DEAF1 DEAF1 transcription factor

Gene ID: 10522, updated on 7-Apr-2024
Gene type: protein coding
Also known as: SPN; NUDR; VSVS; MRD24; ZMYND5; NEDHELS

Summary

This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Intellectual disability, autosomal dominant 24 MedGen: C4014414OMIM: 615828GeneReviews: Not available	See labs
Intellectual disability-epilepsy-extrapyramidal syndrome MedGen: C4310683OMIM: 617171GeneReviews: Not available	See labs

Genomic context

Location:: 11p15.5

Sequence:: Chromosome: 11; NC_000011.10 (644220..707083, complement)

Total number of exons:: 19

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for DEAF1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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