ANKRD11 ankyrin repeat domain containing 11
Gene ID: 29123, updated on 17-Jun-2024Gene type: protein coding
Also known as: T13; LZ16; ANCO1; ANCO-1
- See all available tests in GTR for this gene
- Go to complete Gene record for ANKRD11
- Go to Variation Viewer for ANKRD11 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| KBG syndrome | See labs |
| The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2022-06-14) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2022-06-14) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 16q24.3
- Sequence:
- Chromosome: 16; NC_000016.10 (89267630..89490561, complement)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ANKRD11 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ANKRD11 @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Iran Variation Database - ANKRD11
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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