SYNJ2BP synaptojanin 2 binding protein
Gene ID: 55333, updated on 17-Jun-2024Gene type: protein coding
Also known as: ARIP2; OMP25
- See all available tests in GTR for this gene
- Go to complete Gene record for SYNJ2BP
- Go to Variation Viewer for SYNJ2BP variants
Summary
Predicted to enable type II activin receptor binding activity. Involved in several processes, including negative regulation of endothelial cell migration; negative regulation of sprouting angiogenesis; and regulation of signal transduction. Located in mitochondrion. Is integral component of mitochondrial outer membrane. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. GeneReviews: Not available |
Genomic context
- Location:
- 14q24.2
- Sequence:
- Chromosome: 14; NC_000014.9 (70366499..70417090, complement)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SYNJ2BP 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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