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YIF1B

Chr 19q13.2

Yip1 interacting factor homolog B, membrane trafficking protein

Aliases:
FinGER8
MANE:
ENST00000339413.11

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Childhood onset dystonia, chorea or related movement disorder

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Kaya-Barakat-Masson syndrome

    0.74
  • hereditary disease

    0.41
  • cancer

    0.08
  • neoplasm

    0.06
  • hepatocellular carcinoma

    0.05
  • diabetic ketoacidosis

    0.02
  • Abnormality of the skeletal system

    0.02
  • myxosarcoma

    0.02
  • cutaneous melanoma

    0.01
  • lung carcinoma

    0.01

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

Protein function (UniProt)

Protein YIF1B

Functions in endoplasmic reticulum to Golgi vesicle-mediated transport and regulates the proper organization of the endoplasmic reticulum and the Golgi (By similarity). Plays a key role in targeting to neuronal dendrites receptors such as HTR1A (By similarity). Plays also a role in primary cilium and sperm flagellum assembly probably through protein transport to these compartments (PubMed:33103737)

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.