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

    Gene ID: 25970, updated on 23-Nov-2021

    Summary

    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
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SH2B1 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (28846606..28874205)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (28857927..28885526)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ataxin 2 like Neighboring gene microRNA 4721 Neighboring gene Tu translation elongation factor, mitochondrial Neighboring gene Sharpr-MPRA regulatory region 4004 Neighboring gene ATP2A1 antisense RNA 1 Neighboring gene ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 Neighboring gene rabaptin, RAB GTPase binding effector protein 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    GeneReviews: Not available
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    GeneReviews: Not available
    Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
    GeneReviews: Not available
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    GeneReviews: Not available
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    GeneReviews: Not available
    Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
    GeneReviews: Not available

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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
    PubMed 

    General protein information

    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)

    NEW Try the new Transcript table

    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
      22158..32614
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145795.2NP_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
      Q9NRF2
      UniProtKB/TrEMBL
      A0A024QZD2, B3KNV5, B4DLN5
      Related
      ENSP00000481709.1, ENST00000618521.4
      Conserved Domains (3) summary
      cd10346
      Location:518614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam08916
      Location:2681
      Phe_ZIP; Phenylalanine zipper
    2. NM_001145796.2NP_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/Swiss-Prot
      Q9NRF2
      UniProtKB/TrEMBL
      A0A024QZC2, B3KNV5, B4DLN5
      Conserved Domains (4) summary
      cd10346
      Location:518614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam00169
      Location:312376
      PH; PH domain
      pfam08916
      Location:2681
      Phe_ZIP; Phenylalanine zipper
    3. NM_001145797.2NP_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/Swiss-Prot
      Q9NRF2
      UniProtKB/TrEMBL
      A0A024QZ92, B3KNV5, B4DLN5
      Related
      ENSP00000352232.5, ENST00000359285.9
      Conserved Domains (4) summary
      cd10346
      Location:518614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam00169
      Location:312376
      PH; PH domain
      pfam08916
      Location:2681
      Phe_ZIP; Phenylalanine zipper
    4. NM_001145812.2NP_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/Swiss-Prot
      Q9NRF2
      UniProtKB/TrEMBL
      A0A024QZC2
      Related
      ENSP00000378903.4, ENST00000395532.8
      Conserved Domains (4) summary
      cd10346
      Location:518614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam00169
      Location:312376
      PH; PH domain
      pfam08916
      Location:2681
      Phe_ZIP; Phenylalanine zipper
    5. NM_001308293.2NP_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
      Q9NRF2
      UniProtKB/TrEMBL
      A0A024QZD2, B3KNV5
      Related
      ENSP00000321221.7, ENST00000322610.12
      Conserved Domains (3) summary
      cd10346
      Location:518614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam08916
      Location:2681
      Phe_ZIP; Phenylalanine zipper
    6. NM_001308294.2NP_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/Swiss-Prot
      Q9NRF2
      UniProtKB/TrEMBL
      B4DLN5
      Related
      ENSP00000438784.1, ENST00000538342.5
      Conserved Domains (2) summary
      cd10346
      Location:182278
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cl17171
      Location:142
      PH-like; Pleckstrin homology-like domain
    7. NM_001387404.1NP_001374333.1  SH2B adapter protein 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC133550
      Conserved Domains (3) summary
      cd10346
      Location:518614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam08916
      Location:2681
      Phe_ZIP; Phenylalanine zipper
    8. NM_001387430.1NP_001374359.1  SH2B adapter protein 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC133550
      Related
      ENSP00000507475.1, ENST00000684370.1
      Conserved Domains (3) summary
      cd10346
      Location:518614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam08916
      Location:2681
      Phe_ZIP; Phenylalanine zipper
    9. NM_015503.3NP_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/Swiss-Prot
      Q9NRF2
      UniProtKB/TrEMBL
      A0A024QZC2
      Related
      ENSP00000337163.5, ENST00000337120.9
      Conserved Domains (4) summary
      cd10346
      Location:518614
      SH2_SH2B_family; Src homology 2 (SH2) domain found in SH2B adapter protein family
      cd01231
      Location:246378
      PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
      pfam00169
      Location:312376
      PH; PH domain
      pfam08916
      Location:2681
      Phe_ZIP; Phenylalanine zipper

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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