Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	25970
Gene name	SH2B adaptor protein 1
Gene symbol	SH2B1
Synonyms (NCBI Gene)	PSMSH2B
Chromosome	16
Chromosome location	16p11.2
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 trans

Show/Hide all (66)

miRTarBase ID	miRNA	Experiments	Reference
MIRT042612	hsa-miR-423-3p	CLASH	23622248
MIRT041887	hsa-miR-484	CLASH	23622248
MIRT037114	hsa-miR-877-3p	CLASH	23622248
MIRT037114	hsa-miR-877-3p	CLASH	23622248
MIRT499434	hsa-miR-6887-3p	PAR-CLIP	24398324
MIRT499433	hsa-miR-4315	PAR-CLIP	24398324
MIRT499432	hsa-miR-1236-3p	PAR-CLIP	24398324
MIRT499430	hsa-miR-6846-3p	PAR-CLIP	24398324
MIRT499431	hsa-miR-3160-5p	PAR-CLIP	24398324
MIRT499429	hsa-miR-4497	PAR-CLIP	24398324
MIRT731577	hsa-miR-361-3p	Luciferase reporter assay	27164951
MIRT731577	hsa-miR-361-3p	Luciferase reporter assay	27164951
MIRT499434	hsa-miR-6887-3p	PAR-CLIP	24398324
MIRT499433	hsa-miR-4315	PAR-CLIP	24398324
MIRT499432	hsa-miR-1236-3p	PAR-CLIP	24398324
MIRT499430	hsa-miR-6846-3p	PAR-CLIP	24398324
MIRT499431	hsa-miR-3160-5p	PAR-CLIP	24398324
MIRT499429	hsa-miR-4497	PAR-CLIP	24398324
MIRT1344108	hsa-miR-1225-3p	CLIP-seq
MIRT1344109	hsa-miR-129-3p	CLIP-seq
MIRT1344110	hsa-miR-2110	CLIP-seq
MIRT1344111	hsa-miR-2277-3p	CLIP-seq
MIRT1344112	hsa-miR-28-5p	CLIP-seq
MIRT1344113	hsa-miR-3139	CLIP-seq
MIRT1344114	hsa-miR-3620	CLIP-seq
MIRT1344115	hsa-miR-3660	CLIP-seq
MIRT1344116	hsa-miR-3670	CLIP-seq
MIRT1344117	hsa-miR-3679-3p	CLIP-seq
MIRT1344118	hsa-miR-3944-3p	CLIP-seq
MIRT1344119	hsa-miR-4271	CLIP-seq
MIRT1344120	hsa-miR-4492	CLIP-seq
MIRT1344121	hsa-miR-4498	CLIP-seq
MIRT1344122	hsa-miR-4505	CLIP-seq
MIRT1344123	hsa-miR-4506	CLIP-seq
MIRT1344124	hsa-miR-4526	CLIP-seq
MIRT1344125	hsa-miR-4725-3p	CLIP-seq
MIRT1344126	hsa-miR-4731-5p	CLIP-seq
MIRT1344127	hsa-miR-4749-3p	CLIP-seq
MIRT1344128	hsa-miR-490-5p	CLIP-seq
MIRT1344129	hsa-miR-569	CLIP-seq
MIRT1344130	hsa-miR-637	CLIP-seq
MIRT1344131	hsa-miR-708	CLIP-seq
MIRT1344132	hsa-miR-762	CLIP-seq
MIRT1344108	hsa-miR-1225-3p	CLIP-seq
MIRT1344109	hsa-miR-129-3p	CLIP-seq
MIRT2621820	hsa-miR-1915	CLIP-seq
MIRT1344110	hsa-miR-2110	CLIP-seq
MIRT1344111	hsa-miR-2277-3p	CLIP-seq
MIRT2621821	hsa-miR-3151	CLIP-seq
MIRT1344114	hsa-miR-3620	CLIP-seq
MIRT1344117	hsa-miR-3679-3p	CLIP-seq
MIRT1344118	hsa-miR-3944-3p	CLIP-seq
MIRT1344119	hsa-miR-4271	CLIP-seq
MIRT2621822	hsa-miR-4283	CLIP-seq
MIRT2621823	hsa-miR-4489	CLIP-seq
MIRT1344120	hsa-miR-4492	CLIP-seq
MIRT1344121	hsa-miR-4498	CLIP-seq
MIRT1344122	hsa-miR-4505	CLIP-seq
MIRT1344123	hsa-miR-4506	CLIP-seq
MIRT2621824	hsa-miR-4656	CLIP-seq
MIRT1344125	hsa-miR-4725-3p	CLIP-seq
MIRT1344126	hsa-miR-4731-5p	CLIP-seq
MIRT1344127	hsa-miR-4749-3p	CLIP-seq
MIRT1344129	hsa-miR-569	CLIP-seq
MIRT1344130	hsa-miR-637	CLIP-seq
MIRT1344132	hsa-miR-762	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005068	Function	Transmembrane receptor protein tyrosine kinase adaptor activity	IBA
GO:0005515	Function	Protein binding	IPI	9742218, 16273093, 24396070, 24658140, 31585087, 31980649, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0007165	Process	Signal transduction	IEA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0016020	Component	Membrane	IEA
GO:0030032	Process	Lamellipodium assembly	IEA
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0035591	Function	Signaling adaptor activity	IEA
GO:0045840	Process	Positive regulation of mitotic nuclear division	IEA
GO:0048870	Process	Cell motility	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IGI	28334068
GO:2000278	Process	Regulation of DNA biosynthetic process	IEA

MIM	HGNC	e!Ensembl
608937	30417	ENSG00000178188

Q9NRF2

Protein name

SH2B adapter protein 1 (Pro-rich, PH and SH2 domain-containing signaling mediator) (PSM) (SH2 domain-containing protein 1B)

Protein function

Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways mediated by Janus kinase (JAK) and receptor tyrosine kinases, including the receptors of insulin (INS), insulin-like growth facto

PDB

5W3R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08916	Phe_ZIP	25 → 81	Phenylalanine zipper	Domain
PF00169	PH	270 → 376	PH domain	Domain
PF00017	SH2	527 → 604	SH2 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed with highest levels in skeletal muscle and ovary. {ECO:0000269|PubMed:15767667}.

Sequence

MNGAPSPEDGASPSSPPLPPPPPPSWREFCESHARAAALDFARRFRLYLASHPQYAGPGA
EAAFSRRFAELFLQHFEAEVARASGSLSPPILAPLSPGAEISPHDLSLESCRVGGPLAVL
GPSRSSEDLAGPLPSSVSSSSTTSSKPKLKKRFSLRSVGRSVRGSVRGILQWRGTVDPPS
SAGPLETSSGPPVLGGNSNSNSSGGAGTVGRGLVSDGTSPGERWTHRFERLRLSRGGGAL
KDGAGMVQREELLSFMGAEEAAPDPAGVGRGGGVAGPPSGGGGQPQWQKCRLLLRSEGEG
GGGSRLEFFVPPKASRPRLSIPCSSITDVRTTTALEMPDRENTFVVKVEGPSEYIMETVD
AQHVKAWVSDIQECLSPGPCPATSPRPMTLPLAPGTSFLTRENTDSLELSCLNHSESLPS
QDLLLGPSESNDRLSQGAYGGLSDRPSASISPSSASIAASHFDSMELLPPELPPRIPIEE
GPPTGTVHPLSAPYPPLDTPETATGSFLFQGEPEGGEGDQPLSGYPWFHGMLSRLKAAQL
VLTGGTGSHGVFLVRQSETRRGEYVLTFNFQGKAKHLRLSLNEEGQCRVQHLWFQSIFDM
LEHFRVHPIPLESGGSSDVVLVSYVPSSQRQQEPTTSHDPPQPPEPPSWTDPPQPGAEEA
SRAPEVAAAAAAAAKERQEKEKAGGGGVPEELVPVVELVPVVELEEAIAPGSEAQGAGSG
GDAGVPPMVQLQQSPLGGDGEEGGHPRAINNQYSFV

Sequence length

756

Interactions

View interactions

	KEGG		Reactome
	Neurotrophin signaling pathway		Prolactin receptor signaling Growth hormone receptor signaling Factors involved in megakaryocyte development and platelet production

129

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Distal 16p11.2 microdeletion syndrome	Conflicting classifications of pathogenicity	rs142515048	RCV002249777
Lung cancer	Conflicting classifications of pathogenicity	rs367969323	RCV005912231
Premature ovarian failure	Conflicting classifications of pathogenicity	rs142515048	RCV001270235
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	Conflicting classifications of pathogenicity	rs2152178267	RCV002077362
SH2B1-associated disorder	Uncertain significance	rs2544870778	RCV003448525
SH2B1-associated obesity	Uncertain significance	rs2544870778	RCV005416137
SH2B1-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs147094247, rs372038271, rs141195883, rs561413284, rs760421828, rs117918991, rs541419865, rs527954657, rs756892017, rs774819489, rs762374544, rs115698674, rs756529856, rs202032080, rs749598219 View all (104 more)	RCV003426210 RCV003426262 RCV003401999 RCV003923361 RCV003951025 RCV003978767 RCV003895818 RCV003913506 RCV004744575 RCV004744607 RCV003961138 RCV003984286 RCV003973602 RCV004741530 RCV004741533 RCV003936692 RCV003946459 RCV004741567 RCV003954095 RCV004741598 RCV003420763 RCV003427859 RCV003408662 RCV003408663 RCV003408695 RCV003408718 RCV003417156 RCV003419258 RCV003420844 RCV003393060 RCV003405973 RCV003414548 RCV003400435 RCV003427951 RCV003397334 RCV003397509 RCV003393024 RCV003414160 RCV003414202 RCV003416957 RCV003392808 RCV003402676 RCV003393171 RCV004741616 RCV004741630 RCV003946685 RCV003939089 RCV004741653 RCV003939171 RCV003966664 RCV003893432 RCV003929365 RCV003956624 RCV003898911 RCV003894290 RCV003894561 RCV003906997 RCV003907175 RCV003907229 RCV003909492 RCV003921679 RCV003981721 RCV003893790 RCV003892242 RCV003894485 RCV003901835 RCV003897403 RCV003912283 RCV003899388 RCV003899550 RCV003909653 RCV003897365 RCV003913923 RCV003933925 RCV003944090 RCV003952106 RCV003914656 RCV003939731 RCV003951749 RCV003943819 RCV003944523 RCV003939335 RCV003934401 RCV003944395 RCV003944422 RCV003957128 RCV003914730 RCV003934150 RCV003956862 RCV003976842 RCV003959457 RCV003969830 RCV003967039 RCV003969450 RCV003966931 RCV003976409 RCV004741768 RCV004723613 RCV003978308 RCV003936193 RCV003978352 RCV003975731 RCV003922961 RCV003411885 RCV003940808 RCV003968319 RCV004742693 RCV004742688 RCV004743182 RCV003933038 RCV003932989 RCV004743192 RCV004743193 RCV003903007 RCV003933221 RCV003933222 RCV003942920 RCV004743213 RCV004743214 RCV003978215 RCV003918600 RCV004743319

Show/Hide Text Mining Associations (36)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Asthma	Associate	24560518
Bipolar Disorder	Associate	31754094
Carcinoma Non Small Cell Lung	Associate	22901222
Colorectal Neoplasms	Associate	31984680
Congenital Hyperinsulinism	Associate	24971614
Coronary Artery Disease	Associate	21907990
Developmental Disabilities	Associate	20540750, 20808231, 22234155, 24971614
Diabetes Mellitus	Associate	21907990, 28694205
Diabetes Mellitus Type 2	Associate	21907990, 21912638, 31754094, 37586323
Dyslipidemias	Associate	28694205
Embolism Fat	Associate	21796141
Endometrial Neoplasms	Associate	33356989
Fatty Liver	Associate	32365683
Fatty Liver Alcoholic	Associate	32365683
Hyperphagia	Associate	23160192
Hypertension	Associate	39897959
Inflammatory Bowel Diseases	Associate	33601420
Insulin Resistance	Associate	23160192, 24971614
Kidney Neoplasms	Inhibit	33299884
Liver Failure	Associate	32365683
Lymphatic Metastasis	Stimulate	22901222
Mental Disorders	Associate	23160192
Metabolic Diseases	Associate	37586323
Metabolic Syndrome	Associate	39897959
Myocardial Infarction	Associate	21907990
Myotonic Dystrophy	Associate	34635168
Neoplasms	Associate	22901222, 27422711, 33356989
Neoplasms	Stimulate	33299884
Neoplasms Adipose Tissue	Associate	21912638
Non alcoholic Fatty Liver Disease	Associate	32365683
Obesity	Associate	17228025, 19079261, 19164386, 19692490, 19910938, 20540750, 20616199, 20725061, 20808231, 21907990, 21912638, 22234155, 22248999, 22513296, 23160192 View all (14 more)
Overweight	Associate	21912638, 23270367
Personality Disorders	Associate	23160192
Pulmonary Arterial Hypertension	Associate	28977211
Sarcoma	Associate	24971614
Scoliosis	Associate	30803986

SH2B1 (SH2B adaptor protein 1)