1. Gene
  2. VPREB3 - V-set pre-B cell surrogate light chain 3 Gene

VPREB3 - V-set pre-B cell surrogate light chain 3 Gene

中文名称:V-set 前 B 细胞替代轻链 3

种属: Homo sapiens

同用名: 8HS20; N27C7-2

基因 ID: 29802 | 基因类型: protein coding

关于 VPREB3

Cytogenetic location: 22q11.23 Genomic coordinates (GRCh38): 22:23,752,743-23,754,425 (from NCBI)

This gene has 2 transcripts (splice variants), 111 orthologues and 93 paralogues. Biased expression in lymph node (RPKM 35.6), spleen (RPKM 23.3) and 5 other tissues.

功能概要

该基因编码的蛋白质是小鼠 VpreB3 (8HS20) 蛋白质的人类直系同源物,被认为参与 B 细胞成熟,并可能在前 B 细胞受体 (pre-BCR) 的组装中发挥作用。虽然这种蛋白质在 B 细胞发育中的作用尚未阐明,但对这种蛋白质的鸡直系同源物的研究发现,当过表达时,这种蛋白质定位于内质网。这种蛋白质的小鼠直系同源物已被证明在前 B 细胞受体生物合成过程的早期与膜 mu 重链相关联。已在某些淋巴瘤中观察到该基因的表达。[RefSeq 提供,2015 年 4 月]

The protein encoded by this gene is the human ortholog of the mouse VpreB3 (8HS20) protein, is thought to be involved in B-cell maturation, and may play a role in assembly of the pre-B cell receptor (pre-BCR). While the role of this protein in B-cell development has not yet been elucidated, studies with the chicken ortholog of this protein have found that when overexpressed, this protein localizes to the endoplasmic reticulum. The mouse ortholog of this protein has been shown to associate with membrane mu heavy chains early in the course of pre-B cell receptor biosynthesis. Expression of this gene has been observed in some lymphomas. [provided by RefSeq, Apr 2015]

VPREB3 基因产物(1)

mRNA Protein Name
NM_013378.3 NP_037510.1 pre-B lymphocyte protein 3 precursor

VPREB3 蛋白结构

V-set

V-set: Immunoglobulin V-set domain (28 - 119)

  • 0
  • 100
  • 123 a.a.
蛋白主名 其他名称

pre-B lymphocyte protein 3

pre-B lymphocyte 3

关联疾病

疾病名称 别名
Spondylometaphyseal Dysplasia, Sedaghatian Type

SMDS

Sedaghatian Chondrodysplasia

Spondylometaphyseal Dysplasia Sedaghatian Type

Congenital Lethal Metaphyseal Chondrodysplasia

Metaphyseal Chondrodysplasia, Congenital Lethal

Lethal Metaphyseal Dysplasia

Agammaglobulinemia 4, Autosomal Recessive

Agammaglobulinemia 4

AGM4

Agammaglobulinemia, Autosomal Recessive, Due To Blnk Defect

B Cell Linker Protein Deficiency

B-Cell Linker Protein Deficiency

Blnk Deficiency

Agammaglobulinemia Autosomal Recessive Due To Blnk Defect

Agammaglobulinemia, Type 4, Autosomal Recessive

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
Rattus norvegicus VPREB3 RGD RGD:1306807
Bos taurus VPREB3 VGNC VGNC:53929
Felis catus VPREB3 VGNC VGNC:66952
Canis familiaris VPREB3 VGNC VGNC:48272
Macaca mulatta VPREB3 VGNC VGNC:108070
Mus musculus VPREB3 MGD MGI:98938