CPNE7 Summary

This gene encodes a member of the copine family, which is composed of calcium-dependent membrane-binding proteins. The gene product contains two N-terminal C2 domains and one von Willebrand factor A domain. The encoded protein may be involved in membrane trafficking. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]

CPNE7 Details

Gene Symbol : CPNE7

Gene Name : Copine 7

Chromosome : CHR 16: 895,757,67-895,972,45

Locus : 16q24.3

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ANKRD11 Summary

This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012]

ANKRD11 Details

Gene Symbol : ANKRD11

Gene Name : Ankyrin repeat domain 11

Chromosome : CHR 16: 894,905,60-892,676,18

Locus : 16q24.3

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