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  2. SH2B3 - SH2B adaptor protein 3 Gene

SH2B3 - SH2B adaptor protein 3 Gene

中文名称:SH2B 衔接蛋白 3

种属: Homo sapiens

同用名: LNK; IDDM20

基因 ID: 10019 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 SH2B 衔接子蛋白家族的成员,参与生长因子和细胞因子受体的一系列信号活动。编码的蛋白质是细胞因子信号传导的关键负调节因子,在造血过程中起着关键作用。该基因的突变与 13 型乳糜泻的易感性和胰岛素依赖型糖尿病的易感性有关。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2014 年 4 月]

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 基因产物(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 蛋白结构

Phe_ZIP

Phe_ZIP: Phenylalanine zipper (24 - 80)

PH

PH: PH domain (212 - 306)

SH2

SH2: SH2 domain (364 - 441)

  • 0
  • 100
  • 200
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  • 400
  • 500
  • 575 a.a.
蛋白主名 其他名称

SH2B adapter protein 3

lymphocyte-specific adapter protein Lnk

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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