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DGCR14

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ESS2
Identifiers
AliasesESS2, DGCR13, DGS-H, DGS-I, DGSH, DGSI, ES2, Es2el, DGCR14, DiGeorge syndrome critical region gene 14, bis1, ESS-2, ess-2 splicing factor homolog
External IDsOMIM: 601755; MGI: 107854; HomoloGene: 11184; GeneCards: ESS2; OMA:ESS2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_022719

NM_001081633
NM_022408

RefSeq (protein)

NP_073210

NP_001075102
NP_071853

Location (UCSC)n/aChr 16: 17.72 – 17.73 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Protein DGCR14 is a protein that in humans is encoded by the DGCR14 gene.[4][5][6]

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.[6]

References

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  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000003527Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ 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. CiteSeerX 10.1.1.539.9441. doi:10.1093/hmg/5.6.789. PMID 8776594.
  5. ^ 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.
  6. ^ a b "Entrez Gene: DGCR14 DiGeorge syndrome critical region gene 14".

Further reading

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