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

    Gene ID: 23253, updated on 3-Nov-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
    mouse all
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    Genomic context

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    See ANKRD12 in Genome Data Viewer
    Location:
    18p11.22
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (9136781..9285985)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (9299170..9449185)
    RS_2024_09 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 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?
    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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    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_2024_08

    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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