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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
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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
Compare labs

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)

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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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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