Homo sapiens Gene: ANKRD11
Summary
InnateDB Gene IDBG-47304.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ANKRD11
Gene Name ankyrin repeat domain 11
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000167522
Encoded Proteins
ankyrin repeat domain 11
ankyrin repeat domain 11
ankyrin repeat domain 11
ankyrin repeat domain 11
ankyrin repeat domain 11
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:89267627-89490561
Strand Reverse strand
Band q24.3
Transcripts
ENST00000301030 ENSP00000301030
ENST00000330736 ENSP00000330815
ENST00000378332 ENSP00000367583
ENST00000378330 ENSP00000367581
ENST00000566858
ENST00000564553
ENST00000563291 ENSP00000455008
ENST00000568924
ENST00000568512
ENST00000567736
ENST00000567699
ENST00000562816
ENST00000568100
ENST00000562194 ENSP00000458043
ENST00000562275 ENSP00000454550
ENST00000566973
ENST00000623388
ENST00000613312 ENSP00000478018
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
Experimentally validated
Total 18 [view]
Protein-Protein 18 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0001701 in utero embryonic development
GO:0001894 tissue homeostasis
GO:0035264 multicellular organism growth
GO:0042475 odontogenesis of dentin-containing tooth
GO:0048705 skeletal system morphogenesis
GO:0060323 head morphogenesis
GO:0060325 face morphogenesis
GO:0060348 bone development
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 29123
UniGene Hs.604482 Hs.609775 Hs.623340 Hs.739334 Hs.740440
RefSeq NM_001256182 NM_001256183 NM_013275 XM_006721181 XM_006721182 XM_006721183 XM_006721184
HUGO HGNC:21316
OMIM 611192
CCDS CCDS32513
HPRD 12456
IMGT
EMBL
GenPept
RNA Seq Atlas 102725096 29123