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EXOC6B

Chr 2p13.2

exocyst complex component 6B

Aliases:
KIAA0919
MANE:
ENST00000272427.11
OMIM: 607880 ↗NCBI: 23233 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • spondyloepimetaphyseal dysplasia with joint laxity, type 3

    0.67

  • neurodegenerative disease

    0.54

  • muscular dystrophy

    0.30

  • prostatitis

    0.29

  • rectosigmoid junction neoplasm

    0.28

  • ovarian dysfunction

    0.26

  • preeclampsia

    0.26

  • hyperaldosteronism

    0.26

  • Urethral stricture

    0.21

  • schizophrenia

    0.12

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

Protein function (UniProt)

Exocyst complex component 6B

Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane

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.