Symbol: Name: ID: |
DGCR14 DiGeorge syndrome critical region gene 14 GFS:5903 |
Gene name: | DGCR14 |
Chromosome: | 22q11.21 |
Previous Symbols: | DGCR13 |
Previous Names: | DiGeorge syndrome critical region gene 13 |
Aliases: | DGSI, Es2el, ES2, DGS-H |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:107854 | Rat Genome Database ID: | RGD:1308218 |
HGNC ID: | HGNC:16817 | RefSeq IDs: | NM_022719 |
Entrez Gene ID: | 8220 | Ensembl Gene ID: | ENSG00000100056 |
VEGA IDs: | OTTHUMG00000150119 | UniProt ID: | Q96DF8 |
UCSC ID: | uc002zou.2 | OMIM ID: | 601755 |
Pubmed: | PMID8776594 PMID 9063747 | ||
CCDS IDs: | CCDSCCDS13756.1 |
Protein DGCR14 is a protein that in humans is encoded by the DGCR14 gene.
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. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: May be involved in pre-mRNA splicing.
Products for DGCR14 gene
Catalog | Product Name | Application | Company |
GFS:E05903 | DiGeorge syndrome critical region gene 14; ELISA kit | ELISA | n/a |
GFS:A05903 | DiGeorge syndrome critical region gene 14; Anti | ANTIBODIES | n/a |
GFS:P05903 | DiGeorge syndrome critical region gene 14; Protien | Protien | n/a |