SH2B1 (SH2B adaptor protein 1)

2008-08-01  

Identity

HGNC
SH2B1
LOCATION
16p11.2
LOCUSID
25970
ALIAS
PSM,SH2B

Other Information

Locus ID:

NCBI: 25970
MIM: 608937
HGNC: 30417
Ensembl: ENSG00000178188

Variants:

dbSNP: 25970
ClinVar: 25970
TCGA: ENSG00000178188
COSMIC: SH2B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000178188ENST00000322610Q9NRF2
ENSG00000178188ENST00000322610A0A024QZD2
ENSG00000178188ENST00000337120Q9NRF2
ENSG00000178188ENST00000337120A0A024QZC2
ENSG00000178188ENST00000359285Q9NRF2
ENSG00000178188ENST00000359285A0A024QZ92
ENSG00000178188ENST00000395532Q9NRF2
ENSG00000178188ENST00000395532A0A024QZC2
ENSG00000178188ENST00000538342B4DLN5
ENSG00000178188ENST00000545570F5GXU7
ENSG00000178188ENST00000561629H3BMY3
ENSG00000178188ENST00000563591H3BVF6
ENSG00000178188ENST00000566176H3BPZ4
ENSG00000178188ENST00000566209H3BTK4
ENSG00000178188ENST00000567536H3BPB4
ENSG00000178188ENST00000568868H3BTT2
ENSG00000178188ENST00000569651H3BUN7
ENSG00000178188ENST00000618521Q9NRF2
ENSG00000178188ENST00000618521A0A024QZD2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Neurotrophin signaling pathwayKEGGko04722
Neurotrophin signaling pathwayKEGGhsa04722
Immune SystemREACTOMER-HSA-168256
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Growth hormone receptor signalingREACTOMER-HSA-982772
Prolactin receptor signalingREACTOMER-HSA-1170546
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231
Signal TransductionREACTOMER-HSA-162582
Signaling by LeptinREACTOMER-HSA-2586552

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10026aripiprazoleChemicalClinicalAnnotationassociatedPD28694205
PA162565877amisulprideChemicalClinicalAnnotationassociatedPD28694205
PA163518919paliperidoneChemicalClinicalAnnotationassociatedPD28694205
PA166123368schizoaffective disorderDiseaseClinicalAnnotationassociatedPD28694205
PA447199Bipolar DisorderDiseaseClinicalAnnotationassociatedPD28694205
PA447207Depressive DisorderDiseaseClinicalAnnotationassociatedPD28694205
PA447215Psychotic DisordersDiseaseClinicalAnnotationassociatedPD28694205
PA449061clozapineChemicalClinicalAnnotationassociatedPD28694205
PA450243lithiumChemicalClinicalAnnotationassociatedPD28694205
PA450522mirtazapineChemicalClinicalAnnotationassociatedPD28694205
PA450688olanzapineChemicalClinicalAnnotationassociatedPD28694205
PA451201quetiapineChemicalClinicalAnnotationassociatedPD28694205
PA451257risperidoneChemicalClinicalAnnotationassociatedPD28694205
PA451846valproic acidChemicalClinicalAnnotationassociatedPD28694205

References

Pubmed IDYearTitleCitations
190792612009Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.700
190792602009Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.517
191643862009Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden.104
196924902009Obesity genes identified in genome-wide association studies are associated with adiposity measures and potentially with nutrient-specific food preference.77
208082312010Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.71
207245812010Genetic susceptibility to obesity and related traits in childhood and adolescence: influence of loci identified by genome-wide association studies.47
202153972010Implication of genetic variants near NEGR1, SEC16B, TMEM18, ETV5/DGKG, GNPDA2, LIN7C/BDNF, MTCH2, BCDIN3D/FAIM2, SH2B1, FTO, MC4R, and KCTD15 with obesity and type 2 diabetes in 7705 Chinese.44
208161952010Analyses of shared genetic factors between asthma and obesity in children.43
198513402009Association between obesity and polymorphisms in SEC16B, TMEM18, GNPDA2, BDNF, FAIM2 and MC4R in a Japanese population.37
231601922012Human SH2B1 mutations are associated with maladaptive behaviors and obesity.36

Citation

Dessen P

SH2B1 (SH2B adaptor protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-08-01

Online version: http://atlasgeneticsoncology.org/gene/50281/sh2b1