DGCR14

GENE INFORMATION

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Gene name

DGCR14 (HGNC Symbol)

Synonyms

DGCR13, DGS-H, DGSI, ES2, Es2el

Description

DiGeorge syndrome critical region gene 14 (HGNC Symbol)

Entrez gene 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. [provided by RefSeq, Jul 2008]

Chromosome

22

Cytoband

q11.21

Chromosome location (bp)

19130279 - 19144684

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000100056 (version 78.38)

Entrez gene

8220

UniProt

Q96DF8 (UniProt - Evidence at protein level)

neXtProt

NX_Q96DF8

Antibodypedia

DGCR14 antibodies
 

PROTEIN VIEW

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DGCR14-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DGCR14-001 ENSP00000252137
ENST00000252137
Q96DF8
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