SH2B3 - SH2B adaptor protein 3 Gene

Also Known as LNK; IDDM20

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10019

About SH2B3

Cytogenetic location: 12q24.12 Genomic coordinates (GRCh38): 12:111,404,730-111,451,623 (from NCBI)

This gene has 3 transcripts (splice variants), 202 orthologues, 2 paralogues and is associated with 97 phenotypes. Ubiquitous expression in bone marrow (RPKM 12.8), spleen (RPKM 12.6) and 25 other tissues.

Summary

This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and Cytokine Receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]

SH2B3 Products (2)

mRNA	Protein	Name
NM_001291424.1	NP_001278353.1	SH2B adapter protein 3 isoform 2
NM_005475.3	NP_005466.1	SH2B adapter protein 3 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16273093	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in erythrocyte development	IMP IMP: Inferred from mutant phenotype	20404132	GOA
involved in negative regulation of receptor signaling pathway via JAK-STAT	IMP IMP: Inferred from mutant phenotype	20404132	GOA
involved in negative regulation of response to cytokine stimulus	IMP IMP: Inferred from mutant phenotype	20404132	GOA
acts upstream of or within negative effect thrombopoietin-mediated signaling pathway	IDA IDA: Inferred from direct assay	20404132	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SH2B3 Protein Structure

Phe_ZIP

SH2

0
100
200
300
400
500
575 a.a.

Protein Preferred Names	Protein Names
SH2B adapter protein 3	lymphocyte-specific adapter protein Lnk

SH2B3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SH2B3	Q9UQQ2	MET	Homo sapiens	P08581	FPS	24728074
Intra	SH2B3	Q9UQQ2	KIT	Homo sapiens	P10721	FPS	24728074
Intra	SH2B3	Q9UQQ2	EGFR	Homo sapiens	P00533	Protein Array	16273093
Intra	SH2B3	Q9UQQ2	ERBB3	Homo sapiens	P21860	Protein Array	16273093

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Erythrocytosis, Familial, 1	ECYT1 Pfcp Primary Familial And Congenital Polycythemia Familial Erythrocytosis 1 Familial Erythrocytosis Polycythemia, Primary Familial And Congenital Autosomal Dominant Benign Erythrocytosis Familial Erythrocytosis Type 1 Congenital Erythrocytosis Due To Erythropoietin Receptor Mutation Congenital Polycythemia Due To Erythropoietin Receptor Mutation Primary Congenital Erythrocytosis Primary Familial Polycythemia Erythrocytosis, Autosomal Dominant Benign Erythrocytosis, Somatic Autosomal Dominant Familial Erythrocytosis-1 Erythrocytosis Autosomal Dominant Benign Familial Primary Polycythemia Familial Erythrocytosis, 1 Erythrocytosis, Familial, Type 1
Thrombocythemia 1	THCYT1 Thrombocytosis 1 Thrombocythemia, Somatic Essential Thrombocythemia Thrombocythemia, Essential
Myelofibrosis	Primary Myelofibrosis Agnogenic Myeloid Metaplasia Idiopathic Myelofibrosis Myeloid Metaplasia Myelofibrosis With Myeloid Metaplasia Osteomyelofibrosis Megakaryocytic Myelosclerosis Myelosclerosis Chronic Idiopathic Myelofibrosis Myelofibrosis, Idiopathic Myelofibrosis With Myeloid Metaplasia, Somatic Myelofibrosis, Somatic Aleukemic Myelosis Bone Marrow Fibrosis MYELOF MMM Agnogenic Myeloid Metaplasia With Myelofibrosis Ammm Myelosclerosis With Myeloid Metaplasia Myelofibrosis Nos
Essential Thrombocythemia	Essential Thrombocytosis Familial Thrombocytosis Hemorrhagic Thrombocythemia Hereditary Thrombocythemia Primary Thrombocytosis Idiopathic Thrombocythemia Primary Thrombocythemia Thrombocythemia, Essential Essential Thrombocythaemia Et Familial Thrombocythemia Thrombocythemia Essential
Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome
Celiac Disease 13	CELIAC13 Celiac Disease, Susceptibility To, 13 Gluten-Sensitive Enteropathy 13 Gluten-Sensitive Enteropathy, Susceptibility To, 13
Plasma Cell Neoplasm	Plasma Cell Dyscrasia Paraproteinemias Plasma Cell Tumour Plasmacytic Tumor Multiple Myeloma Plasmacytoma Plasma Cell Tumours Plasma Cells Dyscrasia
Myeloma, Multiple	Multiple Myeloma Plasma Cell Myeloma Kahler Disease Myelomatosis Medullary Plasmacytoma Multiple Myeloma, Resistance To Myeloma Plasma Cell Dyscrasia Kahler'S Disease Multiple Myeloma, Susceptibility To Myeloma - Multiple Kahler-Bozzolo Disease Plasma Cell Myelomas MM Plasma Cell Neoplasm Primary Systemic Amyloidosis Primary Amyloidosis Immunoglobulin Deposition Disease Plasmacytic Myeloma Multiple Myelomata Multiple Myeloma Nos Multiple Myeloma Without Mention Of Remission Monostotic Plasma Cell Myeloma Mm - [Multiple Myeloma]
Type 1 Diabetes Mellitus 20	Diabetes Mellitus, Insulin-Dependent, 20 IDDM20 T1D20 Insulin-Dependent Diabetes Mellitus 20 Diabetes Mellitus, Insulin-Dependent, Type 20
Polycythemia	Erythrocythemia Polycythemia Vera Polycythaemia Due To High Altitude
B-Lymphoblastic Leukemia/Lymphoma With Iamp21	B-All With Iamp21 Intrachromosomal Amplification Of Chromosome 21
Diabetes Mellitus	Diabetes
Type 1 Diabetes Mellitus 5	Diabetes Mellitus, Insulin-Dependent, 5 Latent Autoimmune Diabetes In Adults IDDM5 Insulin-Dependent Diabetes Mellitus 5 T1D5 Lada Type 1.5 Diabetes Diabetes Mellitus, Insulin-Dependent, Type 5
Myelophthisic Anemia	Myelophthisis Anemia Leukoerythroblastic Anemia, Leukoerythroblastic Leukoerythroblastosis Anemia, Myelophthisic Leukoerythroblastic Anemia
Myeloid Leukemia Associated With Down Syndrome
Primary Polycythemia	Familial Erythrocytosis Familiar Polycythemia Benign Familial Polycythemia Congenital Erythrocytosis Familial Polycythemia Hereditary Erythrocytosis Primary Familial Polycythemia Erythrocytosis, Familial Polycythemia Vera Primary Familial Polycythaemia Primary Inherited Polycythaemia
Erythrocytosis, Familial, 6	ECYT6 Erythrocytosis 6 Familial Erythrocytosis 6 Erythrocytosis, Beta-Globin Type Polycythemia, Beta-Globin Type Beta-Globin Type Erythrocytosis Beta-Globin Type Polycythemia
Chronic Eosinophilic Leukemia	Pdgfra-Associated Chronic Eosinophilic Leukemia
Celiac Disease 1	Celiac Disease Coeliac Disease Celiac Sprue Celiac Disease, Susceptibility To Gluten-Sensitive Enteropathy Nontropical Sprue Sprue CELIAC1 Celiac Disease, Susceptibility To, 1 Celiac Sprue 1 Celiac Sprue, Susceptibility To, 1 Gluten-Sensitive Enteropathy 1 Gluten-Sensitive Enteropathy, Susceptibility To, 1 Idiopathic Steatorrhea Cœliac Disease Gluten Intolerance Gluten-Induced Enteropathy Gluten Enteropathy Celiac Disease, Susceptibility To, Type 1 Childhood Celiac Disease Coeliac Rickets Gee Disease Gee-Herter Disease Heubner-Herter Disease Idiopathic Steatorrhoea Thaysen'S Disease Herter Gee Syndrome
Myeloproliferative Neoplasm	Myeloproliferative Disorder Chronic Myeloproliferative Disease Myeloproliferative Neoplasms Chronic Myeloproliferative Disorder Cmpd Cmpd, U Chronic Myeloproliferative Disorders Mpd Mpn Myeloproliferative Disorders Myeloproliferative Disease Campomelic Dysplasia
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Chronic Myelomonocytic Leukemia	Leukemia, Myelomonocytic, Chronic Cmml Leukemia Myelomonocytic Chronic Cmml - [Chronic Myelomonocytic Leukaemia] Chronic Myelomonocytic Leukaemia Without Mention Of Remission Chronic Monocytic Leukaemia Chronic Monocytoid Leukaemia
Juvenile Myelomonocytic Leukemia	Leukemia, Juvenile Myelomonocytic JMML Leukemia, Juvenile Myelomonocytic, Somatic Juvenile Chronic Myelomonocytic Leukemia Juvenile Chronic Myelogenous Leukemia Leukemia, Myelomonocytic, Juvenile Juvenile Myelomonocytic Leukaemia Without Mention Of Remission
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12820	SH2B3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22804	Sh2b3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29318	Sh2b3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SH2B3	RGD	RGD:68411
Mus musculus	SH2B3	MGD	MGI:893598
Bos taurus	SH2B3	VGNC	VGNC:34556
Macaca mulatta	SH2B3	VGNC	VGNC:77340
Canis familiaris	SH2B3	VGNC	VGNC:46110
Felis catus	SH2B3	VGNC	VGNC:65090
Others	SH2B3	NCBI