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

Summary

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

Location:: 16q24.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (89267630..89490561, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (95347957..95571214, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (89334038..89556969, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.
Title: Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.
[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].
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.
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.
[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].
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.
ANKRD11 variants: KBG syndrome and beyond.
Title: ANKRD11 variants: KBG syndrome and beyond.

Submit: New GeneRIF Correction See all GeneRIFs (37)

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&gt;A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

HSC05E102 (e-PCR)
- UniSTS:51714

SHGC-60644 (e-PCR)
- UniSTS:61461

SHGC-132354 (e-PCR)
- UniSTS:170789

SHGC-64125 (e-PCR)
- UniSTS:69930

ANKRD11_9583 (e-PCR)
- UniSTS:468278

RH103278 (e-PCR)
- UniSTS:97610

D16S3121 (e-PCR)
- UniSTS:28522

SHGC-146447 (e-PCR)
- UniSTS:175222

RH65545 (e-PCR)
- UniSTS:82049

SHGC-60547 (e-PCR)
- UniSTS:78982

SHGC-149926 (e-PCR)
- UniSTS:177310

RH80169 (e-PCR)
- UniSTS:85925

SHGC-145765 (e-PCR)
- UniSTS:174777

SHGC-148326 (e-PCR)
- UniSTS:176326

D16S3026 (e-PCR), detects polymorphism
- UniSTS:37072

G59238 (e-PCR)
- UniSTS:136411

RH69658 (e-PCR)
- UniSTS:74233

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

NG_032003.2 RefSeqGene

Range

5001..227932

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]
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, ENST00000642600.1

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]
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

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