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DZIP1L

Chr 3q22.3

DAZ interacting zinc finger protein 1 like

Aliases:
FLJ32844, DZIP2
MANE:
ENST00000327532.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Cystic kidney disease

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • polycystic kidney disease 5

    0.64
  • kidney disorder

    0.60
  • autosomal recessive polycystic kidney disease

    0.47
  • preeclampsia

    0.29
  • hereditary disease

    0.19
  • nephronophthisis

    0.08
  • familial idiopathic steroid-resistant nephrotic syndrome

    0.07
  • Meckel syndrome

    0.07
  • renal cysts and diabetes syndrome

    0.07
  • Senior-Boichis syndrome

    0.07

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

Protein function (UniProt)

Cilium assembly protein DZIP1L

Involved in primary cilium formation (PubMed:19852954, PubMed:28530676). Probably acts as a transition zone protein required for localization of PKD1/PC1 and PKD2/PC2 to the ciliary membrane (PubMed:28530676)

Curated MONDO disease pages that list DZIP1L among their top associated genes.

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.