Human Gene ANKRD11 (uc002fnd.3) Description and Page Index
  Description: Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 4, non-coding RNA.
RefSeq Summary (NR_045839): 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].
Transcript (Including UTRs)
   Position: hg19 chr16:89,353,070-89,484,776 Size: 131,707 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr16:89,354,876-89,371,640 Size: 16,765 Coding Exon Count: 5 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsOther Names
GeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr16:89,353,070-89,484,776)mRNA (may differ from genome)Protein (233 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
LynxMGIPubMedStanford SOURCETreefam

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ANKRD11
CDC HuGE Published Literature: ANKRD11
Positive Disease Associations: Blood Pressure Determination , Heart Failure , Schizophrenia
Related Studies:
  1. Blood Pressure Determination
    , , . [PubMed 0]
  2. Blood Pressure Determination
    , , . [PubMed 0]
  3. Heart Failure
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: ANKRD11
Diseases sorted by gene-association score: kbg syndrome* (1408), intellectual disability* (438), monocular esotropia* (400), astigmatism* (400), esotropia* (400), baraitser-winter syndrome 1* (231), cryptorchidism* (231), alacrima, achalasia, and mental retardation syndrome* (78), 16q24.3 microdeletion syndrome* (43), nasal cavity lymphoma (16), nasal cavity cancer (9), lymphocele (6), rectal disease (5), epidural neoplasm (5), nasal cavity squamous cell carcinoma (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.45 RPKM in Pituitary
Total median expression: 490.81 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -115.27340-0.339 Picture PostScript Text
3' UTR -732.921806-0.406 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     

-  Descriptions from all associated GenBank mRNAs
  AY373756 - Homo sapiens ankyrin repeat-containing protein (ANKRD11) mRNA, complete cds.
AY533563 - Homo sapiens ankyrin repeat-containing cofactor-1 (ANCO1) mRNA, complete cds.
AK290994 - Homo sapiens cDNA FLJ78738 partial cds, highly similar to Homo sapiens ankyrin repeat-containing cofactor-1 (ANCO1) mRNA.
BC017437 - Homo sapiens ankyrin repeat domain 11, mRNA (cDNA clone IMAGE:2962958).
AB209186 - Homo sapiens mRNA for ankyrin repeat domain 11 variant protein.
AF121775 - Homo sapiens nasopharyngeal carcinoma susceptibility protein LZ16 mRNA, complete cds.
BC052290 - Homo sapiens ankyrin repeat domain 11, mRNA (cDNA clone IMAGE:6083559).
BC069013 - Homo sapiens ankyrin repeat domain 11, mRNA (cDNA clone IMAGE:5952586), partial cds.
BC025283 - Homo sapiens ankyrin repeat domain 11, mRNA (cDNA clone IMAGE:5018419).
BC041059 - Homo sapiens ankyrin repeat domain 11, mRNA (cDNA clone IMAGE:5443445), with apparent retained intron.
KJ534770 - Homo sapiens clone ANKRD11_iso-A_adult-A09 ankyrin repeat domain 11 isoform A (ANKRD11) mRNA, partial cds, alternatively spliced.
AK025964 - Homo sapiens cDNA: FLJ22311 fis, clone HRC05185, highly similar to AF121775 Homo sapiens nasopharyngeal carcinoma susceptibility protein LZ16 mRNA.
KM670020 - Homo sapiens truncated ankyrin repeat domain 11 aberrant transcript 2 (ANKRD11) mRNA, complete cds.
KM670019 - Homo sapiens truncated ankyrin repeat domain 11 aberrant transcript 1 (ANKRD11) mRNA, complete cds.
AY726574 - Homo sapiens clone TESTIS-738 mRNA sequence.
AK125549 - Homo sapiens cDNA FLJ43561 fis, clone PUAEN2003079.
JD046786 - Sequence 27810 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BC025283
UCSC ID: uc002fnd.3
RefSeq Accession: NR_045839

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ANKRD11:
kbgs (KBG Syndrome)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: BC025283.1
exon count: 7CDS single in 3' UTR: no RNA size: 2812
ORF size: 702CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1355.50frame shift in genome: no % Coverage: 99.29
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 1866# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.