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ANKRD12 ankyrin repeat domain 12 [ Homo sapiens (human) ]

Gene ID: 23253, updated on 5-Mar-2024

Summary

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Official Symbol
ANKRD12provided by HGNC
Official Full Name
ankyrin repeat domain 12provided by HGNC
Primary source
HGNC:HGNC:29135
See related
Ensembl:ENSG00000101745 MIM:610616; AllianceGenome:HGNC:29135
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
ANCO1; GAC-1; ANCO-2; Nbla00144
Summary
This gene encodes a member of the ankyrin repeats-containing cofactor family. These proteins may inhibit the transcriptional activity of nuclear receptors through the recruitment of histone deacetylases. The encoded protein interacts with p160 coactivators and also represses transcription mediated by the coactivator alteration/deficiency in activation 3 (ADA3). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
Expression
Ubiquitous expression in lymph node (RPKM 9.0), appendix (RPKM 8.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
18p11.22
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (9136781..9285985)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (9299170..9449185)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (9136779..9285983)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13067 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13069 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9277 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:9103057-9103766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13070 Neighboring gene NADH:ubiquinone oxidoreductase core subunit V2 Neighboring gene NDUFV2 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:9135881-9136054 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9279 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9278 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9280 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9281 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:9264498-9265100 Neighboring gene small nucleolar RNA U13 Neighboring gene TWSG1 divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:9335059-9335559 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50729 Neighboring gene twisted gastrulation BMP signaling modulator 1

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
  • 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. Silencing of ANKRD12 circRNA induces molecular and functional changes associated with invasive phenotypes. Karedath T, et al. BMC Cancer, 2019 Jun 11. PMID 31185953, Free PMC Article
  2. Clinical significance of Ankyrin repeat domain 12 expression in colorectal cancer. Bai R, et al. J Exp Clin Cancer Res, 2013 May 29. PMID 23718802, Free PMC Article
  3. Ankyrin repeats-containing cofactors interact with ADA3 and modulate its co-activator function. Li CW, et al. Biochem J, 2008 Jul 15. PMID 18377363
  4. Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators. Zhang A, et al. J Biol Chem, 2004 Aug 6. PMID 15184363
  5. Identification of novel ARF binding proteins by two-hybrid screening. Tompkins V, et al. Cell Cycle, 2006 Mar. PMID 16582619

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. These results suggest that circANKRD12 could be involved in a diverse set of functions ranging from cell cycle arrest, tumor invasion to immune modulation. Manipulating the levels of circANKRD12 can regulate molecular functions by altering different signaling pathways and modifies the phenotype of the cells.
    Title: Silencing of ANKRD12 circRNA induces molecular and functional changes associated with invasive phenotypes.
  2. Study revealed that ANKRD12 mRNA were down regulated in CRC tumor tissues and low ANKRD12 expression was correlated with liver metastasis and poor survival of CRC patients.
    Title: Clinical significance of Ankyrin repeat domain 12 expression in colorectal cancer.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  4. ADA3 is a newly identified target of the ANCO proteins, which may modulate co-activator function in a transcription-factor-specific manner
    Title: Ankyrin repeats-containing cofactors interact with ADA3 and modulate its co-activator function.
Submit: New GeneRIF Correction

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

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

Clone Names

  • FLJ20053, KIAA0874

Gene Ontology Provided by GOA

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
  

General protein information

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Preferred Names
ankyrin repeat domain-containing protein 12
Names
ankyrin repeat-containing cofactor 2
ankyrin repeats containing cofactor 2

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_047134.1 RefSeqGene

    Range
    5029..154233
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001083625.3 → NP_001077094.1  ankyrin repeat domain-containing protein 12 isoform 2

    See identical proteins and their annotated locations for NP_001077094.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    AL834204, AP001033, AY533564, BM992146, BP230422
    Consensus CDS
    CCDS42411.1
    UniProtKB/Swiss-Prot
    Q6UB98
    Conserved Domains (3) summary
    cd00204
    Location:156 → 268
    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:166 → 258
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:161 → 192
    ANK; ANK repeat [structural motif]

  2. NM_001204056.1 → NP_001190985.1  ankyrin repeat domain-containing protein 12 isoform 2

    See identical proteins and their annotated locations for NP_001190985.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    AP001033, AP005263, AY533564, BM992146
    Consensus CDS
    CCDS42411.1
    UniProtKB/Swiss-Prot
    Q6UB98
    Related
    ENSP00000382897.3, ENST00000400020.7
    Conserved Domains (3) summary
    cd00204
    Location:156 → 268
    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:166 → 258
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:161 → 192
    ANK; ANK repeat [structural motif]

  3. NM_015208.5 → NP_056023.3  ankyrin repeat domain-containing protein 12 isoform 1

    See identical proteins and their annotated locations for NP_056023.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AP001033, AY373757, AY533564, BM992146, BP230422
    Consensus CDS
    CCDS11843.1
    UniProtKB/Swiss-Prot
    O94951, Q658K1, Q6QMF7, Q6UB98, Q9H231, Q9H784
    Related
    ENSP00000262126.3, ENST00000262126.9
    Conserved Domains (4) summary
    cd00204
    Location:179 → 291
    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 ...
    sd00045
    Location:184 → 215
    ANK; ANK repeat [structural motif]
    cl25732
    Location:363 → 983
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26511
    Location:720 → 1165
    Neuromodulin_N; Gap junction protein N-terminal region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    9136781..9285985
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005258093.5 → XP_005258150.1  ankyrin repeat domain-containing protein 12 isoform X1

    See identical proteins and their annotated locations for XP_005258150.1

    UniProtKB/Swiss-Prot
    O94951, Q658K1, Q6QMF7, Q6UB98, Q9H231, Q9H784
    Conserved Domains (4) summary
    cd00204
    Location:179 → 291
    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 ...
    sd00045
    Location:184 → 215
    ANK; ANK repeat [structural motif]
    cl25732
    Location:363 → 983
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26511
    Location:720 → 1165
    Neuromodulin_N; Gap junction protein N-terminal region

  2. XM_017025661.3 → XP_016881150.1  ankyrin repeat domain-containing protein 12 isoform X2

    Conserved Domains (3) summary
    cd00204
    Location:177 → 289
    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:187 → 279
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:182 → 213
    ANK; ANK repeat [structural motif]

  3. XM_017025663.3 → XP_016881152.1  ankyrin repeat domain-containing protein 12 isoform X3

    UniProtKB/Swiss-Prot
    Q6UB98
    Conserved Domains (3) summary
    cd00204
    Location:156 → 268
    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:166 → 258
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:161 → 192
    ANK; ANK repeat [structural motif]

  4. XM_017025664.3 → XP_016881153.1  ankyrin repeat domain-containing protein 12 isoform X4

    Conserved Domains (3) summary
    cd00204
    Location:154 → 266
    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:164 → 256
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:159 → 190
    ANK; ANK repeat [structural motif]

  5. XM_005258095.4 → XP_005258152.1  ankyrin repeat domain-containing protein 12 isoform X2

    Conserved Domains (3) summary
    cd00204
    Location:177 → 289
    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:187 → 279
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:182 → 213
    ANK; ANK repeat [structural motif]

  6. XM_005258096.4 → XP_005258153.1  ankyrin repeat domain-containing protein 12 isoform X4

    Conserved Domains (3) summary
    cd00204
    Location:154 → 266
    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:164 → 256
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:159 → 190
    ANK; ANK repeat [structural motif]

  7. XM_011525638.4 → XP_011523940.1  ankyrin repeat domain-containing protein 12 isoform X5

    Conserved Domains (3) summary
    cd00204
    Location:179 → 291
    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:189 → 281
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:184 → 215
    ANK; ANK repeat [structural motif]

  8. XM_017025666.3 → XP_016881155.1  ankyrin repeat domain-containing protein 12 isoform X4

    Conserved Domains (3) summary
    cd00204
    Location:154 → 266
    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:164 → 256
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:159 → 190
    ANK; ANK repeat [structural motif]

  9. XM_047437386.1 → XP_047293342.1  ankyrin repeat domain-containing protein 12 isoform X1

    UniProtKB/Swiss-Prot
    O94951, Q658K1, Q6QMF7, Q6UB98, Q9H231, Q9H784

  10. XM_047437387.1 → XP_047293343.1  ankyrin repeat domain-containing protein 12 isoform X2

  11. XM_047437390.1 → XP_047293346.1  ankyrin repeat domain-containing protein 12 isoform X3

  12. XM_024451107.2 → XP_024306875.1  ankyrin repeat domain-containing protein 12 isoform X1

    UniProtKB/Swiss-Prot
    O94951, Q658K1, Q6QMF7, Q6UB98, Q9H231, Q9H784
    Conserved Domains (4) summary
    cd00204
    Location:179 → 291
    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 ...
    sd00045
    Location:184 → 215
    ANK; ANK repeat [structural motif]
    cl25732
    Location:363 → 983
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26511
    Location:720 → 1165
    Neuromodulin_N; Gap junction protein N-terminal region

  13. XM_047437391.1 → XP_047293347.1  ankyrin repeat domain-containing protein 12 isoform X4

  14. XM_047437388.1 → XP_047293344.1  ankyrin repeat domain-containing protein 12 isoform X3

  15. XM_017025662.3 → XP_016881151.1  ankyrin repeat domain-containing protein 12 isoform X2

    Conserved Domains (3) summary
    cd00204
    Location:177 → 289
    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:187 → 279
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:182 → 213
    ANK; ANK repeat [structural motif]

  16. XM_047437385.1 → XP_047293341.1  ankyrin repeat domain-containing protein 12 isoform X1

    UniProtKB/Swiss-Prot
    O94951, Q658K1, Q6QMF7, Q6UB98, Q9H231, Q9H784

  17. XM_047437389.1 → XP_047293345.1  ankyrin repeat domain-containing protein 12 isoform X3

  18. XM_047437392.1 → XP_047293348.1  ankyrin repeat domain-containing protein 12 isoform X6

  19. XM_017025669.3 → XP_016881158.1  ankyrin repeat domain-containing protein 12 isoform X6

    Conserved Domains (2) summary
    cl25732
    Location:70 → 690
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26511
    Location:427 → 872
    Neuromodulin_N; Gap junction protein N-terminal region

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    9299170..9449185
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318350.1 → XP_054174325.1  ankyrin repeat domain-containing protein 12 isoform X4

  2. XM_054318345.1 → XP_054174320.1  ankyrin repeat domain-containing protein 12 isoform X3

  3. XM_054318336.1 → XP_054174311.1  ankyrin repeat domain-containing protein 12 isoform X1

  4. XM_054318342.1 → XP_054174317.1  ankyrin repeat domain-containing protein 12 isoform X2

  5. XM_054318341.1 → XP_054174316.1  ankyrin repeat domain-containing protein 12 isoform X2

  6. XM_054318349.1 → XP_054174324.1  ankyrin repeat domain-containing protein 12 isoform X4

  7. XM_054318353.1 → XP_054174328.1  ankyrin repeat domain-containing protein 12 isoform X5

  8. XM_054318352.1 → XP_054174327.1  ankyrin repeat domain-containing protein 12 isoform X4

  9. XM_054318340.1 → XP_054174315.1  ankyrin repeat domain-containing protein 12 isoform X1

  10. XM_054318344.1 → XP_054174319.1  ankyrin repeat domain-containing protein 12 isoform X2

  11. XM_054318348.1 → XP_054174323.1  ankyrin repeat domain-containing protein 12 isoform X3

  12. XM_054318338.1 → XP_054174313.1  ankyrin repeat domain-containing protein 12 isoform X1

  13. XM_054318351.1 → XP_054174326.1  ankyrin repeat domain-containing protein 12 isoform X4

  14. XM_054318346.1 → XP_054174321.1  ankyrin repeat domain-containing protein 12 isoform X3

  15. XM_054318337.1 → XP_054174312.1  ankyrin repeat domain-containing protein 12 isoform X1

  16. XM_054318343.1 → XP_054174318.1  ankyrin repeat domain-containing protein 12 isoform X2

  17. XM_054318339.1 → XP_054174314.1  ankyrin repeat domain-containing protein 12 isoform X1

  18. XM_054318347.1 → XP_054174322.1  ankyrin repeat domain-containing protein 12 isoform X3

  19. XM_054318354.1 → XP_054174329.1  ankyrin repeat domain-containing protein 12 isoform X6

  20. XM_054318355.1 → XP_054174330.1  ankyrin repeat domain-containing protein 12 isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6UB98.3 GenPept UniProtKB/Swiss-Prot:Q6UB98

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