DiGeorge syndrome critical region 14; DiGeorge syndrome critical region 13; DiGeorge syndrome protein H; protein DGCR14; DGS-H; protein ES2 (DGCR14, DGCR13, DGSH, DGSI, ES2)

Function

• may be involved in pre-mRNA splicing
• identified in the spliceosome C complex

Structure

belongs to the DGCR14 family

Compartment

nucleus (putative)

Expression

• highly expressed in heart, brain & skeletal muscle
• detected at low levels in placenta

More general terms

• DiGeorge syndrome critical region protein (DGCR)
• nuclear protein
• phosphoprotein

Additional terms

• DiGeorge syndrome; velocardiofacial syndrome; pharyngeal pouch syndrome

Component of

• spliceosome C complex

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8220
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:8220
• OMIM: https://mirror.omim.org/entry/601755
• UniProt: http://www.uniprot.org/uniprot/Q96DF8.html