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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
  • 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 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 ANKRD30B Gene

Genomics for ANKRD30B Gene

Regulatory Elements for ANKRD30B Gene

Genomic Location for ANKRD30B Gene

Chromosome:
18
Start:
14,728,272 bp from pter
End:
14,855,465 bp from pter
Size:
127,194 bases
Orientation:
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:
    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

Proteomics data for ANKRD30B Gene at MOPED

Post-translational modifications for ANKRD30B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKRD30B Gene

ENSEMBL proteins:
REFSEQ proteins:

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:

Graphical View of Domain Structure for InterPro Entry

Q9BXX2

UniProtKB/Swiss-Prot:

AN30B_HUMAN :
  • Contains 5 ANK repeats.
Similarity:
  • Contains 5 ANK repeats.
genes like me logo Genes that share domains with ANKRD30B: view

Function for ANKRD30B Gene

Phenotypes for ANKRD30B Gene

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

Animal Model Products

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

Localization for ANKRD30B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANKRD30B Gene COMPARTMENTS Subcellular localization image for ANKRD30B gene
Compartment Confidence
nucleus 3
cytosol 2
golgi apparatus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ANKRD30B Gene

Pathways & Interactions for ANKRD30B Gene

SuperPathways for ANKRD30B Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD30B Gene

None

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

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

Unigene Clusters for ANKRD30B Gene

Ankyrin repeat domain 30B:
Representative Sequences:

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 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, PaxDb, and MOPED for ANKRD30B Gene



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

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners 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 35
  • 97.44 (n)
  • 95.85 (a)
-- 36
  • 33 (a)
ManyToMany
-- 36
  • 69 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 36
  • 40 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 17 (a)
ManyToMany
-- 36
  • 39 (a)
ManyToMany
-- 36
  • 17 (a)
ManyToMany
-- 36
  • 18 (a)
ManyToMany
-- 36
  • 22 (a)
ManyToMany
-- 36
  • 30 (a)
ManyToMany
-- 36
  • 37 (a)
ManyToMany
-- 36
  • 37 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 29 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Ankrd36 36
  • 13 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 15 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 36
  • 20 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 36 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii ANKRD7 36
  • 10 (a)
OneToMany
Species with no ortholog for ANKRD30B:
  • 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)

Paralogs for ANKRD30B Gene

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 Sequence Context AA Info Type
VAR_042540 -
rs9675365 - 14,779,970(+) ATGTT(C/G)CCATC nc-transcript-variant, reference, missense
rs1713878 -- 14,853,697(+) CAGCA(A/G)TGTGC intron-variant
rs1713879 -- 14,855,615(+) ctcct(C/T)accta downstream-variant-500B
rs1713880 -- 14,855,735(+) cacct(A/C)ccaag downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
dgv1013e1 CNV Complex 17122850
essv5519 CNV CNV 17122850
nsv909431 CNV Loss 21882294
esv2751771 CNV Loss 17911159
nsv909433 CNV Gain 21882294
esv2421993 CNV Duplication 20811451
nsv9617 CNV Gain+Loss 18304495
dgv1014e1 CNV Complex 17122850
essv24101 CNV CNV 17122850
esv2716842 CNV Deletion 23290073
esv21571 CNV Loss 19812545
nsv2216 CNV Loss 18451855
esv2671401 CNV Deletion 23128226
esv2107318 CNV Deletion 18987734
nsv514862 CNV Complex 21397061
nsv9618 CNV Gain+Loss 18304495
essv21900 CNV CNV 17122850
esv2716843 CNV Deletion 23290073
esv22961 CNV Loss 19812545
nsv498876 CNV Loss 21111241
nsv436247 CNV Deletion 17901297
esv2397925 CNV Deletion 18987734
esv2716844 CNV Deletion 23290073
esv999230 CNV Deletion 20482838
esv2429241 CNV Deletion 19546169
esv1712682 CNV Deletion 17803354
dgv1015e1 CNV Complex 17122850
nsv909434 CNV Gain 21882294
nsv9619 CNV Loss 18304495

Variation tolerance for ANKRD30B Gene

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

Relevant External Links for ANKRD30B Gene

HapMap Linkage Disequilibrium report
ANKRD30B

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

Disorders for ANKRD30B Gene

Relevant External Links for ANKRD30B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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) Jaeger D. … Chen Y.-T. (Cancer Res. 2001) 2 3 4 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for ANKRD30B Gene

Sources for ANKRD30B Gene

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