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SH2B3 SH2B adaptor protein 3 [ Homo sapiens (human) ]

Gene ID: 10019, updated on 3-May-2020

Summary

Official Symbol
SH2B3provided by HGNC
Official Full Name
SH2B adaptor protein 3provided by HGNC
Primary source
HGNC:HGNC:29605
See related
Ensembl:ENSG00000111252 MIM:605093
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
LNK; IDDM20
Summary
This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
Expression
Ubiquitous expression in bone marrow (RPKM 12.8), spleen (RPKM 12.6) and 25 other tissues See more
Orthologs

Genomic context

See SH2B3 in Genome Data Viewer
Location:
12q24.12
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (111405107..111451623)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (111843720..111889427)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 14 Neighboring gene long intergenic non-protein coding RNA 2356 Neighboring gene ataxin 2 Neighboring gene IFITM3 pseudogene 5 Neighboring gene ATXN2 antisense RNA

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
Myelofibrosis
MedGen: C0001815 OMIM: 254450 GeneReviews: Not available
Compare labs
Primary familial polycythemia due to EPO receptor mutation Compare labs
Thrombocythemia 1
MedGen: C3277671 OMIM: 187950 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
NHGRI GWA Catalog
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
NHGRI GWA Catalog
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
NHGRI GWA Catalog
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
NHGRI GWA Catalog
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
NHGRI GWA Catalog
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
NHGRI GWA Catalog
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
NHGRI GWA Catalog
Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.
NHGRI GWA Catalog
Genome-wide association study identifies eight loci associated with blood pressure.
NHGRI GWA Catalog
Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.
NHGRI GWA Catalog
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
NHGRI GWA Catalog
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
NHGRI GWA Catalog
Genome-wide association study of blood pressure and hypertension.
NHGRI GWA Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.
NHGRI GWA Catalog
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
NHGRI GWA Catalog
Multiple common variants for celiac disease influencing immune gene expression.
NHGRI GWA Catalog
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
NHGRI GWA Catalog
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog
Newly identified genetic risk variants for celiac disease related to the immune response.
NHGRI GWA Catalog
Novel associations for hypothyroidism include known autoimmune risk loci.
NHGRI GWA Catalog
Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.
NHGRI GWA Catalog
Seventy-five genetic loci influencing the human red blood cell.
NHGRI GWA Catalog
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
NHGRI GWA Catalog
The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine kinase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
stem cell factor receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
transmembrane receptor protein tyrosine kinase adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
cellular response to chemokine ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to interleukin-3 ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic hemopoiesis ISS
Inferred from Sequence or Structural Similarity
more info
 
erythrocyte development IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
megakaryocyte development ISS
Inferred from Sequence or Structural Similarity
more info
 
monocyte homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of JAK-STAT cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of Kit signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of MAP kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of chemokine-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of platelet aggregation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of protein kinase B signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of response to cytokine stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of tyrosine phosphorylation of STAT protein ISS
Inferred from Sequence or Structural Similarity
more info
 
neutrophil homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
thrombopoietin-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
thrombopoietin-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
thrombopoietin-mediated signaling pathway TAS
Traceable Author Statement
more info
PubMed 
transmembrane receptor protein tyrosine kinase signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
SH2B adapter protein 3
Names
lymphocyte-specific adapter protein Lnk
signal transduction protein Lnk

NCBI Reference Sequences (RefSeq)

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_021216.1 RefSeqGene

    Range
    5001..50676
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_621

mRNA and Protein(s)

  1. NM_001291424.1NP_001278353.1  SH2B adapter protein 3 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate exons in the 5' region, including a portion of the 5' coding region, and initiates translation at an alternate start codon in an alternate exon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AB208911, AK302173, BC015786, BC136451
    Consensus CDS
    CCDS76602.1
    UniProtKB/Swiss-Prot
    Q9UQQ2
    UniProtKB/TrEMBL
    B7Z7K6, F5GYM4, Q59H48, Q96BA5
    Related
    ENSP00000440597.1, ENST00000538307.1
    Conserved Domains (2) summary
    cd10412
    Location:153249
    SH2_SH2B3; Src homology 2 (SH2) domain found in SH2B adapter proteins (SH2B1, SH2B2, SH2B3)
    cl17171
    Location:1107
    PH-like; Pleckstrin homology-like domain
  2. NM_005475.3NP_005466.1  SH2B adapter protein 3 isoform 1

    See identical proteins and their annotated locations for NP_005466.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB208911, AC005805, AF055581
    Consensus CDS
    CCDS9153.1
    UniProtKB/Swiss-Prot
    Q9UQQ2
    UniProtKB/TrEMBL
    Q59H48
    Related
    ENSP00000345492.2, ENST00000341259.7
    Conserved Domains (3) summary
    cd10412
    Location:355451
    SH2_SH2B3; Src homology 2 (SH2) domain found in SH2B adapter proteins (SH2B1, SH2B2, SH2B3)
    cd01231
    Location:194309
    PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
    pfam08916
    Location:2580
    Phe_ZIP; Phenylalanine zipper

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    111405107..111451623
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537720.3XP_011536022.1  SH2B adapter protein 3 isoform X1

    See identical proteins and their annotated locations for XP_011536022.1

    Conserved Domains (3) summary
    cd10412
    Location:396492
    SH2_SH2B3; Src homology 2 (SH2) domain found in SH2B adapter proteins (SH2B1, SH2B2, SH2B3)
    cd01231
    Location:194349
    PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
    pfam08916
    Location:2580
    Phe_ZIP; Phenylalanine zipper
  2. XM_024448790.1XP_024304558.1  SH2B adapter protein 3 isoform X5

    Conserved Domains (2) summary
    pfam08916
    Location:2580
    Phe_ZIP; Phenylalanine zipper
    cl17171
    Location:194251
    PH-like; Pleckstrin homology-like domain
  3. XM_011537719.2XP_011536021.1  SH2B adapter protein 3 isoform X1

    See identical proteins and their annotated locations for XP_011536021.1

    Conserved Domains (3) summary
    cd10412
    Location:396492
    SH2_SH2B3; Src homology 2 (SH2) domain found in SH2B adapter proteins (SH2B1, SH2B2, SH2B3)
    cd01231
    Location:194349
    PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
    pfam08916
    Location:2580
    Phe_ZIP; Phenylalanine zipper
  4. XM_005253818.4XP_005253875.1  SH2B adapter protein 3 isoform X2

    Conserved Domains (3) summary
    cd10412
    Location:395491
    SH2_SH2B3; Src homology 2 (SH2) domain found in SH2B adapter proteins (SH2B1, SH2B2, SH2B3)
    cd01231
    Location:194349
    PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
    pfam08916
    Location:2580
    Phe_ZIP; Phenylalanine zipper
  5. XM_005253819.4XP_005253876.1  SH2B adapter protein 3 isoform X3

    Conserved Domains (3) summary
    cd10412
    Location:356452
    SH2_SH2B3; Src homology 2 (SH2) domain found in SH2B adapter proteins (SH2B1, SH2B2, SH2B3)
    cd01231
    Location:194309
    PH_SH2B_family; SH2B adapter protein 1, 2, and 3 Pleckstrin homology (PH) domain
    pfam08916
    Location:2580
    Phe_ZIP; Phenylalanine zipper
  6. XM_011537721.3XP_011536023.1  SH2B adapter protein 3 isoform X4

    Conserved Domains (2) summary
    cd10412
    Location:154250
    SH2_SH2B3; Src homology 2 (SH2) domain found in SH2B adapter proteins (SH2B1, SH2B2, SH2B3)
    cl17171
    Location:1107
    PH-like; Pleckstrin homology-like domain
  7. XM_006719180.4XP_006719243.1  SH2B adapter protein 3 isoform X6

    Conserved Domains (2) summary
    cd10412
    Location:89185
    SH2_SH2B3; Src homology 2 (SH2) domain found in SH2B adapter proteins (SH2B1, SH2B2, SH2B3)
    cl17171
    Location:142
    PH-like; Pleckstrin homology-like domain

RNA

  1. XR_001748535.1 RNA Sequence

  2. XR_001748536.1 RNA Sequence

  3. XR_002957278.1 RNA Sequence

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