1. Gene
  2. ICAM4 - intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) Gene

ICAM4 - intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) Gene

中文名称:细胞间粘附分子 4 (Landsteiner-Wiener 血型)

种属: Homo sapiens

同用名: LW; CD242

基因 ID: 3386 | 基因类型: protein coding

关于 ICAM4

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:10,286,955-10,288,520 (from NCBI)

This gene has 3 transcripts (splice variants), 85 orthologues, 4 paralogues and is associated with 1 phenotype. Biased expression in lung (RPKM 3.3), bone marrow (RPKM 3.1) and 13 other tissues.

功能概要

该基因编码属于免疫球蛋白 (Ig) 超家族的 Landsteiner-Wiener (LW) 血型抗原,与细胞间粘附分子 (ICAM) 蛋白家族具有相似性。这种 ICAM 蛋白包含 2 个 Ig 样 C2 型结构域,并与白细胞粘附 LFA-1 蛋白结合。 LW (A) /LW (B) 血型抗原的分子基础是第 100 位的单个 aa 变异; Gln-100=LW (A) 和 Arg-100=LW (B) 。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

This gene encodes the Landsteiner-Wiener (LW) blood group antigen(s) that belongs to the immunoglobulin (Ig) superfamily, and that shares similarity with the intercellular adhesion molecule (ICAM) protein family. This ICAM protein contains 2 Ig-like C2-type domains and binds to the leukocyte adhesion LFA-1 protein. The molecular basis of the LW(A)/LW(B) blood group antigens is a single aa variation at position 100; Gln-100=LW(A) and Arg-100=LW(B). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

ICAM4 基因产物(2)

mRNA Protein Name
NM_001039132.3 NP_001034221.1 intercellular adhesion molecule 4 isoform 3 precursor
NM_001544.5 NP_001535.1 intercellular adhesion molecule 4 isoform 1 precursor
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
25416956 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

ICAM4 蛋白结构

ICAM_N

ICAM_N: Intercellular adhesion molecule (ICAM), N-terminal domain (48 - 135)

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

intercellular adhesion molecule 4

CD242 antigen

关联疾病

疾病名称 别名
Blood Group System, Landsteiner-Wiener

LW

Landsteiner-Wiener Blood Group System

Anemia, Congenital Dyserythropoietic, Type Iv

CDAN4

Congenital Dyserythropoietic Anemia Type Iv

Congenital Dyserythropoietic Anemia Type 4

Cda Iv

Cda Due To Klf1 Mutation

Cda Type 4

Cda Type Iv

Congenital Dyserythropoietic Anemia Due To Klf1 Mutation

Cda, Type Iv

Dyserythropoietic Anemia, Congenital, Type Iv

Congenital Dyserythropoietic Anaemia Due To Klf1 Mutation

Congenital Dyserythropoietic Anaemia Type 4

Congenital Dyserythropoietic Anaemia Type Iv

Anemia, Congenital Dyserythropoietic, 4

Anemia, Dyserythropoietic Congenital, Type Iv

Anemia, Dyserythropoietic, Congenital, Type Iv

Cd45 Deficiency
Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia

Spherocytic Anemia

Congenital Spherocytosis

Spherocytosis, Type 1

Minkowski Chauffard Syndrome

Hs

Minkowski-Chauffard Disease

Minkowski-Chauffard Syndrome

Spherocytosis Hereditary

Spherocytosis, Hereditary

Anemia, Hereditary Spherocytic Hemolytic

Sickle Cell Anemia

Hemoglobin Sc Disease

Anemia, Sickle Cell

Hbsc Disease

Sickle Cell-Hemoglobin C Disease Syndrome

Hb Ss Disease

Sickle Cell Trait

Drepanocytosis

Haemoglobin Sc Disease

Hb Sc Disease

Hb-S/Hb-C Disease

Hb-Ss Disease Without Crisis

Hemoglobin S Disease Without Crisis

Sickle Cell Anaemia

Sickle-Cell/Hb-C Disease Without Crisis

Sickle Cell - Hemoglobin C Disease

Hbs Disease

Hemoglobin S Disease

Sickling Disorder Due To Hemoglobin S

SKCA

Sickle Cell Disease

Sickle Cell-Hemoglobin C Disease

Sickle-Cell Disease Carrier

Sickle-Cell Heterozygous Disorder

Haemoglobin A-S Genotype

Hb-S - [Sickle Cell Haemoglobin] Carrier

Sickle Cell Haemoglobin Trait

As - [Sickle Cell Trait]

Hbas - [Sickle Cell Haemoglobin Trait]

Sickle-Cell Trait Haemoglobin Disease

Haemoglobin Sickle Cell Trait Disorder

Heterozygous Sickle Cell Trait

Hbas - [Heterozygous Haemoglobin S]

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
Felis catus ICAM4 VGNC VGNC:80599
Rattus norvegicus ICAM4 RGD RGD:1308971
Canis familiaris ICAM4 VGNC VGNC:81271
Mus musculus ICAM4 MGD MGI:1925619
Bos taurus ICAM4 VGNC VGNC:52244