ANKRD11 (NM_013275) - ankyrin repeat domain 11
Ankyrin Repeat Domain-Containing Protein 11
Legend
Protein
Kinases
Sites
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Interactions
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Protein 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].
- Strand
- -
- Chromosome
- 16
- Protein
- 2663 residues
- All mutations
- 566
- PTM sites
- 66
- CDS
- 89,334,885 - 89,383,427
- Transcription
- 89,334,028 - 89,556,969
Usage summary
Network
PTM site
Kinases group
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Kinase, PTM site or protein
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External references
- Entrez
- gene: 29123
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UniProt