SRP54 signal recognition particle 54

Gene ID: 6729, updated on 3-Nov-2024
Gene type: protein coding
Also known as: SCN8

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

See all available tests in GTR for this gene

Description	Tests
Neutropenia, severe congenital, 8, autosomal dominant MedGen: C5203411OMIM: 618752GeneReviews: Not available	See labs
Shwachman syndrome MedGen: C0272170GeneReviews: Shwachman-Diamond Syndrome	See labs
Shwachman-Diamond syndrome 1 MedGen: C4692625OMIM: 260400GeneReviews: Shwachman-Diamond Syndrome, Pancreatitis Overview	See labs

Genomic context

Location:: 14q13.2

Sequence:: Chromosome: 14; NC_000014.9 (34982992..35029567)

Total number of exons:: 17

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
Variation Viewer
Related Variants

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