CNBP

This gene encodes a nucleic-acid binding protein with seven zinc-finger domains. The protein has a preference for binding single stranded DNA and RNA. The protein functions in cap-independent translation of ornithine decarboxylase mRNA, and may also function in sterol-mediated transcriptional regulation. A CCTG expansion from <30 repeats to 75-11000 repeats in the first intron of this gene results in myotonic dystrophy type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]

CCHC-Type Zinc Finger Nucleic Acid Binding Protein

Single-stranded DNA-binding protein, with specificity to the sterol regulatory element (SRE). Involved in sterol-mediated repression.

Cholesterol homeostasis Source: GO_Central
G-quadruplex DNA formation Source: ARUK-UCL
Negative regulation of transcription by RNA polymerase II Source: NTNU_SB
Positive regulation of cell population proliferation Source: UniProtKB
Positive regulation of cytoplasmic translation Source: GO_Central
Positive regulation of transcription, DNA-templated Source: UniProtKB
Positive regulation of transcription by RNA polymerase II Source: UniProtKB
Regulation of transcription, DNA-templated Source: ProtInc

Endoplasmic reticulum; Cytoplasm

Dystrophia myotonica 2 (DM2):
The disease is caused by variants affecting the gene represented in this entry. The causative mutation is a CCTG expansion (mean approximately 5000 repeats) located in intron 1 of the CNBP gene. A multisystem disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Additional features can include hyperhidrosis, testicular atrophy, insulin resistance and diabetes and central nervous system anomalies in rare cases.

Arginine methylation by PRMT1 in the Arg/Gly-rich region impedes RNA binding.