RBPJL Chromosome 20
Recombination signal binding protein for immunoglobulin kappa J region like
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What This Gene Does
This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signaling pathway transcription factor recombining binding protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
PTF1 complex
Locus Type
gene with protein product
Location
20q13.12
Ensembl
ENSG00000124232
Associated Conditions (1)
Type 2 diabetes mellitus
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200998587 | Health Risk | risk factor | Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS76474829 | Health Risk | risk factor | Type 2 diabetes mellitus, Type 2 diabetes mellitus |