2. Gene
  3. CD48 - CD48 molecule Gene

CD48 - CD48 molecule Gene

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

中文名称：CD48 分子

种属: Homo sapiens

同用名: BCM1; BLAST; hCD48; mCD48; BLAST1; SLAMF2; MEM-102

基因 ID: 962 | 基因类型: protein coding

关于 CD48

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:160,678,746-160,711,822 (from NCBI)

This gene has 3 transcripts (splice variants), 262 orthologues and 9 paralogues. Biased expression in lymph node (RPKM 70.5), spleen (RPKM 47.2) and 9 other tissues.

功能概要

该基因编码免疫球蛋白样受体 CD2 亚家族的成员，其中包括 SLAM (信号淋巴细胞激活分子) 蛋白。编码的蛋白质存在于淋巴细胞和其他免疫细胞、树突状细胞和内皮细胞的表面，并参与这些细胞的激活和分化途径。然而，编码的蛋白质没有跨膜结构域，而是通过 C 末端结构域由 GPI 锚固定在细胞表面，该结构域可能被切割以产生受体的可溶形式。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2011 年 12 月]

This gene encodes a member of the CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins. The encoded protein is found on the surface of lymphocytes and other immune cells, dendritic cells and endothelial cells, and participates in activation and differentiation pathways in these cells. The encoded protein does not have a transmembrane domain, however, but is held at the cell surface by a GPI anchor via a C-terminal domain which maybe cleaved to yield a soluble form of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

CD48 基因产物(2)

mRNA Protein Name
NM_001256030.2 NP_001242959.1 CD48 antigen isoform 2 precursor
NM_001778.4 NP_001769.2 CD48 antigen isoform 1 precursor

CD48 蛋白结构

V-set

V-set: Immunoglobulin V-set domain (32 - 123)

Ig_2

Ig_2: Immunoglobulin domain (134 - 206)

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

CD48 antigen

B-lymphocyte activation marker BLAST-1

重组 CD48 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71091 SLAMF2/CD48 Protein, Human (HEK293, mFc) P09326 (Q27-S220) ≥95%
HY-P72022 SLAMF2/CD48 Protein, Human (HEK293, hFc) P09326 (Q27-S220) ≥95%
HY-P72919 SLAMF2/CD48 Protein, Human (HEK293, His) P09326 (Q27-S220) ≥95%

关联疾病

疾病名称 别名
Lymphoproliferative Syndrome, X-Linked, 1

Lymphomatoid Papulosis

Duncan Disease

Purtilo Syndrome

X-Linked Lymphoproliferative Syndrome

Xlp

X-Linked Lymphoproliferative Disease

XLP1

Lyp

Lymphoproliferative Disease, X-Linked

Xlpd

X-Linked Lymphoproliferative Disease Due To Sh2d1a Deficiency

Ebv Infection, Severe, Susceptibility To

Ebvs

Immunodeficiency 5

Imd5

X-Linked Lymphoproliferative Syndrome 1

Epstein-Barr Virus Infection, Familial Fatal

Ebv Infection, Severe

Infectious Mononucleosis, Severe

Infectious Mononucleosis, Severe, Susceptibility To

Immunodeficiency, X-Linked Progressive Combined Variable

Epstein Barr Virus Infection, Familial Fatal

X-Linked Progressive Combined Variable Immunodeficiency 5

Epstein-Barr Virus-Induced Lymphoproliferative Disease In Males

Familial Fatal Epstein-Barr Infection

Severe Susceptibility To Ebv Infection

Severe Susceptibility To Infectious Mononucleosis

Sap Deficiency

Sh2d1a/Slam-Associated Protein Deficiency

X-Linked Lymphoproliferative Syndrome Type 1

X-Linked Progressive Combined Variable Immunodeficiency

Lymphoproliferative Syndrome, X-Linked

Sap

X-Linked Lymphoproliferative Disorder
Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features
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-RS02251 CD48 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus CD48 VGNC VGNC:27036
Macaca mulatta CD48 VGNC VGNC:70769
Mus musculus CD48 MGD MGI:88339
Rattus norvegicus CD48 RGD RGD:620620
Felis catus CD48 VGNC VGNC:107848
Canis familiaris CD48 VGNC VGNC:38961
Others CD48 NCBI
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