SRP54 signal recognition particle 54
Gene ID: 6729, updated on 27-Nov-2024Gene type: protein coding
Also known as: SCN8
- See all available tests in GTR for this gene
- Go to complete Gene record for SRP54
- Go to Variation Viewer for SRP54 variants
Summary
Enables several functions, including 7S RNA binding activity; endoplasmic reticulum signal peptide binding activity; and guanyl ribonucleotide binding activity. Contributes to GTPase activity. Involved in granulocyte differentiation and protein targeting to ER. Located in cytosol and nucleus. Part of signal recognition particle, endoplasmic reticulum targeting. Implicated in severe congenital neutropenia 8. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
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| Description | Tests |
|---|---|
| Neutropenia, severe congenital, 8, autosomal dominant | not available |
| Shwachman syndrome MedGen: C0272170GeneReviews: Shwachman-Diamond Syndrome | not available |
| Shwachman-Diamond syndrome 1 | not available |
Genomic context
- Location:
- 14q13.2
- Sequence:
- Chromosome: 14; NC_000014.9 (34982992..35029567)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SRP54 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- 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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