ERC1 wt Allele

Preferred Label : ERC1 wt Allele;

NCIt synonyms : CAST2; ELKS; RAB6IP2; MGC12974; RAB6-Interacting Protein 2 Gene; FLJ31750; ELKS/RAB6-Interacting/CAST Family Member 1 wt Allele; KIAA1081;

NCIt definition : Human ERC1 wild-type allele is located in the vicinity of 12p13.3 and is approximately 505 kb in length. This allele, which encodes ELKS/Rab6-interacting/CAST family member 1 protein, is involved in the modulation of signaling. Both mutation of the gene and a chromosomal translocation t(10;12)(q11;p13) of this gene and the RET gene are associated with thyroid papillary carcinoma.;

GenBank Accession Number : AB015617;

Details

Origin ID

C97501;

UMLS CUI

C3273449;

OMIM relation
- Elks/rab6-interacting/cast family, member 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12p13.3 [NCIt concept]
gene_is_element_in_pathway
- Canonical NF-kappaB Signaling Pathway [NCIt concept]
- IL1-Mediated Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Positive Regulation of Apoptosis [NCIt concept]
- Signal Transduction [NCIt concept]
- Signal Transduction Induction [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients