1. Gene
  2. SH2D1B - SH2 domain containing 1B Gene

SH2D1B - SH2 domain containing 1B Gene

中文名称:含 SH2 结构域 1B

种属: Homo sapiens

同用名: EAT2

基因 ID: 117157 | 基因类型: protein coding

关于 SH2D1B

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:162,395,268-162,412,136 (from NCBI)

This gene has 2 transcripts (splice variants), 151 orthologues and 13 paralogues. Broad expression in spleen (RPKM 4.0), bone marrow (RPKM 1.8) and 14 other tissues.

功能概要

通过其游离 Src (MIM 190090) 同源 2 (SH2) 结构域结合磷酸酪氨酸,EAT2 通过抗原呈递细胞表面表达的受体调节信号转导 (Morra 等人,2001 [PubMed 11689425]) 。[OMIM,2008 年 3 月]

By binding phosphotyrosines through its free Src (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 [PubMed 11689425]).[supplied by OMIM, Mar 2008]

SH2D1B 基因产物(1)

mRNA Protein Name
NM_053282.5 NP_444512.2 SH2 domain-containing protein 1B

SH2D1B 蛋白结构

SH2

SH2: SH2 domain (5 - 85)

  • 0
  • 100
  • 132 a.a.
蛋白主名 其他名称

SH2 domain-containing protein 1B

EAT-2

关联疾病

疾病名称 别名
Sarcoma

Connective And Soft Tissue Neoplasm

Tumor Of Soft Tissue And Skeleton

Sarcomas

Sarcoma - Category

Ewing Sarcoma

Neuroepithelioma

Ewing'S Tumor

Primitive Neuroectodermal Tumor

Ewings Sarcoma

Ewing'S Sarcoma

Peripheral Neuroepithelioma

ES

Ewings Sarcoma-Primitive Neuroectodermal Tumor

Localized Peripheral Primitive Neuroectodermal Tumor

Peripheral Primitive Neuroectodermal Tumor

Ewing Tumor

Sarcoma, Ewing'S

Ewing Family Of Tumors

Extraosseous Ewing Tumor

Askin Tumor

Ewing'S Family Localized Tumor

Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing Sarcoma

Localized Ewing'S Sarcoma

Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing'S Tumor

Pnet Of Thoracopulmonary Region

Tumor Of The Ewing Family

Skeletal Ewing Sarcoma

Osseous Ewing Sarcoma

Ppnet

Peripheral Pnet

Extraskeletal Ewing Sarcoma

Eoe

Extraosseous Ewing Sarcoma

Extraskeletal Ewing Tumor

Esft

Ewing Sarcoma Family Of Tumors

Pne

Pnet

Pnet Of The Chest Wall

Sarcoma, Ewing

Neuroectodermal Tumors, Primitive, Peripheral

Neuroectodermal Tumor, Primitive

Disorder Of Eye

Askin'S Tumor

Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor

Neuroepithelioma, Peripheral

Vertigo, Benign Recurrent

Benign Paroxysmal Positional Vertigo

Bppv

Vestibulopathy, Familial

BRV

Vertigo, Benign Paroxysmal Positional

Benign Paroxysmal Positional Nystagmus

Benign Recurrent Vertigo

Familial Benign Recurrent Vertigo

Familial Vestibulopathy

Benign Paroxysmal Nystagmus

Bppv - [Benign Positional Paroxysmal Vertigo]

Selective Immunoglobulin Deficiency Disease
Dysgammaglobulinemia
Cardiomyopathy, Familial Restrictive, 1

RCM1

Restrictive Cardiomyopathy 1

Rcm

Familial Restrictive Cardiomyopathy 1

Cardiomyopathy, Familial Restrictive 1

Cardiomyopathy, Restrictive, Familial, Type 1

Rcm-1

Episodic Ataxia, Type 2

Episodic Ataxia Type 2

EA2

Apca

Capa

Cerebellopathy, Hereditary Paroxysmal

Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia

Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive

Episodic Ataxia With Nystagmus

Ataxia, Episodic, With Nystagmus

Episodic Ataxia, Nystagmus-Associated

Ataxia, Familial Paroxysmal

Acetazolamide-Responsive Episodic Ataxia Syndrome

Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia

Ataxia, Familial, Paroxysmal

Nystagmus-Associated Episodic Ataxia

Familial Paroxysmal Ataxia

Episodic Ataxia 2

Ea-2

Episodic Ataxia Nystagmus-Associated

Hereditary Paroxysmal Cerebellopathy

Ataxia, Episodic, Type 2

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
Macaca mulatta SH2D1B VGNC VGNC:77349
Rattus norvegicus SH2D1B RGD RGD:1563935
Canis familiaris SH2D1B VGNC VGNC:53129
Bos taurus SH2D1B VGNC VGNC:55680