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Aliases for ANKRD30A Gene

Aliases for ANKRD30A Gene

  • Ankyrin Repeat Domain 30A 2 3 5
  • Serologically Defined Breast Cancer Antigen NY-BR-1 3 4
  • Ankyrin Repeat Domain-Containing Protein 30A 3
  • Breast Cancer Antigen NY-BR-1 2
  • NY-BR-1 3

External Ids for ANKRD30A Gene

Previous GeneCards Identifiers for ANKRD30A Gene

  • GC10P037419
  • GC10P037454
  • GC10P037414

Summaries for ANKRD30A Gene

Entrez Gene Summary for ANKRD30A Gene

  • This gene encodes a DNA-binding transcription factor that is uniquely expressed in mammary epithelium and the testis. Altered expression levels have been associated with breast cancer progression. [provided by RefSeq, Nov 2016]

GeneCards Summary for ANKRD30A Gene

ANKRD30A (Ankyrin Repeat Domain 30A) is a Protein Coding gene. Diseases associated with ANKRD30A include Breast Cancer. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity. An important paralog of this gene is ANKRD30B.

Additional gene information for ANKRD30A Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKRD30A Gene

Genomics for ANKRD30A Gene

GeneHancer (GH) Regulatory Elements for ANKRD30A Gene

Promoters and enhancers for ANKRD30A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J037306 Enhancer 0.3 FANTOM5 7.9 +181.4 181372 0.3 LOC101929498 ANKRD30A TMEM161BP1 LINC00993
GH10J037082 Enhancer 0.2 FANTOM5 0.3 -42.8 -42810 0.3 ANKRD30A ARL6IP1P2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ANKRD30A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKRD30A gene promoter:
  • FOXD1
  • Sox5
  • Nkx2-2
  • COMP1
  • POU2F1a
  • POU2F1
  • HNF-1
  • HNF-1A
  • Pax-6
  • Pbx1a

Genomic Locations for ANKRD30A Gene

Genomic Locations for ANKRD30A Gene
258,370 bases
Plus strand
258,255 bases
Plus strand

Genomic View for ANKRD30A Gene

Genes around ANKRD30A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD30A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD30A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD30A Gene

Proteins for ANKRD30A Gene

  • Protein details for ANKRD30A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ankyrin repeat domain-containing protein 30A
    Protein Accession:
    Secondary Accessions:
    • Q5W025

    Protein attributes for ANKRD30A Gene

    1397 amino acids
    Molecular mass:
    158835 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAK27325.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH71320.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI16567.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for ANKRD30A Gene

Post-translational modifications for ANKRD30A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKRD30A Gene

No data available for DME Specific Peptides for ANKRD30A Gene

Domains & Families for ANKRD30A Gene

Gene Families for ANKRD30A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ANKRD30A Gene

Suggested Antigen Peptide Sequences for ANKRD30A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ANKRD30A: view

No data available for UniProtKB/Swiss-Prot for ANKRD30A Gene

Function for ANKRD30A Gene

Phenotypes From GWAS Catalog for ANKRD30A Gene

Gene Ontology (GO) - Molecular Function for ANKRD30A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS 11280766
GO:0003700 DNA binding transcription factor activity NAS 11280766
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ANKRD30A: view
genes like me logo Genes that share phenotypes with ANKRD30A: view

Animal Model Products

CRISPR Products

miRNA for ANKRD30A Gene

miRTarBase miRNAs that target ANKRD30A

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKRD30A

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKRD30A Gene

Localization for ANKRD30A Gene

Subcellular locations from

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 ANKRD30A gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ANKRD30A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 11280766
genes like me logo Genes that share ontologies with ANKRD30A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ANKRD30A Gene

Pathways & Interactions for ANKRD30A Gene

SuperPathways for ANKRD30A Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD30A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated NAS 11280766
genes like me logo Genes that share ontologies with ANKRD30A: view

No data available for Pathways by source and SIGNOR curated interactions for ANKRD30A Gene

Drugs & Compounds for ANKRD30A Gene

No Compound Related Data Available

Transcripts for ANKRD30A Gene

mRNA/cDNA for ANKRD30A Gene

(4) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ANKRD30A Gene

Ankyrin repeat domain 30A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKRD30A

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD30A Gene

No ASD Table

Relevant External Links for ANKRD30A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ANKRD30A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANKRD30A Gene

mRNA differential expression in normal tissues according to GTEx for ANKRD30A Gene

This gene is overexpressed in Breast - Mammary Tissue (x46.3) and Testis (x5.0).

Protein differential expression in normal tissues from HIPED for ANKRD30A Gene

This gene is overexpressed in Serum (46.8) and Platelet (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANKRD30A Gene

Protein tissue co-expression partners for ANKRD30A Gene

NURSA nuclear receptor signaling pathways regulating expression of ANKRD30A Gene:


SOURCE GeneReport for Unigene cluster for ANKRD30A Gene:


mRNA Expression by UniProt/SwissProt for ANKRD30A Gene:

Tissue specificity: Mainly expressed in breast and testis. A very faint signal is detected in placenta. Also expressed in many breast cancer cells.

Evidence on tissue expression from TISSUES for ANKRD30A Gene

  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with ANKRD30A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD30A Gene

Orthologs for ANKRD30A Gene

This gene was present in the common ancestor of chordates.

Orthologs for ANKRD30A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ANKRD30A 34 33
  • 98.41 (n)
(Bos Taurus)
Mammalia -- 34
  • 43 (a)
(Canis familiaris)
Mammalia -- 34
  • 34 (a)
-- 34
  • 32 (a)
-- 34
  • 32 (a)
-- 34
  • 32 (a)
-- 34
  • 22 (a)
-- 34
  • 18 (a)
-- 34
  • 16 (a)
-- 34
  • 16 (a)
(Mus musculus)
Mammalia 4931423N10Rik 34
  • 23 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 14 (a)
(Gallus gallus)
Aves -- 34
  • 19 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 31 (a)
(Danio rerio)
Actinopterygii ANKRD7 34
  • 11 (a)
Species where no ortholog for ANKRD30A 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 ANKRD30A Gene

Gene Tree for ANKRD30A (if available)
Gene Tree for ANKRD30A (if available)
Evolutionary constrained regions (ECRs) for ANKRD30A: view image

Paralogs for ANKRD30A Gene

(7) SIMAP similar genes for ANKRD30A Gene using alignment to 3 proteins:

  • Q5W026_HUMAN
  • R4GNA2_HUMAN Pseudogenes for ANKRD30A Gene

genes like me logo Genes that share paralogs with ANKRD30A: view

Variants for ANKRD30A Gene

Sequence variations from dbSNP and Humsavar for ANKRD30A Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs763931520 uncertain-significance, Familial cancer of breast 37,219,651(+) TG/ coding_sequence_variant, downstream_transcript_variant, frameshift, genic_downstream_transcript_variant, non_coding_transcript_variant
VAR_035611 A breast cancer sample p.Gln227Glu
rs1000038813 -- 37,156,275(+) T/A genic_upstream_transcript_variant, intron_variant
rs1000110521 -- 37,209,949(+) T/C intron_variant
rs1000114372 -- 37,165,164(+) T/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ANKRD30A Gene

Variant ID Type Subtype PubMed ID
nsv951540 CNV duplication 24416366
nsv947849 CNV duplication 23825009
nsv947848 CNV duplication 23825009
nsv947847 CNV duplication 23825009
nsv947846 CNV duplication 23825009
nsv8616 CNV gain+loss 18304495
nsv831832 CNV gain+loss 17160897
nsv825347 CNV gain 20364138
nsv820758 CNV duplication 20802225
nsv819914 CNV loss 19587683
nsv819536 CNV insertion 19587683
nsv7201 OTHER inversion 18451855
nsv6421 CNV insertion 18451855
nsv6410 CNV insertion 18451855
nsv550418 CNV gain 21841781
nsv550417 CNV gain 21841781
nsv514554 CNV gain 21397061
nsv514553 CNV gain 21397061
nsv509351 CNV insertion 20534489
nsv508577 CNV deletion 20534489
nsv1152612 CNV duplication 26484159
nsv1152077 CNV duplication 26484159
nsv1075813 CNV duplication 25765185
nsv1045454 CNV loss 25217958
esv995125 CNV deletion 20482838
esv3891785 CNV gain 25118596
esv3622953 CNV loss 21293372
esv3622952 CNV gain 21293372
esv3622951 CNV gain 21293372
esv3622950 CNV gain 21293372
esv3622949 CNV gain 21293372
esv3578772 CNV loss 25503493
esv3576405 CNV gain 25503493
esv3400739 CNV duplication 20981092
esv3397511 CNV duplication 20981092
esv3334260 CNV duplication 20981092
esv2759742 CNV gain+loss 17122850
esv2735572 CNV deletion 23290073
esv2735517 CNV deletion 23290073
esv23694 CNV gain+loss 19812545
esv1003057 CNV loss 20482838
dgv401n106 CNV duplication 24896259
dgv398e59 CNV duplication 20981092
dgv397e59 CNV duplication 20981092
dgv206e212 CNV loss 25503493
dgv205e212 CNV loss 25503493
dgv204e212 CNV loss 25503493
dgv203e212 CNV gain 25503493

Variation tolerance for ANKRD30A Gene

Residual Variation Intolerance Score: 89.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.58; 91.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKRD30A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD30A Gene

Disorders for ANKRD30A Gene

MalaCards: The human disease database

(1) MalaCards diseases for ANKRD30A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
breast cancer
  • breast cancer, familial
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ANKRD30A

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ANKRD30A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANKRD30A Gene

Publications for ANKRD30A Gene

  1. Identification of a tissue-specific putative transcription factor in breast tissue by serological screening of a breast cancer library. (PMID: 11280766) Jäger D … Chen YT (Cancer research 2001) 2 3 4 58
  2. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PMID: 18464913) Melzer D … Ferrucci L (PLoS genetics 2008) 3 44 58
  3. Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum. (PMID: 19043545) Gieger C … Suhre K (PLoS genetics 2008) 3 44 58
  4. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PMID: 17903294) Yang Q … O'Donnell CJ (BMC medical genetics 2007) 3 44 58
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 44 58

Products for ANKRD30A Gene

Sources for ANKRD30A Gene

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