SOX11 wt Allele

Preferred Label : SOX11 wt Allele;

NCIt synonyms : SRY-Related HMG-Box Gene 11; SRY-Box 11 wt Allele; SRY (Sex Determining Region Y)-Box 11 Gene; SRY Box 11 Gene; MRD27; SRY (Sex-Determining Region Y)-Box 11 Gene;

NCIt definition : Human SOX11 wild-type allele is located in the vicinity of 2p25 and is approximately 9 kb in length. This allele, which encodes transcription factor SOX-11 protein, plays a role in the negative regulation of transcription.;

GenBank Accession Number : NM_003108;

Details

Origin ID

C105080;

UMLS CUI

C3538868;

Automatic exact mappings (from CISMeF team)
- Coffin-Siris syndrome 9 [DO Concept]
- SRY-box transcription factor 11 [ORDO Gene]
- SRY-box transcription factor 11 [HGNC gene]
- Sry-box 11 [OMIM gene]
OMIM relation
- Sry-box 11 [OMIM gene]
See also inter- (CISMeF)
- Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism [OMIM Phenotype]
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
- 2p25 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- Transcriptional Repression [NCIt concept]

Keyword's position in hierarchy(ies) :

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