1. Gene
  2. LMBRD2 - LMBR1 domain containing 2 Gene

LMBRD2 - LMBR1 domain containing 2 Gene

中文名称:含 LMBR1 结构域 2

种属: Homo sapiens

同用名: DENBA

基因 ID: 92255 | 基因类型: protein coding

关于 LMBRD2

Cytogenetic location: 5p13.2 Genomic coordinates (GRCh38): 5:36,098,407-36,151,887 (from NCBI)

This gene has 3 transcripts (splice variants), 262 orthologues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 10.2), thyroid (RPKM 6.1) and 25 other tissues.

功能概要

参与肾上腺素能受体信号通路。位于膜内。 [由基因组资源联盟提供,2022 年 4 月]

Involved in Adrenergic Receptor signaling pathway. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]

LMBRD2 基因产物(1)

mRNA Protein Name
NM_001007527.2 NP_001007528.1 G-protein coupled receptor-associated protein LMBRD2
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 adrenergic receptor signaling pathway IMP
IMP: 通过突变表型推断
28388415 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

LMBRD2 蛋白结构

LMBR1

LMBR1: LMBR1-like membrane protein (8 - 548)

  • 0
  • 200
  • 400
  • 600
  • 695 a.a.
蛋白主名 其他名称

G-protein coupled receptor-associated protein LMBRD2

LMBR1 domain-containing protein 2

关联疾病

疾病名称 别名
Developmental Delay With Variable Neurologic And Brain Abnormalities

DENBA

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

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
Canis familiaris LMBRD2 VGNC VGNC:42713
Bos taurus LMBRD2 VGNC VGNC:30925
Felis catus LMBRD2 VGNC VGNC:63250
Mus musculus LMBRD2 MGD MGI:2444173
Rattus norvegicus LMBRD2 RGD RGD:1563920
Macaca mulatta LMBRD2 VGNC VGNC:74355