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

    Gene ID: 25970, updated on 12-Mar-2017
    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; Vega:OTTHUMG00000176590
    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]
    Orthologs
    Location:
    16p11.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (28846600..28874213)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (28872939..28885534)

    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 ATP2A1 antisense RNA 1 Neighboring gene ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 Neighboring gene rabaptin, RAB GTPase binding effector protein 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2014-09-11)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated (2014-09-11)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    NHGRI GWA Catalog
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    NHGRI GWA Catalog
    Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    NHGRI GWA Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    NHGRI GWA Catalog
    Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
    NHGRI GWA Catalog
    • Brain-Derived Neurotrophic Factor (BDNF) signaling pathway, organism-specific biosystem (from WikiPathways)
      Brain-Derived Neurotrophic Factor (BDNF) signaling pathway, organism-specific biosystemBrain-derived neurotrophic factor (BDNF) is a neurotrophin essential for growth, differentiation, plasticity, and survival of neurons. BDNF is also required for processes such as energy metabolism, b...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
      Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
    • Growth hormone receptor signaling, organism-specific biosystem (from REACTOME)
      Growth hormone receptor signaling, organism-specific biosystemGrowth hormone (Somatotropin or GH) is a key factor in determining lean body mass, stimulating the growth and metabolism of muscle, bone and cartilage cells, while reducing body fat. It has many othe...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Leptin signaling pathway, organism-specific biosystem (from WikiPathways)
      Leptin signaling pathway, organism-specific biosystemLeptin is a peptide hormone mainly synthesised and secreted from adipocytes. It is also expressed in other tissues including placenta, stomach and skeletal muscle. Leptin mediates its effects by bind...
    • Neurotrophin signaling pathway, organism-specific biosystem (from KEGG)
      Neurotrophin signaling pathway, organism-specific biosystemNeurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic facto...
    • Neurotrophin signaling pathway, conserved biosystem (from KEGG)
      Neurotrophin signaling pathway, conserved biosystemNeurotrophins are a family of trophic factors involved in differentiation and survival of neural cells. The neurotrophin family consists of nerve growth factor (NGF), brain derived neurotrophic facto...
    • Prolactin receptor signaling, organism-specific biosystem (from REACTOME)
      Prolactin receptor signaling, organism-specific biosystemProlactin (PRL) is a hormone secreted mainly by the anterior pituitary gland. It was originally identified by its ability to stimulate the development of the mammary gland and lactation, but is now k...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Leptin, organism-specific biosystem (from REACTOME)
      Signaling by Leptin, organism-specific biosystemLeptin (LEP, OB, OBS), a circulating adipokine, and its receptor LEPR (DB, OBR) control food intake and energy balance and are implicated in obesity-related diseases (recently reviewed in Amitani et ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ30542, KIAA1299, DKFZp547G1110

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signal transducer activity IEA
    Inferred from Electronic Annotation
    more info
     
    signaling adaptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    lamellipodium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of mitotic nuclear division IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of DNA biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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
      5001..32614
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001139267.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1), also known as SH2B adaptor protein 1 alpha.
      Source sequence(s)
      AF227967, AK055104, AK297080, BC010704, DA490578, DB026545
      Consensus CDS
      CCDS53996.1
      UniProtKB/Swiss-Prot
      Q9NRF2
      UniProtKB/TrEMBL
      A0A024QZD2, B3KNV5, B4DLN5
      Related
      ENSP00000481709, ENST00000618521
      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
    2. NM_001145796.1NP_001139268.1  SH2B adapter protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001139268.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate exon in the 3' coding region, which results in a frameshift and an early stop codon compared to variant 1. The resulting protein (isoform 2), also known as SH2B adaptor protein 1 beta, is shorter and has a distinct C-terminus compared to isoform 1. Variants 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AK055104, AK297080, BC010704, DA490578, DB026545
      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_001145797.1NP_001139269.1  SH2B adapter protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001139269.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site and contains an alternate exon in the 3' coding region, which results in frameshift and an early stop codon compared to variant 1. The resulting protein (isoform 3), also known as SH2B adaptor protein 1 gamma, is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AF227969, AK055104, AK297080, BC010704, DA490578, DB026545
      Consensus CDS
      CCDS53997.1
      UniProtKB/Swiss-Prot
      Q9NRF2
      UniProtKB/TrEMBL
      A0A024QZ92, B3KNV5, B4DLN5
      Related
      ENSP00000352232, OTTHUMP00000254563, ENST00000359285, OTTHUMT00000432670
      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_001145812.1NP_001139284.1  SH2B adapter protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001139284.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and contains an alternate exon in the 3' coding region, which results in a frameshift and an early stop codon compared to variant 1. The resulting protein (isoform 2), also known as SH2B adaptor protein 1 beta, is shorter and has a distinct C-terminus compared to isoform 1. Variants 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AB037720, AK290332, BC010704
      Consensus CDS
      CCDS32424.1
      UniProtKB/Swiss-Prot
      Q9NRF2
      UniProtKB/TrEMBL
      A0A024QZC2
      Related
      ENSP00000378903, OTTHUMP00000254565, ENST00000395532, OTTHUMT00000432673
      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_001308293.1NP_001295222.1  SH2B adapter protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001295222.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1 and 6 encoded the same isoform (1), also known as SH2B adaptor protein 1 alpha
      Source sequence(s)
      AC133550, AK055104, BC010704, DA338190
      Consensus CDS
      CCDS53996.1
      UniProtKB/Swiss-Prot
      Q9NRF2
      UniProtKB/TrEMBL
      A0A024QZD2, B3KNV5
      Related
      ENSP00000321221, OTTHUMP00000254559, ENST00000322610, OTTHUMT00000432666
      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
    6. NM_001308294.1NP_001295223.1  SH2B adapter protein 1 isoform 4

      See identical proteins and their annotated locations for NP_001295223.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks a portion of the 5' UTR and 5' coding region which results in the use of a downstream AUG compared to variant 1. The encoded isoform (4) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AK297080, BC010704, DB026545
      Consensus CDS
      CCDS76851.1
      UniProtKB/Swiss-Prot
      Q9NRF2
      UniProtKB/TrEMBL
      B4DLN5
      Related
      ENSP00000438784, OTTHUMP00000254564, ENST00000538342, OTTHUMT00000432671
      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_015503.2NP_056318.2  SH2B adapter protein 1 isoform 2

      See identical proteins and their annotated locations for NP_056318.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and contains an alternate exon in the 3' coding region, which results in a frameshift and an early stop codon compared to variant 1. The resulting protein (isoform 2), also known as SH2B adaptor protein 1 beta, is shorter and has a distinct C-terminus compared to isoform 1. Variants 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AC133550, AK290332, AL713760, BC010704
      Consensus CDS
      CCDS32424.1
      UniProtKB/Swiss-Prot
      Q9NRF2
      UniProtKB/TrEMBL
      A0A024QZC2
      Related
      ENSP00000337163, OTTHUMP00000254560, ENST00000337120, OTTHUMT00000432667
      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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      28846600..28874213
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023115.1XP_016878604.1  SH2B adapter protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q9NRF2
      UniProtKB/TrEMBL
      A0A024QZD2
      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
    2. XM_017023118.1XP_016878607.1  SH2B adapter protein 1 isoform X3

    3. XM_017023119.1XP_016878608.1  SH2B adapter protein 1 isoform X3

    4. XM_017023116.1XP_016878605.1  SH2B adapter protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q9NRF2
      UniProtKB/TrEMBL
      A0A024QZD2
      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. XM_017023114.1XP_016878603.1  SH2B adapter protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q9NRF2
      UniProtKB/TrEMBL
      A0A024QZD2
      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
    6. XM_017023117.1XP_016878606.1  SH2B adapter protein 1 isoform X2

    7. XM_017023120.1XP_016878609.1  SH2B adapter protein 1 isoform X4

    RNA

    1. XR_001751890.1 RNA Sequence

    2. XR_950774.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      29869765..29897372
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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