BNIP1 BCL2 interacting protein 1
Gene ID: 662, updated on 28-Oct-2024Gene type: protein coding
Also known as: NIP1; SEC20; TRG-8
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- Go to complete Gene record for BNIP1
- Go to Variation Viewer for BNIP1 variants
Summary
This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. In addition, this protein is involved in vesicle transport into the endoplasmic reticulum. Alternative splicing of this gene results in four protein products with identical N- and C-termini. [provided by RefSeq, Mar 2011]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. GeneReviews: Not available |
Genomic context
- Location:
- 5q35.1
- Sequence:
- Chromosome: 5; NC_000005.10 (173144531..173164387)
- Total number of exons:
- 9
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for BNIP1 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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