2. Gene
  3. OSBPL8 - oxysterol binding protein like 8 Gene

OSBPL8 - oxysterol binding protein like 8 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ORP8; MST120; OSBP10; MSTP120

Gene ID: 114882 | Gene type: protein coding

About OSBPL8

Cytogenetic location: 12q21.2 Genomic coordinates (GRCh38): 12:76,351,797-76,559,771 (from NCBI)

This gene has 18 transcripts (splice variants), 214 orthologues and 11 paralogues. Ubiquitous expression in kidney (RPKM 16.1), lymph node (RPKM 15.4) and 25 other tissues.

Summary

This gene encodes a member of a family of proteins containing an N-terminal pleckstrin homology domain and a highly conserved C-terminal oxysterol-binding protein-like sterol-binding domain. It binds mutliple lipid-containing molecules, including phosphatidylserine, phosphatidylinositol 4-phosphate (PI4P) and oxysterol, and promotes their exchange between the endoplasmic reticulum and the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

OSBPL8 Products(5)

mRNA Protein Name
NM_001003712.2 NP_001003712.1 oxysterol-binding protein-related protein 8 isoform b
NM_001319652.2 NP_001306581.1 oxysterol-binding protein-related protein 8 isoform b
NM_001319653.2 NP_001306582.1 oxysterol-binding protein-related protein 8 isoform c
NM_001319655.2 NP_001306584.1 oxysterol-binding protein-related protein 8 isoform d
NM_020841.5 NP_065892.1 oxysterol-binding protein-related protein 8 isoform a

OSBPL8 Protein Structure

PH

PH: PH domain (150 - 264)

Oxysterol_BP

Oxysterol_BP: Oxysterol-binding protein (407 - 748)

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  • 889 a.a.
Protein Preferred Names Protein Names

oxysterol-binding protein-related protein 8

OSBP-related protein 8

Related Diseases

Diseases Alias
Lenz-Majewski Hyperostotic Dwarfism

Lenz-Majewski Syndrome

Lenz Majewski Hyperostotic Dwarfism

LMHD

Hyperostotic Dwarfism Lenz-Majewski Type

Lenz-Majewski Hyperostotic Dysplasia

Multiple Congenital Anomalies, Intellectual Disability And Progressive Skeletal Sclerosis

Lms
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS09845 OSBPL8 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris OSBPL8 VGNC VGNC:44158
Felis catus OSBPL8 VGNC VGNC:63983
Rattus norvegicus OSBPL8 RGD RGD:1561474
Macaca mulatta OSBPL8 VGNC VGNC:75630
Bos taurus OSBPL8 VGNC VGNC:32466
Mus musculus OSBPL8 MGD MGI:2443807