RNF2 Chromosome 1
Ring finger protein 2
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What This Gene Does
Polycomb group (PcG) of proteins form the multiprotein complexes that are important for the transcription repression of various genes involved in development and cell proliferation. The protein encoded by this gene is one of the PcG proteins. It has been shown to interact with, and suppress the activity of, transcription factor CP2 (TFCP2/CP2). Studies of the mouse counterpart suggested the involvement of this gene in the specification of anterior-posterior axis, as well as in cell proliferation in early development. This protein was also found to interact with huntingtin interacting protein 2 (HIP2), an ubiquitin-conjugating enzyme, and possess ubiquitin ligase activity. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Ring finger proteins
Locus Type
gene with protein product
Location
1q25.3
Ensembl
ENSG00000121481
Associated Conditions (1)
Luo-Schoch-Yamamoto syndrome
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1651768254 | Health Risk | Pathogenic | Luo-Schoch-Yamamoto syndrome, Luo-Schoch-Yamamoto syndrome |