TBC1D2B wt Allele

Preferred Label : TBC1D2B wt Allele;

NCIt synonyms : NEDSGO; TBC1 Domain Family, Member 2B Gene; TBC1 Domain Family Member 2B wt Allele; KIAA1055;

NCIt definition : Human TBC1D2B wild-type allele is located within 15q24.3-q25.1 and is approximately 94 kb in length. This allele, which encodes TBC1 domain family member 2B protein, is involved in the early steps of endocytosis. Mutation of the gene is associated with neurodevelopmental disorder with seizures and gingival overgrowth.;

NCI Metathesaurus CUI : CL1794163;

GenBank Accession Number : AB028978;

Details

Origin ID

C189271;

UMLS CUI

C5702701;

OMIM relation
- Tbc1 domain family, member 2b [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Tbc1 domain family, member 2b [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Endocytotic Process [NCIt concept]
- Intracellular Signaling Process [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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