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Gene : ANKRD11 Homo sapiens

Name  ? ankyrin repeat domain 11 Cytological Location  16q24.3
Brief Description  ankyrin repeat domain 11
description  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]
  • synonyms:
  • NM_013275,
  • LZ16,
  • ANCO-1,
  • ANKRD11,
  • uc002fmx.3,
  • LZ16,
  • ANCO1,
  • AY373756,
  • OTTHUMG00000175548,
  • HGNC:21316,
  • T13,
  • T13
  • identifiers:
  • 29123,
  • ENSG00000167522,
  • ANKRD11

Genome feature

Region: gene ? Length: 222943  
Location: 16:89267619-89490561 reverse strand Cyto location: 16q24.3


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

323 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

90 Rna Seq Results