Skip to content
GenoLensGenoLens

FAT2

Chr 5q33.1

FAT atypical cadherin 2

Aliases:
MEGF1, CDHF8, HFAT2, CDHR9
MANE:
ENST00000261800.6
OMIM: 604269 ↗NCBI: 2196 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Hereditary ataxia with onset in adulthood

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Pituitary hormone deficiency

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • Autosomal dominant cerebellar ataxia type 1

    0.56

  • vaginal cancer

    0.37

  • metabolic disease

    0.28

  • brain aneurysm

    0.26

  • Paralysis

    0.22

  • cerebellar ataxia

    0.12

  • gastric cancer

    0.05

  • non-small cell lung carcinoma

    0.05

  • esophageal adenocarcinoma

    0.04

  • breast carcinoma

    0.03

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

Protein function (UniProt)

Protocadherin Fat 2

Involved in the regulation of cell migration (PubMed:18534823). May be involved in mediating the organization of the parallel fibers of granule cells during cerebellar development (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.