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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
  • Breast Cancer Antigen NY-BR-1.1 3
  • NY-BR-1.1 3

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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKRD30B Gene

Genomics for ANKRD30B Gene

GeneHancer (GH) Regulatory Elements for ANKRD30B Gene

Promoters and enhancers for ANKRD30B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J014748 Promoter 0.5 EPDnew 650.4 +19.9 19919 0.1 LOC105372007 ANKRD30B GC18P014759
GH18J014798 Enhancer 0.4 ENCODE 0.2 +70.3 70315 0.1 CTBP1 GATA3 ENSG00000265737 LOC105372008 ANKRD30B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ANKRD30B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKRD30B gene promoter:

Genomic Locations for ANKRD30B Gene

Genomic Locations for ANKRD30B Gene
chr18:14,728,272-14,855,465
(GRCh38/hg38)
Size:
127,194 bases
Orientation:
Plus strand
chr18:14,728,271-14,852,737
(GRCh37/hg19)

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:
    Q9BXX2-AN30B_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 30B
    Protein Accession:
    Q9BXX2
    Secondary Accessions:
    • B4DGP1
    • F8WAG3
    • Q4G175

    Protein attributes for ANKRD30B Gene

    Size:
    1392 amino acids
    Molecular mass:
    158049 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK27326.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAK27326.1; Type=Frameshift; Positions=120; Evidence={ECO:0000305}; Sequence=BAG57852.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ANKRD30B Gene

    UniProtKB/Swiss-Prot:

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ANKRD30B Gene

Suggested Antigen Peptide Sequences for ANKRD30B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ANKRD30B: view

No data available for UniProtKB/Swiss-Prot for ANKRD30B Gene

Function 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

Clone Products

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

Localization for ANKRD30B 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 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

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

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

Unigene Clusters for ANKRD30B Gene

Ankyrin repeat domain 30B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

No ASD Table

Relevant External Links for ANKRD30B Gene

GeneLoc Exon Structure for
ANKRD30B
ECgene alternative splicing isoforms for
ANKRD30B

Expression for ANKRD30B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of ANKRD30B Gene:

ANKRD30B

SOURCE GeneReport for Unigene cluster for ANKRD30B Gene:

Hs.567889

mRNA Expression by UniProt/SwissProt for ANKRD30B Gene:

Q9BXX2-AN30B_HUMAN
Tissue specificity: Expressed in brain, breast and testis.
genes like me logo Genes that share expression patterns with ANKRD30B: view

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
chimpanzee
(Pan troglodytes)
Mammalia ANKRD30B 33
  • 97.44 (n)
-- 34
  • 69 (a)
ManyToMany
-- 34
  • 33 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 40 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 39 (a)
ManyToMany
-- 34
  • 37 (a)
ManyToMany
-- 34
  • 37 (a)
ManyToMany
-- 34
  • 30 (a)
ManyToMany
-- 34
  • 22 (a)
ManyToMany
-- 34
  • 18 (a)
ManyToMany
-- 34
  • 17 (a)
ManyToMany
-- 34
  • 17 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 29 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 15 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ankrd36 34
  • 13 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 34
  • 20 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 36 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii ANKRD7 34
  • 10 (a)
OneToMany
Species where no ortholog for ANKRD30B 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)
  • 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 ANKRD30B Gene

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

Paralogs for ANKRD30B Gene

(20) SIMAP similar genes for ANKRD30B Gene using alignment to 1 proteins:

  • AN30B_HUMAN
genes like me logo Genes that share paralogs with ANKRD30B: view

Variants for ANKRD30B Gene

Sequence variations from dbSNP and Humsavar for ANKRD30B Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000084161 -- 14,759,371(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000155273 -- 14,760,802(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000190047 -- 14,829,553(+) G/T genic_downstream_transcript_variant, intron_variant
rs1000251223 -- 14,822,864(+) T/A downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000338274 -- 14,809,914(+) A/G intron_variant

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
ANKRD30B

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

Disorders for ANKRD30B Gene

Additional Disease Information for ANKRD30B

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 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. DNA sequence and analysis of human chromosome 18. (PMID: 16177791) Nusbaum C … Lander ES (Nature 2005) 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 58

Products for ANKRD30B Gene

Sources for ANKRD30B Gene

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