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Ankrd11 Gene Detail
Summary
  • Symbol
    Ankrd11
  • Name
    ankyrin repeat domain 11
  • Synonyms
    2410104C19Rik, 3010027A04Rik, 9530048I21Rik, Yod
  • Feature Type
    protein coding gene
  • IDs
    MGI:1924337
    NCBI Gene: 77087
Location & Maps
more
  • Sequence Map
    Chr8:122883337-122974793 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      91457 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 72.00 cM, cytoband E2
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    ANKRD11, ankyrin repeat domain 11
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ANKRD11, ankyrin repeat domain 11
    Orthology source: HomoloGene
  • Synonyms
    ANCO1, ANCO-1, LZ16, T13
  • Links
    NCBI Gene ID: 29123
    neXtProt AC: NX_Q6UB99

  • Chr Location
    16q24.3; chr16:89267619-89490574 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human ANKRD11 associations

Human Disease Mouse Models
       Kbg Syndrome; KBGS   OMIM: 148050
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 2 alleles in 2 genetic backgrounds
    15 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    109
  • Chemically induced (ENU)
    1
  • Gene trapped
    105
  • Targeted
    3
  • Incidental Mutations
Mice homozygous for a spontaneous allele die by E9.5, are small and fail to turn. Mice heterozygous for a spontaneous allele exhibit craniofacial abnormalities, decreased weight, osteoporosis and osteopenia.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000037981 VEGA Gene Model | MGI Sequence Detail 91457 C57BL/6J ±  kb
transcript OTTMUST00000097880 VEGA | MGI Sequence Detail 8869 Not Applicable  
polypeptide OTTMUSP00000054895 VEGA | MGI Sequence Detail 2643 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    639 from dbSNP Build 142
Protein
Information
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  • UniProt
    11 Sequences
  • InterPro Domains
    IPR002110 Ankyrin repeat
    IPR020683 Ankyrin repeat-containing domain
Molecular
Reagents
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  • All nucleic 271
    cDNA 271

    Microarray probesets 12
Other
Accession IDs
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MGI:1890436, MGI:1924033, MGI:1925914, MGI:2142446, MGI:2685022
References
more
  • Summaries
    All 43
    Gene Ontology 4
    Phenotypes 15
  • Earliest
    J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-le-grand). 1999 Jul;45(5):737-50
  • Latest
    J:186795 Sirmaci A, et al., Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet. 2011 Aug 12;89(2):289-94

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory