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SLC39A13

Chr 11p11.2

solute carrier family 39 member 13

Aliases:
FLJ25785, LZT-Hs9, ZIP13, ZIP-13
MANE:
ENST00000362021.9

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Ehlers Danlos syndrome with a likely monogenic cause

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Thoracic aortic aneurysm or dissection

    BIALLELIC, autosomal or pseudoautosomal
  • Thoracic aortic aneurysm or dissection (GMS)

    BIALLELIC, autosomal or pseudoautosomal
  • Osteogenesis imperfecta

Disease associations (Open Targets)

  • Ehlers-Danlos syndrome, spondylocheirodysplastic type

    0.73
  • spondylodysplastic Ehlers-Danlos syndrome

    0.38
  • spondyloepimetaphyseal dysplasia-abnormal dentition syndrome

    0.37
  • Spondyloepimetaphyseal dysplasia - abnormal dentition

    0.37
  • prostate carcinoma

    0.29
  • hypertensive disorder

    0.22
  • stroke disorder

    0.22
  • Alzheimer disease

    0.22
  • Ehlers-Danlos syndrome

    0.20
  • hereditary disease

    0.19

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

Protein function (UniProt)

Zinc transporter ZIP13

Functions as a zinc transporter transporting Zn(2+) from the Golgi apparatus to the cytosol and thus influences the zinc level at least in areas of the cytosol (PubMed:21917916, PubMed:23213233). May regulate beige adipocyte differentiation (By similarity)

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.