Aliases for ANKRD30B Gene

Aliases for ANKRD30B Gene

  • Ankyrin Repeat Domain 30B 2 3 5
  • Serologically Defined Breast Cancer Antigen NY-BR-1.1 3 4
  • Ankyrin Repeat Domain-Containing Protein 30B 3 4
  • NY-BR-1.1 2 3
  • ANKRD30B 5

External Ids for ANKRD30B Gene

Previous GeneCards Identifiers for ANKRD30B Gene

  • GC18U900189

Summaries for ANKRD30B Gene

GeneCards Summary for ANKRD30B Gene

ANKRD30B (Ankyrin Repeat Domain 30B) is a Protein Coding gene. An important paralog of this gene is ANKRD30A.

Additional gene information for ANKRD30B Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKRD30B Gene

Genomics for ANKRD30B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ANKRD30B 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
GH18J014748 Promoter 0.8 EPDnew Ensembl 600.4 +20.1 20109 0.4 EZH2 LOC105372007 ANKRD30B RF00026-469 RNU6-1210P
GH18J014827 Enhancer 0.5 Ensembl 4.9 +100.0 100028 1.8 CREB1 ATF7 CTCF ZNF189 ATF2 SP3 MIR3156-2 ANKRD30B ENSG00000265737
GH18J014777 Enhancer 0.2 Ensembl 5.1 +49.5 49529 1.2 ANKRD30B LOC105372008 piR-41525-302
GH18J014768 Enhancer 0.4 Ensembl 0.3 +40.1 40129 0.8 NFE2 FOSL1 CEBPG LOC105372008 ENSG00000263618 RNU6-1210P RF00026-469 ANKRD30B
GH18J014798 Enhancer 0.3 ENCODE 0.2 +70.3 70315 0.1 CTBP1 GATA3 piR-61580-290 piR-37026-289 ANKRD30B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKRD30B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKRD30B

Top Transcription factor binding sites by QIAGEN in the ANKRD30B gene promoter:
  • AML1a
  • HNF-1
  • HNF-1A
  • IRF-1
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Nkx2-2

Genomic Locations for ANKRD30B Gene

Genomic Locations for ANKRD30B Gene
127,194 bases
Plus strand
124,467 bases
Plus strand

Genomic View for ANKRD30B Gene

Genes around ANKRD30B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD30B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD30B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD30B Gene

Proteins for ANKRD30B Gene

  • Protein details for ANKRD30B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ankyrin repeat domain-containing protein 30B
    Protein Accession:
    Secondary Accessions:
    • B4DGP1
    • F8WAG3
    • Q4G175

    Protein attributes for ANKRD30B Gene

    1392 amino acids
    Molecular mass:
    158049 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAK27326.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAK27326.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAG57852.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for ANKRD30B Gene


neXtProt entry for ANKRD30B Gene

Post-translational modifications for ANKRD30B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKRD30B Gene

No data available for DME Specific Peptides for ANKRD30B Gene

Domains & Families for ANKRD30B Gene

Gene Families for ANKRD30B Gene

Protein Domains for ANKRD30B Gene

Suggested Antigen Peptide Sequences for ANKRD30B Gene

GenScript: Design optimal peptide antigens:
  • Serologically defined breast cancer antigen NY-BR-1.1 (AN30B_HUMAN)
genes like me logo Genes that share domains with ANKRD30B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ANKRD30B Gene

Function for ANKRD30B Gene

Phenotypes From GWAS Catalog for ANKRD30B Gene

Gene Ontology (GO) - Molecular Function for ANKRD30B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ANKRD30B: view

Phenotypes for ANKRD30B Gene

GenomeRNAi human phenotypes for ANKRD30B:
genes like me logo Genes that share phenotypes with ANKRD30B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKRD30B

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ANKRD30B Gene

Localization for ANKRD30B 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 ANKRD30B gene
Compartment Confidence
nucleus 3
cytosol 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ANKRD30B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with ANKRD30B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ANKRD30B Gene

Pathways & Interactions for ANKRD30B Gene

PathCards logo

SuperPathways for ANKRD30B Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD30B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with ANKRD30B: view

No data available for Pathways by source and SIGNOR curated interactions for ANKRD30B Gene

Drugs & Compounds for ANKRD30B Gene

No Compound Related Data Available

Transcripts for ANKRD30B Gene

mRNA/cDNA for ANKRD30B Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKRD30B

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD30B Gene

No ASD Table

Relevant External Links for ANKRD30B Gene

GeneLoc Exon Structure for

Expression for ANKRD30B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANKRD30B Gene

mRNA differential expression in normal tissues according to GTEx for ANKRD30B Gene

This gene is overexpressed in Testis (x17.8) and Nerve - Tibial (x7.6).

Protein differential expression in normal tissues from HIPED for ANKRD30B Gene

This gene is overexpressed in Nasal epithelium (37.1) and CD8 Tcells (28.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANKRD30B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANKRD30B

SOURCE GeneReport for Unigene cluster for ANKRD30B Gene:


mRNA Expression by UniProt/SwissProt for ANKRD30B Gene:

Tissue specificity: Expressed in brain, breast and testis.
genes like me logo Genes that share expression patterns with ANKRD30B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD30B Gene

Orthologs for ANKRD30B Gene

This gene was present in the common ancestor of chordates.

Orthologs for ANKRD30B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ANKRD30B 30
  • 97.44 (n)
-- 31
  • 69 (a)
-- 31
  • 33 (a)
(Bos Taurus)
Mammalia -- 31
  • 40 (a)
(Canis familiaris)
Mammalia -- 31
  • 39 (a)
-- 31
  • 37 (a)
-- 31
  • 37 (a)
-- 31
  • 30 (a)
-- 31
  • 22 (a)
-- 31
  • 18 (a)
-- 31
  • 17 (a)
-- 31
  • 17 (a)
(Monodelphis domestica)
Mammalia -- 31
  • 29 (a)
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 15 (a)
(Mus musculus)
Mammalia Ankrd36 31
  • 13 (a)
(Gallus gallus)
Aves -- 31
  • 20 (a)
(Anolis carolinensis)
Reptilia -- 31
  • 36 (a)
(Danio rerio)
Actinopterygii ANKRD7 31
  • 10 (a)
Species where no ortholog for ANKRD30B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 Vase (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 ANKRD30B Gene

Gene Tree for ANKRD30B (if available)
Gene Tree for ANKRD30B (if available)
Evolutionary constrained regions (ECRs) for ANKRD30B: view image

Paralogs for ANKRD30B Gene

Variants for ANKRD30B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANKRD30B Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
812590 Uncertain Significance: Reduced number of teeth 14,797,670(+) AT/A FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs9675365 - p.Phe477Leu
rs9748611 - p.Val375Met

Additional dbSNP identifiers (rs#s) for ANKRD30B Gene

Structural Variations from Database of Genomic Variants (DGV) for ANKRD30B Gene

Variant ID Type Subtype PubMed ID
dgv604e214 CNV gain 21293372
esv1712682 CNV deletion 17803354
esv2107318 CNV deletion 18987734
esv21571 CNV loss 19812545
esv22961 CNV loss 19812545
esv2397925 CNV deletion 18987734
esv2421993 CNV duplication 20811451
esv2429241 CNV deletion 19546169
esv2671401 CNV deletion 23128226
esv2716842 CNV deletion 23290073
esv2716843 CNV deletion 23290073
esv2716844 CNV deletion 23290073
esv2751771 CNV loss 17911159
esv2758715 CNV gain 17122850
esv3555111 CNV deletion 23714750
esv3555112 CNV deletion 23714750
esv3582984 CNV loss 25503493
esv3641907 CNV loss 21293372
esv3641908 CNV loss 21293372
esv3641909 CNV loss 21293372
esv3641913 CNV loss 21293372
esv3641914 CNV gain 21293372
esv3641915 CNV loss 21293372
esv3641916 CNV loss 21293372
esv999230 CNV deletion 20482838
nsv1061152 CNV loss 25217958
nsv2216 CNV deletion 18451855
nsv436247 CNV deletion 17901297
nsv498876 CNV loss 21111241
nsv514862 CNV gain 21397061
nsv954097 CNV deletion 24416366
nsv960263 CNV duplication 23825009
nsv960264 CNV duplication 23825009
nsv960674 CNV duplication 23825009
nsv961030 CNV duplication 23825009
nsv961032 CNV duplication 23825009
nsv961033 CNV duplication 23825009
nsv9617 CNV gain+loss 18304495
nsv9618 CNV gain+loss 18304495
nsv9619 CNV loss 18304495
nsv962499 CNV duplication 23825009
nsv978568 CNV duplication 23825009
nsv978615 CNV duplication 23825009

Variation tolerance for ANKRD30B Gene

Gene Damage Index Score: 9.14; 87.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKRD30B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD30B Gene

Disorders for ANKRD30B Gene

No disorders were found for ANKRD30B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKRD30B Gene

Publications for ANKRD30B 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
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  3. Cell cycle-dependent phosphorylation regulates RECQL4 pathway choice and ubiquitination in DNA double-strand break repair. (PMID: 29229926) Lu H … Bohr VA (Nature communications 2017) 3
  4. DNA sequence and analysis of human chromosome 18. (PMID: 16177791) Nusbaum C … Lander ES (Nature 2005) 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4

Products for ANKRD30B Gene

Sources for ANKRD30B Gene