1. Gene
  2. ITGAD - integrin subunit alpha D Gene

ITGAD - integrin subunit alpha D Gene

中文名称:整合素亚基α D

种属: Homo sapiens

同用名: ADB2; CD11D

基因 ID: 3681 | 基因类型: protein coding

关于 ITGAD

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:31,393,335-31,426,505 (from NCBI)

This gene has 3 transcripts (splice variants), 113 orthologues and 17 paralogues. Biased expression in spleen (RPKM 11.2), lymph node (RPKM 2.1) and 2 other tissues.

功能概要

该基因属于膜糖蛋白的 beta-2 整合素家族,由非共价连接的 alpha 和 beta 亚基组成异二聚体。它编码细胞表面异二聚体的 α 亚基,并参与白细胞的激活和粘附功能。该基因位于整合素亚基 alpha X 基因下游约 11kb 处,后者是整合素家族的另一个成员。它在组织和循环骨髓白细胞中表达。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 12 月]

This gene belongs to the beta-2 Integrin family of membrane glycoproteins, which are are composed of non-covalently linked alpha and beta subunits to form a heterodimer. It encodes the alpha subunit of the cell surface heterodimers and is involved in the activation and adhesion functions of leukocytes. The gene is located about 11kb downstream of the Integrin subunit alpha X gene, another member of the Integrin family. It is expressed in the tissue and circulating myeloid leukocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

ITGAD 基因产物(2)

mRNA Protein Name
NM_001318185.2 NP_001305114.1 integrin alpha-D isoform 1 precursor
NM_005353.3 NP_005344.2 integrin alpha-D isoform 2 precursor
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in heterotypic cell-cell adhesion IMP
IMP: 通过突变表型推断
20563599 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

ITGAD 蛋白结构

VWA

VWA: von Willebrand factor type A domain (150 - 328)

Integrin_alpha2

Integrin_alpha2: Integrin alpha (614 - 1001)

Integrin_alpha

Integrin_alpha: Integrin alpha cytoplasmic region (1124 - 1137)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1161 a.a.
蛋白主名 其他名称

integrin alpha-D

CD11 antigen-like family member D

关联疾病

疾病名称 别名
Leukocyte Adhesion Deficiency, Type I

Leukocyte Adhesion Deficiency

Leukocyte Adhesion Deficiency 1

LAD1

Lad

Lymphocyte Function-Associated Antigen 1 Immunodeficiency

Leukocyte Adhesion Deficiency Type I

Leukocyte Adhesion Deficiency Type 1

Linear Iga Bullous Dermatosis

Linear Iga Dermatosis

Leukocyte-Adhesion Deficiency Syndrome

Lfa1 Immunodeficiency

Congenital Leukocyte Adherence Deficiency

Lad-I

Linear Iga Disease

Leukocyte Adhesion Deficiency Syndrome

Lad 1

Lfa 1 Immunodeficiency

Linear Immunoglobulin A Dermatosis

Leucocyte Adhesion Deficiency Type 1

Leukocyte Adhesion Molecule Deficiency Type 1

Chronic Monocytic Leukemia

Leukemia, Myeloid

Leukemia, Monocytic, Chronic

Leukocyte Adhesion Deficiency, Type Iii

Leukocyte Adhesion Deficiency 3

LAD3

Leukocyte Adhesion Deficiency 1 Variant

Lad1v

Integrin Activation Deficiency Disease

Iadd

Leukocyte Adhesion Deficiency Type Iii

Lad1 Variant

Lad-1 Variant

Lad-Iii

Leukocyte Adhesion Deficiency-1 Variant

Leukocyte Adhesion Deficiency Type 1

Histiocytic And Dendritic Cell Cancer

Histiocytic And Dendritic Cell

Histiocytic Sarcoma

Malignant Histiocytosis

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Spinal Muscular Atrophy, Type Iv

SMA4

Spinal Muscular Atrophy, Adult Form

Spinal Muscular Atrophy 4

Spinal Muscular Atrophy-4

Adult Spinal Muscular Atrophy

Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive

Proximal Spinal Muscular Atrophy Type 4

Sma Type 4

Sma Type Iv

Sma-Iv

Sma Iv

Spinal Muscular Atrophy Adult Form

Spinal Muscular Atrophy Proximal Adult Autosomal Recessive

Spinal Muscular Atrophy Type Iv

Atrophy, Muscular, Spinal, Type Iv

Myelopathic Muscular Atrophy

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
Bos taurus ITGAD VGNC VGNC:55055
Mus musculus ITGAD MGD MGI:3578624
Rattus norvegicus ITGAD RGD RGD:71075
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