SLC39A7 Chromosome 6
Solute carrier family 39 member 7
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What This Gene Does
The protein encoded by this gene transports zinc from the Golgi and endoplasmic reticulum to the cytoplasm. This transport may be important for activation of tyrosine kinases, some of which could be involved in cancer progression. Therefore, modulation of the encoded protein could be useful as a therapeutic agent against cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Gene Info
Gene Group
Solute carrier family 39
Locus Type
gene with protein product
Location
6p21.32
Ensembl
ENSG00000112473
Associated Conditions (2)
Agammaglobulinemia 9
autosomal recessive
Key Variants
RS200791329
Conflicting classifications of pathogenicity
Health Risk
RS759427122
Conflicting classifications of pathogenicity
Health Risk
RS777953013
Conflicting classifications of pathogenicity
Health Risk
RS943235103
Conflicting classifications of pathogenicity
Health Risk
RS1026743380
Likely pathogenic
Agammaglobulinemia 9, autosomal recessive, Agammaglobulinemia 9
Health Risk
RS201790479
Likely pathogenic
Agammaglobulinemia 9, autosomal recessive, Agammaglobulinemia 9
Health Risk
RS956657049
Likely pathogenic
Health Risk
RS1170038377
Pathogenic
Agammaglobulinemia 9, autosomal recessive, Agammaglobulinemia 9
Health Risk
RS563866464
Pathogenic
Agammaglobulinemia 9, autosomal recessive, Agammaglobulinemia 9
Health Risk
RS771311186
Pathogenic
Agammaglobulinemia 9, autosomal recessive, Agammaglobulinemia 9
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200791329 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759427122 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777953013 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS943235103 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1026743380 | Health Risk | Likely pathogenic | Agammaglobulinemia 9, autosomal recessive, Agammaglobulinemia 9 |
| RS201790479 | Health Risk | Likely pathogenic | Agammaglobulinemia 9, autosomal recessive, Agammaglobulinemia 9 |
| RS956657049 | Health Risk | Likely pathogenic | — |
| RS1170038377 | Health Risk | Pathogenic | Agammaglobulinemia 9, autosomal recessive, Agammaglobulinemia 9 |
| RS563866464 | Health Risk | Pathogenic | Agammaglobulinemia 9, autosomal recessive, Agammaglobulinemia 9 |
| RS771311186 | Health Risk | Pathogenic | Agammaglobulinemia 9, autosomal recessive, Agammaglobulinemia 9 |