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 sp... See more...

Aliases for ANKRD12 Gene

Aliases for ANKRD12 Gene

  • Ankyrin Repeat Domain 12 2 3 5
  • Ankyrin Repeat Domain-Containing Protein 12 3 4
  • Ankyrin Repeat-Containing Cofactor 2 3 4
  • GAC-1 Protein 4
  • Nbla00144 3
  • KIAA0874 4
  • ANCO-2 3
  • ANCO1 3
  • GAC-1 3
  • ANCO2 4

External Ids for ANKRD12 Gene

Previous GeneCards Identifiers for ANKRD12 Gene

  • GC18P009172
  • GC18P009126

Summaries for ANKRD12 Gene

Entrez Gene Summary for ANKRD12 Gene

  • 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]

GeneCards Summary for ANKRD12 Gene

ANKRD12 (Ankyrin Repeat Domain 12) is a Protein Coding gene. Diseases associated with ANKRD12 include Mitochondrial Complex I Deficiency, Nuclear Type 1.

UniProtKB/Swiss-Prot Summary for ANKRD12 Gene

  • May recruit HDACs to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation.

Additional gene information for ANKRD12 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKRD12 Gene

Genomics for ANKRD12 Gene

GeneHancer (GH) Regulatory Elements for ANKRD12 Gene

Promoters and enhancers for ANKRD12 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKRD12 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKRD12

Top Transcription factor binding sites by QIAGEN in the ANKRD12 gene promoter:
  • AML1a
  • c-Myb
  • COMP1
  • HEN1
  • IRF-2
  • N-Myc
  • Oct-B1
  • Pbx1a
  • Roaz
  • XBP-1

Genomic Locations for ANKRD12 Gene

Genomic Locations for ANKRD12 Gene
chr18:9,136,228-9,285,985
(GRCh38/hg38)
Size:
149,758 bases
Orientation:
Plus strand
chr18:9,136,226-9,285,983
(GRCh37/hg19)
Size:
149,758 bases
Orientation:
Plus strand

Genomic View for ANKRD12 Gene

Genes around ANKRD12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD12 Gene

Proteins for ANKRD12 Gene

  • Protein details for ANKRD12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UB98-ANR12_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 12
    Protein Accession:
    Q6UB98
    Secondary Accessions:
    • O94951
    • Q658K1
    • Q6QMF7
    • Q9H231
    • Q9H784

    Protein attributes for ANKRD12 Gene

    Size:
    2062 amino acids
    Molecular mass:
    235652 Da
    Quaternary structure:
    • Interacts with the PAS region of the p160 coactivators.
    SequenceCaution:
    • Sequence=BAB15014.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for ANKRD12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKRD12 Gene

Post-translational modifications for ANKRD12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ANKRD12 Gene

Domains & Families for ANKRD12 Gene

Gene Families for ANKRD12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for ANKRD12 Gene

Blocks:
  • Ankyrin repeat signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ANKRD12 Gene

GenScript: Design optimal peptide antigens:
  • GAC-1 protein (ANR12_HUMAN)
  • ANKRD12 protein (Q6NSE1_HUMAN)
genes like me logo Genes that share domains with ANKRD12: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ANKRD12 Gene

Function for ANKRD12 Gene

Molecular function for ANKRD12 Gene

UniProtKB/Swiss-Prot Function:
May recruit HDACs to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation.

Phenotypes From GWAS Catalog for ANKRD12 Gene

genes like me logo Genes that share phenotypes with ANKRD12: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKRD12 Gene

Localization for ANKRD12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKRD12 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANKRD12 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANKRD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with ANKRD12: view

Pathways & Interactions for ANKRD12 Gene

PathCards logo

SuperPathways for ANKRD12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD12 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ANKRD12 Gene

Drugs & Compounds for ANKRD12 Gene

No Compound Related Data Available

Transcripts for ANKRD12 Gene

mRNA/cDNA for ANKRD12 Gene

3 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD12 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: -
SP2:
SP3:

Relevant External Links for ANKRD12 Gene

GeneLoc Exon Structure for
ANKRD12

Expression for ANKRD12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANKRD12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ANKRD12 Gene

This gene is overexpressed in Liver (28.8), Fetal Brain (9.4), and Platelet (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANKRD12 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANKRD12

SOURCE GeneReport for Unigene cluster for ANKRD12 Gene:

Hs.464585

Evidence on tissue expression from TISSUES for ANKRD12 Gene

  • Nervous system(4.5)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with ANKRD12: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD12 Gene

Orthologs for ANKRD12 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKRD12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKRD12 31 30
  • 99.29 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANKRD12 31 30
  • 91.12 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANKRD12 31 30
  • 88.95 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ankrd12 17 31 30
  • 84.17 (n)
rat
(Rattus norvegicus)
Mammalia Ankrd12 30
  • 82.62 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKRD12 31
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD12 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKRD12 31 30
  • 73.45 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKRD12 31
  • 65 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ankrd12 31
  • 48 (a)
OneToOne
wufi16c02 30
fruit fly
(Drosophila melanogaster)
Insecta CG10984 31
  • 29 (a)
OneToMany
Species where no ortholog for ANKRD12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ANKRD12 Gene

ENSEMBL:
Gene Tree for ANKRD12 (if available)
TreeFam:
Gene Tree for ANKRD12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANKRD12: view image

Paralogs for ANKRD12 Gene

(23) SIMAP similar genes for ANKRD12 Gene using alignment to 8 proteins:

  • ANR12_HUMAN
  • B5MEA4_HUMAN
  • F5GYX2_HUMAN
  • J3KS53_HUMAN
  • J3KSU9_HUMAN
  • J3QRX3_HUMAN
  • Q6NSE1_HUMAN
  • Q6PG48_HUMAN
genes like me logo Genes that share paralogs with ANKRD12: view

No data available for Paralogs for ANKRD12 Gene

Variants for ANKRD12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANKRD12 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs864622035 Uncertain Significance: Malignant tumor of prostate 9,255,860(+) G/T MISSENSE_VARIANT
rs17498752 - p.Thr507Ile
rs2298546 - p.Ser818Asn
rs2298548 - p.Pro277Ala
rs34996750 - p.Leu998Ser

Additional dbSNP identifiers (rs#s) for ANKRD12 Gene

Structural Variations from Database of Genomic Variants (DGV) for ANKRD12 Gene

Variant ID Type Subtype PubMed ID
dgv187n21 CNV loss 19592680
dgv54n6 CNV deletion 16902084
dgv5846n54 CNV loss 21841781
dgv5847n54 CNV loss 21841781
dgv5848n54 CNV loss 21841781
esv1009496 CNV deletion 20482838
esv1632576 CNV insertion 17803354
esv2657711 CNV deletion 23128226
esv2664033 CNV deletion 23128226
esv2676874 CNV deletion 23128226
esv2716768 CNV deletion 23290073
esv28200 CNV loss 19812545
esv3372 CNV loss 18987735
esv3555028 CNV deletion 23714750
esv3555029 CNV deletion 23714750
esv3555030 CNV deletion 23714750
esv3555031 CNV deletion 23714750
esv3641734 CNV loss 21293372
esv3641737 CNV loss 21293372
esv3641738 CNV loss 21293372
esv3641739 CNV loss 21293372
esv8562 CNV loss 19470904
nsv1056407 CNV gain 25217958
nsv1071829 CNV deletion 25765185
nsv1118781 CNV deletion 24896259
nsv1125303 CNV deletion 24896259
nsv1133242 CNV tandem duplication 24896259
nsv1138606 CNV deletion 24896259
nsv1154023 CNV deletion 26484159
nsv131135 CNV deletion 16902084
nsv2201 CNV deletion 18451855
nsv576446 CNV loss 21841781
nsv576447 CNV gain 21841781
nsv828176 CNV loss 20364138

Variation tolerance for ANKRD12 Gene

Residual Variation Intolerance Score: 2.07% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.50; 85.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKRD12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKRD12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD12 Gene

Disorders for ANKRD12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ANKRD12 Gene - From: DISEASES

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency, nuclear type 1
  • mc1dn1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ANKRD12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ANKRD12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANKRD12 Gene

Publications for ANKRD12 Gene

  1. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. Ankyrin repeats-containing cofactors interact with ADA3 and modulate its co-activator function. (PMID: 18377363) Li CW … Chen JD (The Biochemical journal 2008) 3 23 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators. (PMID: 15184363) Zhang A … Chen JD (The Journal of biological chemistry 2004) 3 4 54

Products for ANKRD12 Gene

Sources for ANKRD12 Gene