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SEC61B

Chr 9q22.33

SEC61 translocon subunit beta

MANE:
ENST00000223641.5

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Ductal plate malformation

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Polycystic liver disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • neurodegenerative disease

    0.53
  • asthma

    0.37
  • lower respiratory tract disorder

    0.30
  • hypothyroidism

    0.29
  • cholelithiasis

    0.24
  • Isolated polycystic liver disease

    0.19
  • respiratory system disorder

    0.19
  • polycystic liver disease 1

    0.18
  • mathematical ability

    0.15
  • injury

    0.14

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

Protein function (UniProt)

Protein transport protein Sec61 subunit beta

Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across the endoplasmic reticulum (ER) (PubMed:12475939). Forms a ribosome receptor and a gated pore in the ER membrane, both functions required for cotranslational translocation of nascent polypeptides (PubMed:12475939). The SEC61 channel is also involved in ER membrane insertion of transmembrane proteins: it mediates membrane insertion of the first few transmembrane segments of proteins, while insertion of subsequent transmembrane regions of multi-pass membrane proteins is mediated by the multi-pass translocon (MPT) complex (PubMed:32820719, PubMed:36261522). The SEC61 channel cooperates with the translocating protein TRAM1 to import nascent proteins into the ER (PubMed:19121997)

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.