Human Gene ANKRD11 (uc002fnc.2) Description and Page Index
Description: Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 3, mRNA. RefSeq Summary (NM_001256183): 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]. Transcript (Including UTRs) Position: hg19 chr16:89,334,029-89,556,969 Size: 222,941 Total Exon Count: 13 Strand: - Coding Region Position: hg19 chr16:89,334,886-89,383,427 Size: 48,542 Coding Exon Count: 11
ID:ANR11_HUMAN DESCRIPTION: RecName: Full=Ankyrin repeat domain-containing protein 11; AltName: Full=Ankyrin repeat-containing cofactor 1; FUNCTION: May recruit HDACs to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation. SUBUNIT: Interacts with the PAS region of the p160 coactivators. SUBCELLULAR LOCATION: Nucleus. DISEASE: Defects in ANKRD11 are the cause of KBG syndrome (KBGS) [MIM:148050]. A syndrome characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability. SIMILARITY: Contains 4 ANK repeats. SEQUENCE CAUTION: Sequence=AAH69013.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
Genetic Association Studies of Complex Diseases and Disorders
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q6UB99
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.