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IL17RD

Chr 3p14.3

interleukin 17 receptor D

Aliases:
SEF, IL17RLM, FLJ35755, IL-17RD
MANE:
ENST00000296318.12

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Hypogonadotropic hypogonadism

    BIALLELIC, autosomal or pseudoautosomal
  • Hypogonadotropic hypogonadism (GMS)

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    Unknown

Disease associations (Open Targets)

  • Kallmann syndrome

    0.75
  • hypogonadotropic hypogonadism 18 with or without anosmia

    0.55
  • Abnormality of the skeletal system

    0.38
  • Delayed puberty

    0.36
  • neurodegenerative disease

    0.33
  • chronic obstructive pulmonary disease

    0.30
  • Cerebral arteriovenous malformation

    0.30
  • asthma

    0.30
  • placenta praevia

    0.14
  • hypogonadotropic hypogonadism

    0.12

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

Protein function (UniProt)

Interleukin-17 receptor D

Feedback inhibitor of fibroblast growth factor mediated Ras-MAPK signaling and ERK activation (PubMed:12807873, PubMed:12958313). Regulates the nuclear ERK signaling pathway by spatially blocking nuclear translocation of activated ERK without inhibiting cytoplasmic phosphorylation of ERK (PubMed:15239952). Mediates JNK activation and may be involved in apoptosis (By similarity). May inhibit FGF-induced FGFR1 tyrosine phosphorylation (By similarity). Might have a role in the early stages of fate specification of GnRH-secreting neurons (By similarity). Inhibits TGFB-induced epithelial-to-mesenchymal transition in lens epithelial cells (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.