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    ANKRD11 ankyrin repeat domain containing 11 [ Homo sapiens (human) ]

    Gene ID: 29123, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ANKRD11provided by HGNC
    Official Full Name
    ankyrin repeat domain containing 11provided by HGNC
    Primary source
    HGNC:HGNC:21316
    See related
    Ensembl:ENSG00000167522 MIM:611192; AllianceGenome:HGNC:21316
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    T13; LZ16; ANCO1; ANCO-1
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 8.0), brain (RPKM 7.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANKRD11 in Genome Data Viewer
    Location:
    16q24.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (89267630..89490561, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (95347957..95571214, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (89334038..89556969, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89284467-89284997 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89284998-89285527 Neighboring gene Sharpr-MPRA regulatory region 2584 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7896 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:89308033-89308549 Neighboring gene zinc finger protein 778 Neighboring gene uncharacterized LOC124903766 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7897 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89357571-89358417 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89360111-89360956 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89360957-89361803 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89361804-89362649 Neighboring gene uncharacterized LOC105371414 Neighboring gene keratin-associated protein 5-2-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89372939-89373605 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89379263-89380057 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89381655-89382246 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89382247-89382838 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89383431-89384022 Neighboring gene uncharacterized LOC128462377 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89384023-89384614 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89385876-89386388 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89386389-89386902 Neighboring gene uncharacterized LOC100287036 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7898 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:89389210-89390409 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:89392122-89393321 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89396817-89397340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7899 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:89403267-89403470 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89423346-89424232 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89424233-89425119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11403 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:89427458-89428657 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11404 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11408 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89435313-89436300 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89436301-89437288 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89441829-89442329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89447954-89448462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89448463-89448970 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89449335-89450009 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89450010-89450683 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89461342-89462280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89467796-89468296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89468297-89468797 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89485981-89486482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89486483-89486982 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89489639-89490139 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7901 Neighboring gene uncharacterized LOC101927817 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89499323-89500095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7902 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89520035-89520855 Neighboring gene RNA, U6 small nuclear 430, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89524753-89525254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89525255-89525754 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89529183-89530171 Neighboring gene CMPK1 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89554157-89554657 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89553656-89554156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11413 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:89555515-89556028 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:89556029-89556543 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7906 Neighboring gene uncharacterized LOC101930112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7908 Neighboring gene uncharacterized LOC101927863 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7909 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7911 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89585576-89586076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89586077-89586577 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr16:89588494-89589051 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:89589052-89589608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:89601956-89602646 Neighboring gene SPG7 matrix AAA peptidase subunit, paraplegin

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Two loss-of-function ANKRD11 variants in Chinese patients with short stature and a possible molecular pathway. Zhang T, et al. Am J Med Genet A, 2021 Mar. PMID 33354850, Free PMC Article
    2. Clinical and genetic characteristics of Keishi-Bukuryo-Gan syndrome: an analysis of 5 cases. Wang S, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban, 2021 Aug 25. PMID 34704418, Free PMC Article
    3. Abnormal frontal gyrification pattern and uncinate development in patients with KBG syndrome caused by ANKRD11 aberrations. Jiménez de la Peña M, et al. Eur J Paediatr Neurol, 2021 Nov. PMID 34547584
    4. Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3. Kutkowska-Kaźmierczak A, et al. Genes (Basel), 2021 Aug 17. PMID 34440431, Free PMC Article
    5. [Gender difference in clinical manifestations of KBG syndrome due to variants of ANKRD11 gene]. Yang Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2021 Jul 10. PMID 34247373

    See all (90) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.
      Title: Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.
    2. Loss of ANCO1 Expression Regulates Chromatin Accessibility and Drives Progression of Early-Stage Triple-Negative Breast Cancer.
      Title: Loss of ANCO1 Expression Regulates Chromatin Accessibility and Drives Progression of Early-Stage Triple-Negative Breast Cancer.
    3. Identification and functional characterization of a bipartite nuclear localization signal in ANKRD11.
      Title: Identification and functional characterization of a bipartite nuclear localization signal in ANKRD11.
    4. ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
      Title: ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
    5. Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.
      Title: Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.
    6. [Clinical and genetic analysis of three children with KBG syndrome due to novel variants of ANKRD11 gene].
      Title: [Clinical and genetic analysis of three children with KBG syndrome due to novel variants of ANKRD11 gene].
    7. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
      Title: Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
    8. Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
      Title: Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
    9. [Analysis of three patients with KBG syndrome and epileptic seizures due to variants of ANKRD11 gene].
      Title: [Analysis of three patients with KBG syndrome and epileptic seizures due to variants of ANKRD11 gene].
    10. Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.
      Title: Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.
    Submit: New GeneRIF Correction See all GeneRIFs (38)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    KBG syndrome
    MedGen: C0220687 OMIM: 148050 GeneReviews: KBG Syndrome
    		not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2022-06-14)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2022-06-14)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    acts_upstream_of_or_within face morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within odontogenesis of dentin-containing tooth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within skeletal system morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ankyrin repeat domain-containing protein 11
    Names
    ankyrin repeat domain 11
    ankyrin repeat-containing cofactor 1
    ankyrin repeats containing cofactor 1
    nasopharyngeal carcinoma susceptibility protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032003.2 RefSeqGene

      Range
      5001..227932
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001256182.2 → NP_001243111.1  ankyrin repeat domain-containing protein 11

      See identical proteins and their annotated locations for NP_001243111.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AY373756, AY533563, DA172996
      Consensus CDS
      CCDS32513.1
      UniProtKB/Swiss-Prot
      Q6NTG1, Q6QMF8, Q6UB99
      Related
      ENSP00000367581.2, ENST00000378330.7
      Conserved Domains (4) summary
      cd00204
      Location:162 → 284
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:172 → 264
      Ank_2; Ankyrin repeats (3 copies)
      pfam13476
      Location:656 → 768
      AAA_23; AAA domain
      sd00045
      Location:167 → 198
      ANK; ANK repeat [structural motif]

    2. NM_001256183.2 → NP_001243112.1  ankyrin repeat domain-containing protein 11

      See identical proteins and their annotated locations for NP_001243112.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AY373756, AY533563, BC069013, DA172996
      Consensus CDS
      CCDS32513.1
      UniProtKB/Swiss-Prot
      Q6NTG1, Q6QMF8, Q6UB99
      Related
      ENSP00000495226.1, ENST00000642600.2
      Conserved Domains (4) summary
      cd00204
      Location:162 → 284
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:172 → 264
      Ank_2; Ankyrin repeats (3 copies)
      pfam13476
      Location:656 → 768
      AAA_23; AAA domain
      sd00045
      Location:167 → 198
      ANK; ANK repeat [structural motif]

    3. NM_013275.6 → NP_037407.4  ankyrin repeat domain-containing protein 11

      See identical proteins and their annotated locations for NP_037407.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AY373756, AY533563, BC017437, DA172996
      Consensus CDS
      CCDS32513.1
      UniProtKB/Swiss-Prot
      Q6NTG1, Q6QMF8, Q6UB99
      Related
      ENSP00000301030.4, ENST00000301030.10
      Conserved Domains (4) summary
      cd00204
      Location:162 → 284
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      pfam12796
      Location:172 → 264
      Ank_2; Ankyrin repeats (3 copies)
      pfam13476
      Location:656 → 768
      AAA_23; AAA domain
      sd00045
      Location:167 → 198
      ANK; ANK repeat [structural motif]

    RNA

    1. NR_045839.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC137932, AY373756, BC041059
      Related
      ENST00000378332.7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      89267630..89490561 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      95347957..95571214 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UB99.3 GenPept UniProtKB/Swiss-Prot:Q6UB99

    Gene LinkOut

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