STON1 wt Allele

Preferred Label : STON1 wt Allele;

NCIt synonyms : STNB1; Stonin 1 wt Allele; stoned-b1; DKFZp781K2462; SBLF;

NCIt definition : Human STON1 wild-type allele is located in the vicinity of 2p16.3 and is approximately 99 kb in length. This allele, which encodes stonin-1 protein, may be involved in the endocytic process.;

NCIt note : The co-translation of the STON1 gene and its downstream neighbor the GTF2A1L gene is a rare transcript, which encodes a fusion protein of unknown function. The fusion gene STON1-GTF2A1L (SALF) has both a HUGO ID (HGNC:30651) and an Entrez Gene ID 286749.;

GenBank Accession Number : AF026169;

Details

Origin ID

C71001;

UMLS CUI

C2348118;

OMIM relation
- Stonin 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2p16.3 [NCIt concept]
gene_plays_role_in_process
- Endocytotic Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients