SH2B3 - SH2B adaptor protein 3 Gene

Homo sapiens

Also known as LNK; IDDM20

Gene ID: 10019 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12820	SH2B3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.