SH2B1

SH2B adapter protein 1 is a protein that in humans is encoded by the SH2B1 gene.^[5][6][7]

SH2B1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2HDV, 2HDX
Identifiers
Aliases	SH2B1, PSM, SH2B, SH2B adaptor protein 1
External IDs	OMIM: 608937; MGI: 1201407; HomoloGene: 32122; GeneCards: SH2B1; OMA:SH2B1 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p11.2 Start 28,846,600 bp[1] End 28,874,212 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 F3|7 69.06 cM Start 126,066,166 bp[2] End 126,074,596 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum mucosa of transverse colon right lobe of thyroid gland right uterine tube apex of heart left lobe of thyroid gland anterior pituitary right ovary left ovary right frontal lobe Top expressed in neural layer of retina granulocyte muscle of thigh molar lip superior frontal gyrus primary visual cortex thymus ankle quadriceps femoris muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function signaling adaptor activity protein binding transmembrane receptor protein tyrosine kinase adaptor activity Cellular component cytosol nucleus membrane cytoplasm plasma membrane Biological process positive regulation of signal transduction positive regulation of mitotic nuclear division blood coagulation lamellipodium assembly signal transduction regulation of DNA biosynthetic process transmembrane receptor protein tyrosine kinase signaling pathway intracellular signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 25970 20399 Ensembl ENSG00000178188 ENSMUSG00000030733 UniProt Q9NRF2 Q91ZM2 RefSeq (mRNA) NM_001145795 NM_001145796 NM_001145797 NM_001145812 NM_001308293 NM_001308294 NM_015503 NM_001387404 NM_001387430 NM_001081459 NM_001289538 NM_001289539 NM_001289540 NM_001289541 NM_001289542 NM_011363 RefSeq (protein) NP_001139267 NP_001139268 NP_001139269 NP_001139284 NP_001295222 NP_001295223 NP_056318 NP_001074928 NP_001276467 NP_001276468 NP_001276469 NP_001276470 NP_001276471 NP_035493 Location (UCSC) Chr 16: 28.85 – 28.87 Mb Chr 7: 126.07 – 126.07 Mb PubMed search [3] [4]
Wikidata
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Interactions

SH2B1 has been shown to interact with:

• Grb2,^[8][9]
• Insulin receptor,^[6][9]
• Janus kinase 2,^[10][11] and
• TrkA.^[8][12]

Clinical significance

Variations close to or in the SH2B1 gene have been found to associate with obesity in two very large genome wide association studies of body mass index (BMI).^[13][14] Furthermore, SH2B1 deletions are associated with severe early-onset obesity.^[15]

See also

• Genetics of obesity