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CFAP47

Chr Xp21.1

cilia and flagella associated protein 47

Aliases:
FLJ36601, RP13-11B7.1, MGC34831
MANE:
ENST00000378653.8
OMIM: 301057 ↗NCBI: 286464 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Cystic kidney disease

    X-LINKED: hemizygous mutation in males, biallelic mutations in females

  • Intellectual disability

    Unknown

Disease associations (Open Targets)

  • spermatogenic failure, X-linked, 3

    0.64

  • polycystic kidney disease

    0.37

  • Male infertility due to large-headed multiflagellar polyploid spermatozoa

    0.37

  • hereditary disease

    0.17

  • Abnormality of neuronal migration

    0.11

  • Congenital ptosis

    0.10

  • retinitis pigmentosa

    0.09

  • spermatogenic failure

    0.09

  • Marcus-Gunn syndrome

    0.09

  • non-syndromic male infertility due to sperm motility disorder

    0.09

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

Protein function (UniProt)

Cilia- and flagella-associated protein 47

Plays a role in flagellar formation and sperm motility

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.