Gene Gene information from NCBI Gene database.
Entrez ID 6730
Gene name Signal recognition particle 68
Gene symbol SRP68
Synonyms (NCBI Gene)
SCN10
Chromosome 17
Chromosome location 17q25.1
Summary This gene encodes a subunit of the signal recognition particle (SRP). The SRP is a ribonucleoprotein complex that transports secreted and membrane proteins to the endoplasmic reticulum for processing. The complex includes a 7S RNA and six protein subunits
miRNA miRNA information provided by mirtarbase database.
208
miRTarBase ID miRNA Experiments Reference
MIRT031372 hsa-miR-16-5p Proteomics 18668040
MIRT046920 hsa-miR-221-3p CLASH 23622248
MIRT044563 hsa-miR-320a CLASH 23622248
MIRT044023 hsa-miR-365a-3p CLASH 23622248
MIRT040611 hsa-miR-92b-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674
GO:0003723 Function RNA binding IEA
GO:0005047 Function Signal recognition particle binding IBA
GO:0005047 Function Signal recognition particle binding IEA
GO:0005047 Function Signal recognition particle binding IPI 17254600
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604858 11302 ENSG00000167881
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UHB9
Protein name Signal recognition particle subunit SRP68 (SRP68) (Signal recognition particle 68 kDa protein)
Protein function Component of the signal recognition particle (SRP) complex, a ribonucleoprotein complex that mediates the cotranslational targeting of secretory and membrane proteins to the endoplasmic reticulum (ER) (PubMed:34020957). The SRP complex interacts
PDB 4P3E , 4P3F , 5M72 , 5M73 , 5WRV , 7NFX , 7QWQ , 8QVW , 8QVX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16969 SRP68 75 598 RNA-binding signal recognition particle 68 Family
Sequence
Sequence length 627
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein export   SRP-dependent cotranslational protein targeting to membrane
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neutropenia, severe congenital, 10, autosomal recessive Pathogenic rs2509675736 RCV003333699
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CRANIOFACIAL ABNORMALITIES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DERMATOLOGIC DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUTROPENIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SEVERE CONGENITAL NEUTROPENIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arsenic Encephalopathy Arsenic Encephalopathy CTD_human_DG 16835338
★☆☆☆☆
Found in Text Mining only
Dermatologic disorders Dermatologic Disorders CTD_human_DG 16835338
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant Neoplasms Malignant Neoplasm BEFREE 28369529
★☆☆☆☆
Found in Text Mining only
Urinary Bladder Neoplasms Urinary bladder neoplasms Pubtator 25921176 Associate
★☆☆☆☆
Found in Text Mining only