis Severity in Subjects with Obesity and Non-Alcoholic Fatty Liver Disease.
      Title: Association of the SH2B1 rs7359397 Gene Polymorphism with Steatosis Severity in Subjects with Obesity and Non-Alcoholic Fatty Liver Disease.
    8. 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.
    9. provide a mini overview of the roles of SH2B1 in cancer.
      Title: New perspective on SH2B1: An accelerator of cancer progression.
    10. Hsa_circ_0136666 promotes the proliferation and invasion of colorectal cancer through miR-136/SH2B1 axis.
      Title: Hsa_circ_0136666 promotes the proliferation and invasion of colorectal cancer through miR-136/SH2B1 axis.
    Submit: New GeneRIF Correction See all GeneRIFs (55)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-07-13)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2021-07-13)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    EBI GWAS Catalog
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog
    Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Clone Names

    • FLJ30542, KIAA1299, DKFZp547G1110

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane receptor protein tyrosine kinase adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell motility IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell surface receptor protein tyrosine kinase signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lamellipodium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within positive regulation of SMAD protein signal transduction IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of mitotic nuclear division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    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
    		  

    General protein information

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    Preferred Names
    SH2B adapter protein 1
    Names
    SH2 domain-containing protein 1B
    SH2 domain-containing putative adapter SH2-B
    SH2-B signaling protein
    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.

    Genomic

    1. NG_029706.2 RefSeqGene

      Range
      22244..32606
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145795.2 → NP_001139267.1  SH2B adapter protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001139267.1

      Status: REVIEWED

      Source sequence(s)
      AF227967, AK055104, AK297080, DA490578
      Consensus CDS
      CCDS53996.1
      UniProtKB/Swiss-Prot
      A8K2R7, Q96FK3, Q96SX3, Q9NRF1, Q9NRF2, Q9NRF3, Q9P2P7, Q9Y3Y3
      UniProtKB/TrEMBL
      B3KNV5
      Related
      ENSP00000481709.1, ENST00000618521.4
      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_001145796.2 → NP_001139268.1  SH2B adapter protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001139268.1

      Status: REVIEWED

      Source sequence(s)
      AK055104, AK297080, BC010704, DA490578
      Consensus CDS
      CCDS32424.1
      UniProtKB/TrEMBL
      B3KNV5
      Related
      ENSP00000516756.1, ENST00000707128.1
      Conserved Domains (4) 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
      pfam00169
      Location:312 → 376
      PH; PH domain
      pfam08916
      Location:26 → 81
      Phe_ZIP; Phenylalanine zipper

    3. NM_001145797.2 → NP_001139269.1  SH2B adapter protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001139269.1

      Status: REVIEWED

      Source sequence(s)
      AF227969, AK055104, AK297080, DA490578
      Consensus CDS
      CCDS53997.1
      UniProtKB/TrEMBL
      B3KNV5
      Related
      ENSP00000352232.5, ENST00000359285.10
      Conserved Domains (4) 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
      pfam00169
      Location:312 → 376
      PH; PH domain
      pfam08916
      Location:26 → 81
      Phe_ZIP; Phenylalanine zipper

    4. NM_001145812.2 → NP_001139284.1  SH2B adapter protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001139284.1

      Status: REVIEWED

      Source sequence(s)
      AC133550
      Consensus CDS
      CCDS32424.1
      UniProtKB/TrEMBL
      B3KNV5
      Related
      ENSP00000378903.4, ENST00000395532.8
      Conserved Domains (4) 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
      pfam00169
      Location:312 → 376
      PH; PH domain
      pfam08916
      Location:26 → 81
      Phe_ZIP; Phenylalanine zipper

    5. NM_001308293.2 → NP_001295222.1  SH2B adapter protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001295222.1

      Status: REVIEWED

      Source sequence(s)
      AC133550, AK055104, BC010704, DA338190
      Consensus CDS
      CCDS53996.1
      UniProtKB/Swiss-Prot
      A8K2R7, Q96FK3, Q96SX3, Q9NRF1, Q9NRF2, Q9NRF3, Q9P2P7, Q9Y3Y3
      UniProtKB/TrEMBL
      B3KNV5
      Related
      ENSP00000321221.7, ENST00000322610.12
      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_001308294.2 → NP_001295223.1  SH2B adapter protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001295223.1

      Status: REVIEWED

      Source sequence(s)
      AK297080, BC010704
      Consensus CDS
      CCDS76851.1
      UniProtKB/TrEMBL
      B4DLN5, F5GXU7
      Related
      ENSP00000438784.1, ENST00000538342.5
      Conserved Domains (2) summary
      cd10346
      Location:182 → 278
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cl17171
      Location:1 → 42
      PH-like; Pleckstrin homology-like domain

    7. NM_001387404.1 → NP_001374333.1  SH2B adapter protein 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC133550
      Consensus CDS
      CCDS53996.1
      UniProtKB/Swiss-Prot
      A8K2R7, Q96FK3, Q96SX3, Q9NRF1, Q9NRF2, Q9NRF3, Q9P2P7, Q9Y3Y3
      UniProtKB/TrEMBL
      B3KNV5
      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. NM_001387430.1 → NP_001374359.1  SH2B adapter protein 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC133550
      Consensus CDS
      CCDS53996.1
      UniProtKB/Swiss-Prot
      A8K2R7, Q96FK3, Q96SX3, Q9NRF1, Q9NRF2, Q9NRF3, Q9P2P7, Q9Y3Y3
      UniProtKB/TrEMBL
      B3KNV5
      Related
      ENSP00000507475.1, ENST00000684370.1
      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

    9. NM_015503.3 → NP_056318.2  SH2B adapter protein 1 isoform 2

      See identical proteins and their annotated locations for NP_056318.2

      Status: REVIEWED

      Source sequence(s)
      AC133550
      Consensus CDS
      CCDS32424.1
      UniProtKB/TrEMBL
      B3KNV5
      Related
      ENSP00000337163.5, ENST00000337120.9
      Conserved Domains (4) 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
      pfam00169
      Location:312 → 376
      PH; PH domain
      pfam08916
      Location:26 → 81
      Phe_ZIP; Phenylalanine zipper

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      28846606..28874205
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      29127175..29154707
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NRF2.3 GenPept UniProtKB/Swiss-Prot:Q9NRF2

    Gene LinkOut

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

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