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Aliases for ANKRD11 Gene

Aliases for ANKRD11 Gene

  • Ankyrin Repeat Domain 11 2 3 5
  • Ankyrin Repeat-Containing Cofactor 1 3 4
  • ANCO1 3 4
  • Truncated Ankyrin Repeat Domain 11 Aberrant Transcript 1 3
  • Truncated Ankyrin Repeat Domain 11 Aberrant Transcript 2 3
  • Nasopharyngeal Carcinoma Susceptibility Protein 3
  • ANCO-1 3
  • LZ16 3
  • T13 3

External Ids for ANKRD11 Gene

Previous GeneCards Identifiers for ANKRD11 Gene

  • GC16M089095
  • GC16M089077
  • GC16M087861
  • GC16M089334
  • GC16M075032

Summaries for ANKRD11 Gene

Entrez Gene Summary for ANKRD11 Gene

  • 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]

GeneCards Summary for ANKRD11 Gene

ANKRD11 (Ankyrin Repeat Domain 11) is a Protein Coding gene. Diseases associated with ANKRD11 include kbg syndrome and 16q24.3 microdeletion syndrome. An important paralog of this gene is BCORL1.

UniProtKB/Swiss-Prot for ANKRD11 Gene

  • May recruit HDACs to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKRD11 Gene

Genomics for ANKRD11 Gene

Regulatory Elements for ANKRD11 Gene

Promoters for ANKRD11 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ANKRD11 on UCSC Golden Path with GeneCards custom track

Genomic Location for ANKRD11 Gene

Chromosome:
16
Start:
89,267,619 bp from pter
End:
89,490,574 bp from pter
Size:
222,956 bases
Orientation:
Minus strand

Genomic View for ANKRD11 Gene

Genes around ANKRD11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD11 Gene

Proteins for ANKRD11 Gene

  • Protein details for ANKRD11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UB99-ANR11_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 11
    Protein Accession:
    Q6UB99
    Secondary Accessions:
    • Q6NTG1
    • Q6QMF8

    Protein attributes for ANKRD11 Gene

    Size:
    2663 amino acids
    Molecular mass:
    297913 Da
    Quaternary structure:
    • Interacts with the PAS region of the p160 coactivators.
    SequenceCaution:
    • Sequence=AAH69013.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

neXtProt entry for ANKRD11 Gene

Proteomics data for ANKRD11 Gene at MOPED

Post-translational modifications for ANKRD11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for ANKRD11 Gene

Domains & Families for ANKRD11 Gene

Gene Families for ANKRD11 Gene

Protein Domains for ANKRD11 Gene

Graphical View of Domain Structure for InterPro Entry

Q6UB99

UniProtKB/Swiss-Prot:

ANR11_HUMAN :
  • Contains 4 ANK repeats.
Similarity:
  • Contains 4 ANK repeats.
genes like me logo Genes that share domains with ANKRD11: view

Function for ANKRD11 Gene

Molecular function for ANKRD11 Gene

UniProtKB/Swiss-Prot Function:
May recruit HDACs to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation.
genes like me logo Genes that share phenotypes with ANKRD11: view

Human Phenotype Ontology for ANKRD11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ANKRD11 Gene

MGI Knock Outs for ANKRD11:

Animal Model Products

  • Taconic Biosciences Mouse Models for ANKRD11

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for ANKRD11 Gene

Localization for ANKRD11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKRD11 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANKRD11 Gene COMPARTMENTS Subcellular localization image for ANKRD11 gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytosol 3

Gene Ontology (GO) - Cellular Components for ANKRD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with ANKRD11: view

Pathways & Interactions for ANKRD11 Gene

SuperPathways for ANKRD11 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0042475 odontogenesis of dentin-containing tooth IMP 21782149
GO:0048705 skeletal system morphogenesis IEA,IMP 21782149
GO:0060323 head morphogenesis IEA --
GO:0060325 face morphogenesis IMP 21782149
genes like me logo Genes that share ontologies with ANKRD11: view

No data available for Pathways by source and SIGNOR curated interactions for ANKRD11 Gene

Drugs & Compounds for ANKRD11 Gene

No Compound Related Data Available

Transcripts for ANKRD11 Gene

Unigene Clusters for ANKRD11 Gene

Ankyrin repeat domain 11:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD11 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a ·
SP1: - - - - - - - - - - - - - -
SP2: - - - - - - - - - - - - - -
SP3: - - - - - -
SP4: - - -
SP5: - - - - - - - -
SP6:
SP7: - - -
SP8: - -
SP9: - - - -
SP10:
SP11: - - -
SP12: - -
SP13:

ExUns: 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for ANKRD11 Gene

GeneLoc Exon Structure for
ANKRD11
ECgene alternative splicing isoforms for
ANKRD11

Expression for ANKRD11 Gene

mRNA expression in normal human tissues for ANKRD11 Gene

Protein differential expression in normal tissues from HIPED for ANKRD11 Gene

This gene is overexpressed in Fetal gut (33.6) and Liver (29.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for ANKRD11 Gene



SOURCE GeneReport for Unigene cluster for ANKRD11 Gene Hs.740440

genes like me logo Genes that share expression patterns with ANKRD11: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for ANKRD11 Gene

Orthologs for ANKRD11 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKRD11 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ANKRD11 35
  • 79.72 (n)
  • 80.01 (a)
ANKRD11 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANKRD11 35
  • 81.11 (n)
  • 81.44 (a)
ANKRD11 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ankrd11 35
  • 79.9 (n)
  • 80.99 (a)
Ankrd11 16
Ankrd11 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankrd11 35
  • 79.54 (n)
  • 80.78 (a)
oppossum
(Monodelphis domestica)
Mammalia ANKRD11 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD11 36
  • 72 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ANKRD11 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKRD11 35
  • 73.45 (n)
  • 71.48 (a)
ANKRD11 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKRD11 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankrd11 35
  • 63.84 (n)
  • 63.94 (a)
Str.20224 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.23820 35
zebrafish
(Danio rerio)
Actinopterygii ankrd11 35
  • 59.35 (n)
  • 56.72 (a)
wufi04c06 35
ankrd11 36
  • 51 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5161 35
fruit fly
(Drosophila melanogaster)
Insecta CG10984 36
  • 30 (a)
OneToMany
Species with no ortholog for ANKRD11:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ANKRD11 Gene

ENSEMBL:
Gene Tree for ANKRD11 (if available)
TreeFam:
Gene Tree for ANKRD11 (if available)

Paralogs for ANKRD11 Gene

Paralogs for ANKRD11 Gene

Pseudogenes.org Pseudogenes for ANKRD11 Gene

genes like me logo Genes that share paralogs with ANKRD11: view

Variants for ANKRD11 Gene

Sequence variations from dbSNP and Humsavar for ANKRD11 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs10490 -- 89,287,036(+) ACAAA(A/C)CCTCA intron-variant, nc-transcript-variant
rs167956 -- 89,342,002(-) TGGGC(C/T)GTGGC intron-variant
rs167957 -- 89,368,185(+) CCACT(C/T)TTAAC intron-variant
rs167958 -- 89,368,304(+) cgatt(C/T)tcctg intron-variant
rs172989 -- 89,341,996(-) GTGGC(C/T)GCTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANKRD11 Gene

Variant ID Type Subtype PubMed ID
dgv2998n71 CNV Loss 21882294
nsv907357 CNV Loss 21882294
dgv3002n71 CNV Loss 21882294
nsv907394 CNV Loss 21882294
nsv509638 CNV Insertion 20534489
nsv469681 CNV Complex 16826518
nsv457622 CNV Loss 19166990
nsv827843 CNV Gain 20364138
nsv428331 CNV Gain+Loss 18775914
nsv907397 CNV Gain 21882294
dgv3007n71 CNV Loss 21882294
nsv907399 CNV Loss 21882294
dgv508n67 CNV Gain 20364138
nsv103332 CNV Loss 16902084
esv2715142 CNV Deletion 23290073
esv2715143 CNV Deletion 23290073
esv2715144 CNV Deletion 23290073
esv2715145 CNV Deletion 23290073
esv1011253 CNV Deletion 20482838
esv1743971 CNV Insertion 17803354
esv2715146 CNV Deletion 23290073
esv998083 CNV Deletion 20482838
esv1704981 CNV Insertion 17803354
dgv421e201 CNV Deletion 23290073
esv2715148 CNV Deletion 23290073
esv2715150 CNV Deletion 23290073
esv2715151 CNV Deletion 23290073
esv1728025 CNV Insertion 17803354
esv992694 CNV Insertion 20482838
esv2657359 CNV Deletion 23128226
dgv922e1 CNV Complex 17122850
esv2715153 CNV Deletion 23290073
esv1752819 CNV Insertion 17803354
nsv907401 CNV Gain 21882294
esv2715154 CNV Deletion 23290073
esv2283815 CNV Deletion 18987734
esv1067384 CNV Insertion 17803354
esv2715155 CNV Deletion 23290073
esv2715156 CNV Deletion 23290073
esv2715157 CNV Deletion 23290073
esv1771804 CNV Deletion 17803354
esv2715158 CNV Deletion 23290073
esv2743301 CNV Deletion 23290073
nsv9476 CNV Loss 18304495
esv2662057 CNV Deletion 23128226
esv2499318 CNV Deletion 19546169
esv2715159 CNV Deletion 23290073
esv1506985 CNV Deletion 17803354
esv2715160 CNV Deletion 23290073
esv26174 CNV Gain 19812545
esv2631884 CNV Deletion 19546169
nsv512455 CNV Loss 21212237
nsv103540 CNV Loss 16902084
esv2715161 CNV Deletion 23290073
esv994831 CNV Deletion 20482838
nsv471118 CNV Gain 18288195
esv2715162 CNV Deletion 23290073
esv1451902 CNV Deletion 17803354
esv2715164 CNV Deletion 23290073
nsv907402 CNV Loss 21882294
esv2665887 CNV Deletion 23128226
nsv907403 CNV Loss 21882294
nsv907404 CNV Loss 21882294
nsv907405 CNV Loss 21882294
dgv3008n71 CNV Loss 21882294
dgv3009n71 CNV Loss 21882294
esv2715165 CNV Deletion 23290073

Variation tolerance for ANKRD11 Gene

Residual Variation Intolerance Score: 0.62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.49; 77.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANKRD11 Gene

HapMap Linkage Disequilibrium report
ANKRD11
Human Gene Mutation Database (HGMD)
ANKRD11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD11 Gene

Disorders for ANKRD11 Gene

MalaCards: The human disease database

(11) MalaCards diseases for ANKRD11 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
kbg syndrome
  • short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
16q24.3 microdeletion syndrome
  • chromosome 16q24.3 microdeletion syndrome
intellectual disability
nasal cavity lymphoma
  • lymphoma of nasal cavity
nasal cavity cancer
  • malignant neoplasm of nasal cavities
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ANR11_HUMAN
  • KBG syndrome (KBGS) [MIM:148050]: A syndrome characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability. {ECO:0000269 PubMed:21782149}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ANKRD11

Genetic Association Database (GAD)
ANKRD11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKRD11
genes like me logo Genes that share disorders with ANKRD11: view

No data available for Genatlas for ANKRD11 Gene

Publications for ANKRD11 Gene

  1. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. (PMID: 21782149) Sirmaci A. … Tekin M. (Am. J. Hum. Genet. 2011) 3 4 67
  2. Identification of ANKRD11 as a p53 coactivator. (PMID: 18840648) Neilsen P.M. … Callen D.F. (J. Cell. Sci. 2008) 3 23
  3. Gene expression profiling in human fetal liver and identification of tissue- and developmental-stage-specific genes through compiled expression profiles and efficient cloning of full-length cDNAs. (PMID: 11483580) Yu Y. … He F. (Genome Res. 2001) 2 3
  4. Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. (PMID: 25413698) Walz K. … Tekin M. (Hum. Genet. 2015) 3
  5. A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion. (PMID: 25464108) Kim H.J. … Kim H.J. (Eur J Med Genet 2015) 3

Products for ANKRD11 Gene

Sources for ANKRD11 Gene

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