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SLC30A7

Chr 1p21.2

solute carrier family 30 member 7

Aliases:
ZnTL2, ZNT7
MANE:
ENST00000357650.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • Ziegler-Huang syndrome

    0.50
  • Joubert syndrome 1

    0.33
  • Decreased testicular size

    0.27
  • severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

    0.27
  • Testicular atrophy

    0.27
  • multiple sclerosis

    0.26
  • Fuchs endothelial corneal dystrophy

    0.10
  • posterior polymorphous corneal dystrophy

    0.09
  • X-linked corneal dermoid

    0.09
  • congenital hereditary endothelial dystrophy of cornea

    0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Zinc transporter 7

Zinc ion transporter mediating zinc entry from the cytosol into the lumen of organelles along the secretory pathway (PubMed:15525635, PubMed:15994300). By contributing to zinc ion homeostasis within the early secretory pathway, regulates the activation and folding of enzymes like alkaline phosphatases (PubMed:15525635, PubMed:15994300)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.