LMBRD2 - LMBR1 domain containing 2 Gene

Also Known as DENBA

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 92255

About 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.

Summary

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

LMBRD2 Products (1)

mRNA Protein Name
NM_001007527.2 NP_001007528.1 G-protein coupled receptor-associated protein LMBRD2
Biological Process GO Annotation Evidence 参考文献 由来
involved in adrenergic receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
28388415 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LMBRD2 Protein Structure

LMBR1

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

  • 0
  • 200
  • 400
  • 600
  • 695 a.a.
Protein Preferred Names Protein Names

G-protein coupled receptor-associated protein LMBRD2

  • LMBR1 domain-containing protein 2

関連疾患

Diseases Alias
Developmental Delay With Variable Neurologic And Brain Abnormalities
  • DENBA

Non-Specific Syndromic Intellectual Disability
  • Complex Neurodevelopmental Disorder

Diseases Alias
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

Orthologs Information

生物種 Symbol 由来 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
Others LMBRD2 NCBI