ANKRD11

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]

Description

Ankyrin repeat domain 11

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

16 (89267630 - 89490561)

Ensembl ID

ENSG00000167522  (ver. 103.38)

Orthologs

Mouse Ankrd11: ENSMUSG00000035569

UniProt

Q6UB99

neXtProt

NX_Q6UB99

Human splice variants
Mouse splice variants

Protein structure