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Aliases for ANKRD13B Gene

Aliases for ANKRD13B Gene

  • Ankyrin Repeat Domain 13B 2 3 5

External Ids for ANKRD13B Gene

Previous GeneCards Identifiers for ANKRD13B Gene

  • GC17P024945
  • GC17P027916
  • GC17P024129

Summaries for ANKRD13B Gene

GeneCards Summary for ANKRD13B Gene

ANKRD13B (Ankyrin Repeat Domain 13B) is a Protein Coding gene. An important paralog of this gene is ANKRD13D.

UniProtKB/Swiss-Prot for ANKRD13B Gene

  • Ubiquitin-binding protein that specifically recognizes and binds Lys-63-linked ubiquitin. Does not bind Lys-48-linked ubiquitin. Positively regulates the internalization of ligand-activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKRD13B Gene

Genomics for ANKRD13B Gene

Regulatory Elements for ANKRD13B Gene

Enhancers for ANKRD13B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F029586 1.5 FANTOM5 ENCODE 30.3 +0.8 834 8.4 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 TP53I13 CORO6 ANKRD13B ENSG00000264290 ENSG00000258472 EFCAB5 GIT1 ENSG00000264647
GH17F029638 1.7 FANTOM5 Ensembl ENCODE 13.6 +52.7 52704 8.2 HDGF PKNOX1 ARNT SIN3A FEZF1 ZNF2 ZNF766 ZNF143 FOS REST CORO6 SMURF2P1 SH3GL1P2 ANKRD13B LRRC37BP1 ENSG00000264577 ENSG00000252657 NUFIP2 TAOK1 ENSG00000239129
GH17F029290 1.6 FANTOM5 ENCODE 12.1 -296.5 -296504 4.8 CREB3L1 MLX DMAP1 YY1 SLC30A9 ZNF263 SP3 NFYC TBX21 MEF2D ENSG00000264577 NUFIP2 ENSG00000265289 ENSG00000264647 PHF12 LOC101927018 ENSG00000266111 LOC105371715 LOC105371716 NDUFS5P7
GH17F029682 1.6 FANTOM5 Ensembl ENCODE 10.9 +93.1 93091 2.8 CREB3L1 ARID4B SIN3A ZNF766 ZNF143 DEK ZNF263 NCOA1 MIER2 REST CORO6 RNU6-920P ANKRD13B SSH2 RPL21P123 ENSG00000265625
GH17F028944 1.5 FANTOM5 ENCODE 10.7 -640.4 -640431 8.9 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 ENSG00000264577 SDF2 MIR4723 NUFIP2 ENSG00000264290 PHF12 RPL23A ANKRD13B ENSG00000258472 TAOK1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ANKRD13B on UCSC Golden Path with GeneCards custom track

Promoters for ANKRD13B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001806217 1631 1201 ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 ZNF263 SP3 SP5

Genomic Location for ANKRD13B Gene

Chromosome:
17
Start:
29,589,769 bp from pter
End:
29,614,761 bp from pter
Size:
24,993 bases
Orientation:
Plus strand

Genomic View for ANKRD13B Gene

Genes around ANKRD13B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD13B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD13B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD13B Gene

Proteins for ANKRD13B Gene

  • Protein details for ANKRD13B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86YJ7-AN13B_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 13B
    Protein Accession:
    Q86YJ7
    Secondary Accessions:
    • Q8N7S9

    Protein attributes for ANKRD13B Gene

    Size:
    626 amino acids
    Molecular mass:
    70205 Da
    Quaternary structure:
    • Interacts with EGFR (ubiquitinated); the interaction is direct and may regulate EGFR internalization.

    Alternative splice isoforms for ANKRD13B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKRD13B Gene

Post-translational modifications for ANKRD13B Gene

  • Ubiquitination at Lys 246
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ANKRD13B Gene

Domains & Families for ANKRD13B Gene

Gene Families for ANKRD13B Gene

Suggested Antigen Peptide Sequences for ANKRD13B Gene

Graphical View of Domain Structure for InterPro Entry

Q86YJ7

UniProtKB/Swiss-Prot:

AN13B_HUMAN :
  • Contains 3 UIM (ubiquitin-interacting motif) domains.
  • Contains 2 ANK repeats.
Domain:
  • Contains 3 UIM (ubiquitin-interacting motif) domains.
Similarity:
  • Contains 2 ANK repeats.
genes like me logo Genes that share domains with ANKRD13B: view

Function for ANKRD13B Gene

Molecular function for ANKRD13B Gene

UniProtKB/Swiss-Prot Function:
Ubiquitin-binding protein that specifically recognizes and binds Lys-63-linked ubiquitin. Does not bind Lys-48-linked ubiquitin. Positively regulates the internalization of ligand-activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane.
genes like me logo Genes that share phenotypes with ANKRD13B: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKRD13B Gene

Localization for ANKRD13B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKRD13B Gene

Cell membrane. Late endosome. Early endosome. Note=Interaction with EGFR may enhance association with the cell membrane.

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 ANKRD13B gene
Compartment Confidence
plasma membrane 3
nucleus 3
endosome 3
cytosol 2

Gene Ontology (GO) - Cellular Components for ANKRD13B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
GO:0005770 late endosome IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with ANKRD13B: view

Pathways & Interactions for ANKRD13B Gene

SuperPathways for ANKRD13B Gene

No Data Available

Interacting Proteins for ANKRD13B Gene

Gene Ontology (GO) - Biological Process for ANKRD13B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ANKRD13B Gene

Transcripts for ANKRD13B Gene

Unigene Clusters for ANKRD13B Gene

Ankyrin repeat domain 13B:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD13B Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14
SP1:
SP2: - -
SP3: -
SP4:
SP5:
SP6: -

Relevant External Links for ANKRD13B Gene

GeneLoc Exon Structure for
ANKRD13B
ECgene alternative splicing isoforms for
ANKRD13B

Expression for ANKRD13B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANKRD13B Gene

mRNA differential expression in normal tissues according to GTEx for ANKRD13B Gene

This gene is overexpressed in Brain - Cerebellum (x4.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANKRD13B Gene



NURSA nuclear receptor signaling pathways regulating expression of ANKRD13B Gene:

ANKRD13B

SOURCE GeneReport for Unigene cluster for ANKRD13B Gene:

Hs.662164
genes like me logo Genes that share expression patterns with ANKRD13B: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ANKRD13B Gene

Orthologs for ANKRD13B Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKRD13B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANKRD13B 34 35
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia ANKRD13B 34 35
  • 93.09 (n)
cow
(Bos Taurus)
Mammalia ANKRD13B 34 35
  • 92.75 (n)
rat
(Rattus norvegicus)
Mammalia Ankrd13b 34
  • 90.1 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKRD13B 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ankrd13b 34 16 35
  • 89.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD13B 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKRD13B 34 35
  • 83.24 (n)
lizard
(Anolis carolinensis)
Reptilia ANKRD13B 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankrd13b 34
  • 75.78 (n)
zebrafish
(Danio rerio)
Actinopterygii ankrd13b 35
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG15118 35
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C18F10.7 35
  • 36 (a)
OneToMany
Species where no ortholog for ANKRD13B 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for ANKRD13B Gene

ENSEMBL:
Gene Tree for ANKRD13B (if available)
TreeFam:
Gene Tree for ANKRD13B (if available)

Paralogs for ANKRD13B Gene

Paralogs for ANKRD13B Gene

(4) SIMAP similar genes for ANKRD13B Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ANKRD13B: view

Variants for ANKRD13B Gene

Sequence variations from dbSNP and Humsavar for ANKRD13B Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1064133 -- 29,614,729(-) CCTCA(A/G)AATCA nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs11080107 -- 29,611,406(+) CCTGG(C/T)CCTTG intron-variant
rs111418919 -- 29,589,781(+) GGGGC(A/C)GCGGC upstream-variant-2KB, utr-variant-5-prime
rs111430893 -- 29,601,056(+) GTAGC(G/T)GGGAC intron-variant
rs111487344 -- 29,614,765(+) GAGGC(G/T)TTTGC intron-variant, nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ANKRD13B Gene

Variant ID Type Subtype PubMed ID
esv26830 CNV loss 19812545
nsv1070397 CNV deletion 25765185
nsv521557 CNV loss 19592680
nsv827941 CNV gain 20364138
nsv833409 CNV gain 17160897
nsv833410 CNV loss 17160897

Variation tolerance for ANKRD13B Gene

Residual Variation Intolerance Score: 10.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.08; 22.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANKRD13B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKRD13B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD13B Gene

Disorders for ANKRD13B Gene

Relevant External Links for ANKRD13B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKRD13B

No disorders were found for ANKRD13B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKRD13B Gene

Publications for ANKRD13B Gene

  1. The Ankrd 13 family of UIM-bearing proteins regulates EGF receptor endocytosis from the plasma membrane. (PMID: 22298428) Tanno H. … Komada M. (Mol. Biol. Cell 2012) 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The Ankrd13 Family of Ubiquitin-interacting Motif-bearing Proteins Regulates Valosin-containing Protein/p97 Protein-mediated Lysosomal Trafficking of Caveolin 1. (PMID: 26797118) Burana D. … Komada M. (J. Biol. Chem. 2016) 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for ANKRD13B Gene

Sources for ANKRD13B Gene

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