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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
  • Ankyrin Repeat Domain-Containing Protein 11 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 ANKRD12.

UniProtKB/Swiss-Prot for ANKRD11 Gene

  • Chromatin regulator which modulates histone acetylation and gene expression in neural precursor cells (By similarity). May recruit histone deacetylases (HDACs) to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation (PubMed:15184363). Has a role in proliferation and development of cortical neural precursors (PubMed:25556659). May also regulate bone homeostasis (By similarity).

No data available for CIViC summary , 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

Enhancers for ANKRD11 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G089480 2.1 FANTOM5 Ensembl ENCODE dbSUPER 9.7 +3.8 3821 12.0 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC SPG7 RPL13 ZNF778 RNU6-430P SNORD68 MC1R AFG3L1P ENSG00000260121 ZNF276 ANKRD11
GH16G089405 1.8 FANTOM5 Ensembl ENCODE dbSUPER 8.9 +81.7 81748 7.1 HDGF FOXA2 PKNOX1 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF121 GLIS2 RNU6-430P ANKRD11 SPG7 ZNF276 SPATA2L TCF25 ACSF3 CBFA2T3 ZNF778 ENSG00000261574
GH16G089313 2.2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 7 +170.0 169971 14.6 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 ZBTB7B YY1 ENSG00000259877 CTU2 AFG3L1P LOC100289580 CDK10 DBNDD1 ZNF276 ANKRD11 LOC100287036 SPG7
GH16G089356 1.9 FANTOM5 Ensembl ENCODE dbSUPER 8.1 +129.2 129188 9.3 HDGF PKNOX1 FOXA2 ARNT CREB3L1 ARID4B SIN3A FEZF1 YY1 SLC30A9 RNU6-430P ANKRD11 SPG7 ZNF276 SPATA2L CBFA2T3 PIR55522 LOC100287036
GH16G089421 2 FANTOM5 Ensembl ENCODE dbSUPER 6.4 +67.6 67560 2.4 HDGF FOXA2 PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 FEZF1 ZNF2 SNORD68 MC1R AFG3L1P ENSG00000260121 ENSG00000268218 ZNF778 SPG7 RPL13 ANKRD11 TCF25
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ANKRD11 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for ANKRD11 Gene

89,267,619 bp from pter
89,490,574 bp from pter
222,956 bases
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:
    Recommended name:
    Ankyrin repeat domain-containing protein 11
    Protein Accession:
    Secondary Accessions:
    • Q6NTG1
    • Q6QMF8

    Protein attributes for ANKRD11 Gene

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

neXtProt entry for ANKRD11 Gene

Post-translational modifications for ANKRD11 Gene

  • Subject to proteasomal degradation which is probably essential to regulate its activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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

No data available for UniProtKB/Swiss-Prot for ANKRD11 Gene

Function for ANKRD11 Gene

Molecular function for ANKRD11 Gene

UniProtKB/Swiss-Prot Function:
Chromatin regulator which modulates histone acetylation and gene expression in neural precursor cells (By similarity). May recruit histone deacetylases (HDACs) to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation (PubMed:15184363). Has a role in proliferation and development of cortical neural precursors (PubMed:25556659). May also regulate bone homeostasis (By similarity).
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

CRISPR Products

Inhibitory RNA 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

Nucleus. Note=Localizes to chromatin during prometaphase. {ECO:0000269 PubMed:25413698}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANKRD11 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for ANKRD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21782149
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane 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:0001894 tissue homeostasis IEA --
GO:0035264 multicellular organism growth IEA --
GO:0042475 odontogenesis of dentin-containing tooth IMP 21782149
GO:0048705 skeletal system 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:

CRISPR Products

Inhibitory RNA Products

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: - - - - - - - -
SP7: - - -
SP8: - -
SP9: - - - -
SP11: - - -
SP12: - -

ExUns: 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20

Relevant External Links for ANKRD11 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ANKRD11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ANKRD11 Gene

NURSA nuclear receptor signaling pathways regulating expression of ANKRD11 Gene:


SOURCE GeneReport for Unigene cluster for ANKRD11 Gene:


Evidence on tissue expression from TISSUES for ANKRD11 Gene

  • Pancreas(4.2)
  • Lymph node(2.9)
  • Intestine(2.6)
  • Nervous system(2.6)
  • Skin(2.1)
  • Lung(2)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD11 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tooth
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
  • pelvis
  • testicle
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • coagulation system
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ANKRD11: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
(Pan troglodytes)
Mammalia ANKRD11 35
  • 99 (a)
(Canis familiaris)
Mammalia ANKRD11 34 35
  • 81.11 (n)
(Mus musculus)
Mammalia Ankrd11 34 16 35
  • 79.9 (n)
(Bos Taurus)
Mammalia ANKRD11 34 35
  • 79.72 (n)
(Rattus norvegicus)
Mammalia Ankrd11 34
  • 79.54 (n)
(Monodelphis domestica)
Mammalia ANKRD11 35
  • 73 (a)
(Ornithorhynchus anatinus)
Mammalia ANKRD11 35
  • 72 (a)
(Gallus gallus)
Aves ANKRD11 34 35
  • 73.45 (n)
(Anolis carolinensis)
Reptilia ANKRD11 35
  • 67 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ankrd11 34
  • 63.84 (n)
Str.20224 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.23820 34
(Danio rerio)
Actinopterygii ankrd11 34 35
  • 59.35 (n)
wufi04c06 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5161 34
fruit fly
(Drosophila melanogaster)
Insecta CG10984 35
  • 30 (a)
Species where no ortholog for ANKRD11 was found in the sources mined by GeneCards:
  • 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

Gene Tree for ANKRD11 (if available)
Gene Tree for ANKRD11 (if available)

Paralogs for ANKRD11 Gene

Paralogs for ANKRD11 Gene 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
VAR_075870 KBG syndrome (KBGS) [MIM:148050]
rs1057518663 Pathogenic 89,283,420(-) GAAAT(A/C)AATCC reference, stop-gained
rs1057519399 Pathogenic 89,281,038(-) GCCCC(-/T)GCCCC reference, frameshift-variant
rs761848111 Pathogenic 89,282,980(+) CCCTC(A/G)GTCCT reference, stop-gained
rs763407068 Pathogenic 89,280,330(+) GAAGT(A/C/G)ACTTG reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1385n106 CNV deletion 24896259
dgv1665e59 CNV duplication 20981092
dgv3066n100 CNV gain 25217958
dgv384e201 CNV deletion 23290073
dgv508n67 CNV gain 20364138
dgv5322n54 CNV loss 21841781
dgv555e214 CNV loss 21293372
esv1011253 CNV deletion 20482838
esv1067384 CNV insertion 17803354
esv1451902 CNV deletion 17803354
esv1506985 CNV deletion 17803354
esv1704981 CNV insertion 17803354
esv1728025 CNV insertion 17803354
esv1743971 CNV insertion 17803354
esv1752819 CNV insertion 17803354
esv1771804 CNV deletion 17803354
esv2283815 CNV deletion 18987734
esv2499318 CNV deletion 19546169
esv26174 CNV gain 19812545
esv2631884 CNV deletion 19546169
esv2657359 CNV deletion 23128226
esv2662057 CNV deletion 23128226
esv2665887 CNV deletion 23128226
esv2715142 CNV deletion 23290073
esv2715143 CNV deletion 23290073
esv2715144 CNV deletion 23290073
esv2715145 CNV deletion 23290073
esv2715146 CNV deletion 23290073
esv2715148 CNV deletion 23290073
esv2715150 CNV deletion 23290073
esv2715151 CNV deletion 23290073
esv2715153 CNV deletion 23290073
esv2715154 CNV deletion 23290073
esv2715155 CNV deletion 23290073
esv2715156 CNV deletion 23290073
esv2715157 CNV deletion 23290073
esv2715158 CNV deletion 23290073
esv2715159 CNV deletion 23290073
esv2715160 CNV deletion 23290073
esv2715161 CNV deletion 23290073
esv2715162 CNV deletion 23290073
esv2715164 CNV deletion 23290073
esv2715165 CNV deletion 23290073
esv2743301 CNV deletion 23290073
esv2758670 CNV gain 17122850
esv2763149 CNV gain 21179565
esv3639574 CNV gain 21293372
esv3639575 CNV loss 21293372
esv3639576 CNV gain 21293372
esv3639577 CNV loss 21293372
esv3639579 CNV gain 21293372
esv3639581 CNV loss 21293372
esv3639582 CNV loss 21293372
esv3639583 CNV loss 21293372
esv3892940 CNV loss 25118596
esv992694 CNV insertion 20482838
esv994831 CNV deletion 20482838
esv998083 CNV deletion 20482838
nsv103332 CNV deletion 16902084
nsv103540 CNV deletion 16902084
nsv1063483 CNV gain 25217958
nsv1064089 CNV loss 25217958
nsv1071314 CNV deletion 25765185
nsv1109037 CNV deletion 24896259
nsv1116174 CNV deletion 24896259
nsv1121519 CNV deletion 24896259
nsv1138484 CNV deletion 24896259
nsv1138485 CNV deletion 24896259
nsv1138486 CNV deletion 24896259
nsv1150658 CNV deletion 26484159
nsv428331 CNV gain+loss 18775914
nsv457622 CNV loss 19166990
nsv469681 CNV loss 16826518
nsv471118 CNV gain 18288195
nsv482951 CNV loss 15286789
nsv509638 CNV insertion 20534489
nsv512455 CNV loss 21212237
nsv573674 CNV gain 21841781
nsv573734 CNV loss 21841781
nsv573735 CNV loss 21841781
nsv827843 CNV gain 20364138
nsv9476 CNV loss 18304495
nsv952073 CNV deletion 24416366
nsv952074 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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
nasal cavity lymphoma
  • lymphoma of nasal cavity
nasal cavity cancer
  • malignant neoplasm of nasal cavities
  • lymph cyst
- elite association - COSMIC cancer census association via MalaCards


  • 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, ECO:0000269 PubMed:25413698}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ANKRD11

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

No data available for Genatlas for ANKRD11 Gene

Publications for ANKRD11 Gene

  1. Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. (PMID: 25413698) Walz K. … Tekin M. (Hum. Genet. 2015) 3 4 64
  2. 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 64
  3. Identification of ANKRD11 as a p53 coactivator. (PMID: 18840648) Neilsen P.M. … Callen D.F. (J. Cell. Sci. 2008) 3 22 64
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  5. Identification of a novel family of ankyrin repeats-containing cofactors for p160 nuclear receptor coactivators. (PMID: 15184363) Zhang A. … Chen J.D. (J. Biol. Chem. 2004) 3 4 64

Products for ANKRD11 Gene

Sources for ANKRD11 Gene

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