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

Gene ID: 25970, updated on 8-May-2016
Official Symbol
SH2B1provided by HGNC
Official Full Name
SH2B adaptor protein 1provided by HGNC
Primary source
HGNC:HGNC:30417
See related
Ensembl:ENSG00000178188 HPRD:12336; 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
107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC105371163 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

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
  • BDNF signaling pathway, organism-specific biosystem (from WikiPathways)
    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...
  • Nuclear signaling by ERBB4, organism-specific biosystem (from REACTOME)
    Nuclear signaling by ERBB4, organism-specific biosystemBesides signaling as a transmembrane receptor, ligand activated homodimers of ERBB4 JM-A isoforms (ERBB4 JM-A CYT1 and ERBB4 JM-A CYT2) undergo proteolytic cleavage by ADAM17 (TACE) in the juxtamembr...
  • 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 ERBB4, organism-specific biosystem (from REACTOME)
    Signaling by ERBB4, organism-specific biosystemERBB4, also known as HER4, belongs to the ERBB family of receptors, which also includes ERBB1 (EGFR i.e. HER1), ERBB2 (HER2 i.e. NEU) and ERBB3 (HER3). Similar to EGFR, ERBB4 has an extracellular lig...
  • 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 (3) summary
    pfam08916
    Location:2682
    Phe_ZIP; Phenylalanine zipper
    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
  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 (3) summary
    pfam08916
    Location:2682
    Phe_ZIP; Phenylalanine zipper
    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
  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 (3) summary
    pfam08916
    Location:2682
    Phe_ZIP; Phenylalanine zipper
    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
  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 (3) summary
    pfam08916
    Location:2682
    Phe_ZIP; Phenylalanine zipper
    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
  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
    UniProtKB/Swiss-Prot
    Q9NRF2
    UniProtKB/TrEMBL
    A0A024QZD2, B3KNV5
    Conserved Domains (3) summary
    pfam08916
    Location:2682
    Phe_ZIP; Phenylalanine zipper
    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
  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
    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 (3) summary
    pfam08916
    Location:2682
    Phe_ZIP; Phenylalanine zipper
    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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006721032.2XP_006721095.1  

    See identical proteins and their annotated locations for XP_006721095.1

    UniProtKB/TrEMBL
    A0A024QZ92
    Conserved Domains (3) summary
    pfam08916
    Location:2682
    Phe_ZIP; Phenylalanine zipper
    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
  2. XM_006721033.2XP_006721096.1  

    See identical proteins and their annotated locations for XP_006721096.1

    UniProtKB/TrEMBL
    A0A024QZ92
    Conserved Domains (3) summary
    pfam08916
    Location:2682
    Phe_ZIP; Phenylalanine zipper
    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
  3. XM_006721031.2XP_006721094.1  

    See identical proteins and their annotated locations for XP_006721094.1

    UniProtKB/TrEMBL
    A0A024QZ92
    Conserved Domains (3) summary
    pfam08916
    Location:2682
    Phe_ZIP; Phenylalanine zipper
    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
  4. XM_006721037.2XP_006721100.1  

    Related
    ENSP00000440354, OTTHUMP00000254562, ENST00000545570, OTTHUMT00000432669
    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
  5. XM_005255240.1XP_005255297.1  

    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
  6. XM_006721034.2XP_006721097.1  

    See identical proteins and their annotated locations for XP_006721097.1

    UniProtKB/TrEMBL
    A0A024QZ92
    Conserved Domains (3) summary
    pfam08916
    Location:2682
    Phe_ZIP; Phenylalanine zipper
    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
  7. XM_011545787.1XP_011544089.1  

    Conserved Domains (3) summary
    pfam08916
    Location:2682
    Phe_ZIP; Phenylalanine zipper
    cd10346
    Location:450546
    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
  8. XM_011545788.1XP_011544090.1  

    Conserved Domains (2) summary
    pfam08916
    Location:2682
    Phe_ZIP; Phenylalanine zipper
    cd01231
    Location:246378
    PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain

RNA

  1. XR_950774.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    29886916..29897372
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)