Ankyrin repeat domain 11

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
ANKRD11
Identifiers
AliasesANKRD11, ANCO-1, ANCO1, LZ16, T13, ankyrin repeat domain 11
External IDsOMIM: 611192 MGI: 1924337 HomoloGene: 69134 GeneCards: ANKRD11
Gene location (Human)
Chromosome 16 (human)
Chr.Chromosome 16 (human)[1]
Chromosome 16 (human)
Genomic location for ANKRD11
Genomic location for ANKRD11
Band16q24.3Start89,267,630 bp[1]
End89,490,561 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001256182
NM_001256183
NM_013275

NM_001081379

RefSeq (protein)

NP_001243111
NP_001243112
NP_037407

NP_001074848

Location (UCSC)Chr 16: 89.27 – 89.49 MbChr 8: 122.88 – 123.04 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Ankyrin repeat domain 11 is a protein that in humans is encoded by the ANKRD11 gene.[5]

Function[edit]

This locus encodes an ankyrin 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.

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000167522 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035569 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Ankyrin repeat domain 11". Retrieved 2018-04-12.

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.