ZFR Chromosome 5
Zinc finger RNA binding protein
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What This Gene Does
This gene encodes an RNA-binding protein characterized by its DZF (domain associated with zinc fingers) domain. The encoded protein may play a role in the nucleocytoplasmic shuttling of another RNA-binding protein, Staufen homolog 2, in neurons. Expression of this gene is regulated through alternative polyadenylation that mediates differential microRNA targeting. Elevated expression of this gene has been observed in human patients with pancreatic cancer and knockdown of this gene may result in reduced viability and invasion of pancreatic cancer cells. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
"Zinc fingers matrin-type|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
5p13.3
Ensembl
ENSG00000056097
Associated Conditions (1)
Pure or complex autosomal recessive spastic paraplegia
Key Variants
RS140428713
Conflicting classifications of pathogenicity
Pure or complex autosomal recessive spastic paraplegia, Pure or complex autosomal recessive spastic paraplegia
Health Risk
RS779031634
Conflicting classifications of pathogenicity
Pure or complex autosomal recessive spastic paraplegia, Pure or complex autosomal recessive spastic paraplegia
Health Risk
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140428713 | Health Risk | Conflicting classifications of pathogenicity | Pure or complex autosomal recessive spastic paraplegia, Pure or complex autosomal recessive spastic paraplegia |
| RS779031634 | Health Risk | Conflicting classifications of pathogenicity | Pure or complex autosomal recessive spastic paraplegia, Pure or complex autosomal recessive spastic paraplegia |