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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
  • Breast Cancer Antigen NY-BR-1 2 3
  • NY-BR-1 3

External Ids for ANKRD30A Gene

Previous GeneCards Identifiers for ANKRD30A Gene

  • GC10P037419
  • GC10P037454
  • GC10P037414

Summaries for ANKRD30A Gene

GeneCards Summary for ANKRD30A Gene

ANKRD30A (Ankyrin Repeat Domain 30A) is a Protein Coding gene. Diseases associated with ANKRD30A include breast cancer. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is ANKRD18A.

No data available for Entrez Gene 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

Regulatory Elements for ANKRD30A Gene

Genomic Location for ANKRD30A Gene

Chromosome:
10
Start:
37,125,742 bp from pter
End:
37,384,111 bp from pter
Size:
258,370 bases
Orientation:
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:
    Q9BXX3-AN30A_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 30A
    Protein Accession:
    Q9BXX3
    Secondary Accessions:
    • Q5W025

    Protein attributes for ANKRD30A Gene

    Size:
    1397 amino acids
    Molecular mass:
    158835 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

Proteomics data for ANKRD30A Gene at MOPED

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

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

Q9BXX3

UniProtKB/Swiss-Prot:

AN30A_HUMAN :
  • Contains 6 ANK repeats.
Similarity:
  • Contains 6 ANK repeats.
genes like me logo Genes that share domains with ANKRD30A: view

Function 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: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

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

COMPARTMENTS
Jensen Localization Image for ANKRD30A Gene COMPARTMENTS Subcellular localization image for ANKRD30A gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ANKRD30A Gene

Pathways & Interactions for ANKRD30A Gene

SuperPathways for ANKRD30A Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD30A Gene

None

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

(3) 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:

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

No ASD Table

Relevant External Links for ANKRD30A Gene

GeneLoc Exon Structure for
ANKRD30A
ECgene alternative splicing isoforms for
ANKRD30A

Expression for ANKRD30A Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for ANKRD30A Gene



SOURCE GeneReport for Unigene cluster for ANKRD30A Gene Hs.373787

mRNA Expression by UniProt/SwissProt for ANKRD30A Gene

Q9BXX3-AN30A_HUMAN
Tissue specificity: Mainly expressed in breast and testis. A very faint signal is detected in placenta. Also expressed in many breast cancer cells.
genes like me logo Genes that share expression patterns with ANKRD30A: view

Protein tissue co-expression partners for ANKRD30A Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
chimpanzee
(Pan troglodytes)
Mammalia ANKRD30A 35
  • 98.41 (n)
  • 96.49 (a)
ANKRD30A 36
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 43 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 16 (a)
ManyToMany
-- 36
  • 34 (a)
ManyToMany
-- 36
  • 16 (a)
ManyToMany
-- 36
  • 18 (a)
ManyToMany
-- 36
  • 22 (a)
ManyToMany
-- 36
  • 32 (a)
ManyToMany
-- 36
  • 32 (a)
ManyToMany
-- 36
  • 32 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia 4931423N10Rik 36
  • 23 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 14 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 36
  • 19 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 31 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii ANKRD7 36
  • 11 (a)
OneToMany
Species with no ortholog for ANKRD30A:
  • 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

ENSEMBL:
Gene Tree for ANKRD30A (if available)
TreeFam:
Gene Tree for ANKRD30A (if available)

Paralogs for ANKRD30A Gene

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

Pseudogenes.org 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 Sequence Context AA Info Type
rs16937417 - 37,158,517(+) AGGCT(A/C/G)CCTGC nc-transcript-variant, reference, missense
rs1209750 - 37,199,761(+) AAGAA(A/C/G)GTTGA nc-transcript-variant, reference, missense
VAR_035611 A breast cancer sample
rs1200875 - 37,216,264(-) TGTAC(A/G)TTGTT nc-transcript-variant, reference, missense
rs1148257 -- 37,152,144(-) TTAAA(A/C)AAAAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv895021 CNV Loss 21882294
esv2735517 CNV Deletion 23290073
dgv243e1 CNV Complex 17122850
nsv7201 OTHER Inversion 18451855
nsv831832 CNV Gain+Loss 17160897
nsv895028 CNV Loss 21882294
nsv509351 CNV Insertion 20534489
nsv895029 CNV Gain 21882294
esv2735572 CNV Deletion 23290073
nsv825347 CNV Gain 20364138
esv23694 CNV Gain+Loss 19812545
nsv8616 CNV Gain+Loss 18304495
nsv6410 CNV Insertion 18451855
esv1003057 CNV Loss 20482838
nsv820758 CNV Duplication 20802225
nsv819536 CNV Insertion 19587683
esv995125 CNV Deletion 20482838
nsv514553 CNV Complex 21397061
nsv508577 CNV Loss 20534489
nsv6421 CNV Insertion 18451855
nsv514554 CNV Complex 21397061
nsv819914 CNV Loss 19587683

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)

Relevant External Links for ANKRD30A Gene

HapMap Linkage Disequilibrium report
ANKRD30A

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, invasive ductal
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ANKRD30A

Genetic Association Database (GAD)
ANKRD30A
Human Genome Epidemiology (HuGE) Navigator
ANKRD30A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKRD30A
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) Jaeger D. … Chen Y.-T. (Cancer Res. 2001) 2 3 4 67
  2. NY-BR-1 Antigen Expression and anti-NY-BR-1 IgG in Egyptian Breast Cancer Patients: Clinicopathological and Prognostic Significance. (PMID: 26415367) Abu El-Nazar S.Y. … Abouelella A.M. (Egypt J Immunol 2015) 3
  3. Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women. (PMID: 25134534) Chen K. … Wei Q. (Nat Commun 2014) 3
  4. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PMID: 23314748) Nathan J.A. … Goldberg A.L. (EMBO J. 2013) 3
  5. Cancer testis antigens and NY-BR-1 expression in primary breast cancer: prognostic and therapeutic implications. (PMID: 23731661) Balafoutas D. … Stickeler E. (BMC Cancer 2013) 3

Products for ANKRD30A Gene

Sources for ANKRD30A Gene

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