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

Gene ID: 23253, updated on 5-Aug-2022

Summary

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

See ANKRD12 in Genome Data Viewer
Location:
18p11.22
Exon count:
18
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (9136781..9285985)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (9300230..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 NADH:ubiquinone oxidoreductase core subunit V2 Neighboring gene NDUFV2 antisense RNA 1 Neighboring gene small nucleolar RNA U13 Neighboring gene TWSG1 divergent transcript Neighboring gene twisted gastrulation BMP signaling modulator 1

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001083625.3NP_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:156268
    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:166258
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:161192
    ANK; ANK repeat [structural motif]
  2. NM_001204056.1NP_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:156268
    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:166258
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:161192
    ANK; ANK repeat [structural motif]
  3. NM_015208.5NP_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
    Q6UB98, Q9H784
    Related
    ENSP00000262126.3, ENST00000262126.9
    Conserved Domains (4) summary
    cd00204
    Location:179291
    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:184215
    ANK; ANK repeat [structural motif]
    cl25732
    Location:363983
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26511
    Location:7201165
    Neuromodulin_N; Gap junction protein N-terminal region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_005258093.5XP_005258150.1  ankyrin repeat domain-containing protein 12 isoform X1

    See identical proteins and their annotated locations for XP_005258150.1

    UniProtKB/Swiss-Prot
    Q6UB98, Q9H784
    Conserved Domains (4) summary
    cd00204
    Location:179291
    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:184215
    ANK; ANK repeat [structural motif]
    cl25732
    Location:363983
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26511
    Location:7201165
    Neuromodulin_N; Gap junction protein N-terminal region
  2. XM_017025661.3XP_016881150.1  ankyrin repeat domain-containing protein 12 isoform X2

    Conserved Domains (3) summary
    cd00204
    Location:177289
    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:187279
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:182213
    ANK; ANK repeat [structural motif]
  3. XM_017025663.3XP_016881152.1  ankyrin repeat domain-containing protein 12 isoform X3

    UniProtKB/Swiss-Prot
    Q6UB98
    Conserved Domains (3) summary
    cd00204
    Location:156268
    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:166258
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:161192
    ANK; ANK repeat [structural motif]
  4. XM_017025664.3XP_016881153.1  ankyrin repeat domain-containing protein 12 isoform X4

    Conserved Domains (3) summary
    cd00204
    Location:154266
    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:164256
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:159190
    ANK; ANK repeat [structural motif]
  5. XM_005258095.4XP_005258152.1  ankyrin repeat domain-containing protein 12 isoform X2

    Conserved Domains (3) summary
    cd00204
    Location:177289
    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:187279
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:182213
    ANK; ANK repeat [structural motif]
  6. XM_005258096.4XP_005258153.1  ankyrin repeat domain-containing protein 12 isoform X4

    Conserved Domains (3) summary
    cd00204
    Location:154266
    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:164256
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:159190
    ANK; ANK repeat [structural motif]
  7. XM_011525638.4XP_011523940.1  ankyrin repeat domain-containing protein 12 isoform X5

    Conserved Domains (3) summary
    cd00204
    Location:179291
    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:189281
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:184215
    ANK; ANK repeat [structural motif]
  8. XM_017025666.3XP_016881155.1  ankyrin repeat domain-containing protein 12 isoform X4

    Conserved Domains (3) summary
    cd00204
    Location:154266
    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:164256
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:159190
    ANK; ANK repeat [structural motif]
  9. XM_047437386.1XP_047293342.1  ankyrin repeat domain-containing protein 12 isoform X1

    UniProtKB/Swiss-Prot
    Q9H784
  10. XM_047437387.1XP_047293343.1  ankyrin repeat domain-containing protein 12 isoform X2

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

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

    UniProtKB/Swiss-Prot
    Q9H784
    Conserved Domains (4) summary
    cd00204
    Location:179291
    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:184215
    ANK; ANK repeat [structural motif]
    cl25732
    Location:363983
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26511
    Location:7201165
    Neuromodulin_N; Gap junction protein N-terminal region
  13. XM_047437391.1XP_047293347.1  ankyrin repeat domain-containing protein 12 isoform X4

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

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

    Conserved Domains (3) summary
    cd00204
    Location:177289
    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:187279
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:182213
    ANK; ANK repeat [structural motif]
  16. XM_047437385.1XP_047293341.1  ankyrin repeat domain-containing protein 12 isoform X1

    UniProtKB/Swiss-Prot
    Q9H784
  17. XM_047437389.1XP_047293345.1  ankyrin repeat domain-containing protein 12 isoform X3

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

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

    Conserved Domains (2) summary
    cl25732
    Location:70690
    SMC_N; RecF/RecN/SMC N terminal domain
    cl26511
    Location:427872
    Neuromodulin_N; Gap junction protein N-terminal region

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    9300230..9449185
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)