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BNIP1

Chr 5q35.1

BCL2 interacting protein 1

Aliases:
Nip1, SEC20
MANE:
ENST00000351486.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • atrial fibrillation

    0.29
  • hypertrophic pyloric stenosis

    0.24
  • nephrolithiasis

    0.14
  • spondyloepiphyseal dysplasia congenita

    0.12
  • open-angle glaucoma

    0.10
  • glaucoma

    0.09
  • paroxysmal tachycardia

    0.06
  • Thrombophlebitis

    0.05
  • phlebitis

    0.05
  • Alzheimer disease

    0.04

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

Protein function (UniProt)

Vesicle transport protein SEC20

As part of a SNARE complex may be involved in endoplasmic reticulum membranes fusion and be required for the maintenance of endoplasmic reticulum organization (PubMed:15272311). Also plays a role in apoptosis (PubMed:15272311, PubMed:23896122, PubMed:7954800). It is for instance required for endoplasmic reticulum stress-induced apoptosis (PubMed:23896122). As a substrate of RNF185 interacting with SQSTM1, might also be involved in mitochondrial autophagy (Probable)

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.