ESS2 ess-2 splicing factor homolog
Gene ID: 8220, updated on 7-Jul-2024Gene type: protein coding
Also known as: ES2; DGSH; DGSI; bis1; DGS-H; DGS-I; ESS-2; Es2el; DGCR13; DGCR14
- See all available tests in GTR for this gene
- Go to complete Gene record for ESS2
- Go to Variation Viewer for ESS2 variants
Summary
This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Velocardiofacial syndrome | See labs |
Genomic context
- Location:
- 22q11.21; 22q11.2
- Sequence:
- Chromosome: 22; NC_000022.11 (19130279..19144651, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ESS2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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