DGCR14

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DiGeorge syndrome critical region gene 14
Identifiers
Symbols DGCR14 ; DGCR13; DGS-H; DGS-I; DGSH; DGSI; ES2; Es2el
External IDs OMIM601755 MGI107854 HomoloGene11184 GeneCards: DGCR14 Gene
RNA expression pattern
PBB GE DGCR14 32032 at tn.png
PBB GE DGCR14 204383 at tn.png
PBB GE DGCR14 217285 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8220 27886
Ensembl ENSG00000100056 ENSMUSG00000003527
UniProt Q96DF8 O70279
RefSeq (mRNA) NM_022719 NM_001081633
RefSeq (protein) NP_073210 NP_001075102
Location (UCSC) Chr 22:
19.12 – 19.13 Mb
Chr 16:
17.9 – 17.91 Mb
PubMed search [1] [2]

Protein DGCR14 is a protein that in humans is encoded by the DGCR14 gene.[1][2][3]

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.[3]

References[edit]

  1. ^ Gong W, Emanuel BS, Collins J, Kim DH, Wang Z, Chen F, Zhang G, Roe B, Budarf ML (Dec 1996). "A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11". Hum Mol Genet 5 (6): 789–800. doi:10.1093/hmg/5.6.789. PMID 8776594. 
  2. ^ Gong W, Emanuel BS, Galili N, Kim DH, Roe B, Driscoll DA, Budarf ML (Aug 1997). "Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region". Hum Mol Genet 6 (2): 267–276. doi:10.1093/hmg/6.2.267. PMID 9063747. 
  3. ^ a b "Entrez Gene: DGCR14 DiGeorge syndrome critical region gene 14". 

Further reading[edit]