2. Gene
  3. HSH2D - hematopoietic SH2 domain containing Gene

HSH2D - hematopoietic SH2 domain containing Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含造血 SH2 域

种属: Homo sapiens

同用名: ALX; HSH2

基因 ID: 84941 | 基因类型: protein coding

关于 HSH2D

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:16,134,028-16,158,575 (from NCBI)

This gene has 8 transcripts (splice variants), 186 orthologues and 4 paralogues. Biased expression in bone marrow (RPKM 13.9), spleen (RPKM 9.5) and 11 other tissues.

功能概要

细胞激活需要 2 个信号：T 细胞受体识别抗原 (参见 TCR；MIM 186880) 和主要由幼稚 T 细胞中的 CD28 (MIM 186760) 提供的共刺激信号。 HSH2 是这两种信号通路的目标 (Greene 等人，2003 [PubMed 12960172]) 。[OMIM 提供，2008 年 3 月]

T-cell activation requires 2 signals: recognition of antigen by the T-cell receptor (see TCR; MIM 186880) and a costimulatory signal provided primarily by CD28 (MIM 186760) in naive T cells. HSH2 is a target of both of these signaling pathways (Greene et al., 2003 [PubMed 12960172]).[supplied by OMIM, Mar 2008]

HSH2D 基因产物(6)

mRNA Protein Name
NM_001352265.2 NP_001339194.1 hematopoietic SH2 domain-containing protein isoform 3
NM_001352266.2 NP_001339195.1 hematopoietic SH2 domain-containing protein isoform 4
NM_001369808.1 NP_001356737.1 hematopoietic SH2 domain-containing protein isoform 5
NM_001369809.1 NP_001356738.1 hematopoietic SH2 domain-containing protein isoform 6
NM_001382417.1 NP_001369346.1 hematopoietic SH2 domain-containing protein isoform 1
NM_032855.4 NP_116244.1 hematopoietic SH2 domain-containing protein isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
24728074 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

HSH2D 蛋白结构

SH2

SH2: SH2 domain (34 - 109)

  • 0
  • 100
  • 200
  • 300
  • 352 a.a.
蛋白主名 其他名称

hematopoietic SH2 domain-containing protein

adaptor in lymphocytes of unknown function X

HSH2D 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
HSH2D Q96JZ2 KIT Homo sapiens P10721
FPS
24728074
种属内
HSH2D Q96JZ2 TSG101 Homo sapiens Q99816
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Frontonasal Dysplasia 1

Frontorhiny

Frontonasal Dysplasia

Fnd

Frontonasal Malformation

Fnm

Median Facial Cleft Syndrome

Midline Facial Cleft

FND1

Median Cleft Face Syndrome

Median Cleft Syndrome

Frontonasal Dysplasia Sequence

Median Facial Cleft

Tessier Number 0-14 And 30 Facial Cleft

Alx3-Related Frontonasal Dysplasia

Frontonasal Dysplasia Type 1

Isolated Median Cleft Face Syndrome

Doid:0081044

Doid:0081045

Dysplasia, Frontonasal, Type
Parietal Foramina

Enlarged Parietal Foramina

Hereditary Cranium Bifidum

Symmetric Parietal Foramina

Catlin Marks

Foramina Parietalia Permagna

Caitlin Marks

Cranium Bifidum

Cranium Bifidum Occultum

Fenestrae Parietals Symmetricae

Fpp

Giant Parietal Foramina

Pfm

Fenestrae Parietales Symmetricae

Foramina, Parietal
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS06414 HSH2D Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus HSH2D RGD RGD:2321939
Mus musculus HSH2D MGD MGI:2676364
Canis familiaris HSH2D VGNC VGNC:41818
Felis catus HSH2D VGNC VGNC:62853
Bos taurus HSH2D VGNC VGNC:29986
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