NUP85 Chromosome 17
Nucleoporin 85
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What This Gene Does
This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded protein can also bind to the C-terminus of chemokine (C-C motif) receptor 2 (CCR2) and promote chemotaxis of monocytes, thereby participating in the inflammatory response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Gene Info
Gene Group
Nucleoporins
Locus Type
gene with protein product
Location
17q25.1
Ensembl
ENSG00000125450
Associated Conditions (2)
Nephrotic syndrome
type 17
Key Variants
RS145404739
Conflicting classifications of pathogenicity
Health Risk
RS539810910
Conflicting classifications of pathogenicity
Health Risk
RS753666447
Conflicting classifications of pathogenicity
Health Risk
RS769749610
Conflicting classifications of pathogenicity
Health Risk
RS1159700153
Likely pathogenic
Nephrotic syndrome, type 17, Nephrotic syndrome
Health Risk
RS1321552081
Likely pathogenic
Nephrotic syndrome, type 17, Nephrotic syndrome
Health Risk
RS368572297
Likely pathogenic
Nephrotic syndrome, type 17, Nephrotic syndrome
Health Risk
RS1568070817
Pathogenic
Nephrotic syndrome, type 17, Nephrotic syndrome
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145404739 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS539810910 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753666447 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769749610 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1159700153 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 17, Nephrotic syndrome |
| RS1321552081 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 17, Nephrotic syndrome |
| RS368572297 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 17, Nephrotic syndrome |
| RS1568070817 | Health Risk | Pathogenic | Nephrotic syndrome, type 17, Nephrotic syndrome |