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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	25970
Gene name Gene Name - the full gene name approved by the HGNC.	SH2B adaptor protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SH2B1
Synonyms (NCBI Gene) Gene synonyms aliases	PSM, SH2B
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16p11.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Inflammatory Bowel Disease	Inflammatory bowel disease	N/A	N/A	GWAS
Obesity	Obesity	N/A	N/A	GWAS
Ulcerative colitis	Ulcerative colitis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (36)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)