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
375863232023Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease.5
375863232023Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease.5
319846802022BBOX1-AS1 contributes to colorectal cancer progression by sponging hsa-miR-361-3p and targeting SH2B1.20
346891402022Genetic Obesity in Children: Overview of Possible Diagnoses with a Focus on SH2B1 Deletion.1
364361432022SH2B1 variants as potential causes of non-syndromic monogenic obesity in a Brazilian cohort.0
319846802022BBOX1-AS1 contributes to colorectal cancer progression by sponging hsa-miR-361-3p and targeting SH2B1.20
346891402022Genetic Obesity in Children: Overview of Possible Diagnoses with a Focus on SH2B1 Deletion.1
364361432022SH2B1 variants as potential causes of non-syndromic monogenic obesity in a Brazilian cohort.0
317391662020New perspective on SH2B1: An accelerator of cancer progression.4
322512902020Leptin receptor-expressing neuron Sh2b1 supports sympathetic nervous system and protects against obesity and metabolic disease.30
323656832020Association of the SH2B1 rs7359397 Gene Polymorphism with Steatosis Severity in Subjects with Obesity and Non-Alcoholic Fatty Liver Disease.7
333569892020Hsa_circ_0075960 Serves as a Sponge for miR-361-3p/SH2B1 in Endometrial Carcinoma.3
317391662020New perspective on SH2B1: An accelerator of cancer progression.4
322512902020Leptin receptor-expressing neuron Sh2b1 supports sympathetic nervous system and protects against obesity and metabolic disease.30
323656832020Association of the SH2B1 rs7359397 Gene Polymorphism with Steatosis Severity in Subjects with Obesity and Non-Alcoholic Fatty Liver Disease.7

Citation

Dessen P

SH2B1 (SH2B adaptor protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-08-01

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