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Aliases for ANKRD13D Gene

Aliases for ANKRD13D Gene

  • Ankyrin Repeat Domain 13 Family Member D 2 3 5
  • Ankyrin Repeat Domain 13 Family, Member D 2

External Ids for ANKRD13D Gene

Previous GeneCards Identifiers for ANKRD13D Gene

  • GC11P066814
  • GC11P067056
  • GC11P063385

Summaries for ANKRD13D Gene

GeneCards Summary for ANKRD13D Gene

ANKRD13D (Ankyrin Repeat Domain 13 Family Member D) is a Protein Coding gene. An important paralog of this gene is ANKRD13A.

UniProtKB/Swiss-Prot for ANKRD13D 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 ANKRD13D Gene

Genomics for ANKRD13D Gene

Regulatory Elements for ANKRD13D Gene

Enhancers for ANKRD13D Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ANKRD13D on UCSC Golden Path with GeneCards custom track

Promoters for ANKRD13D Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ANKRD13D on UCSC Golden Path with GeneCards custom track

Genomic Location for ANKRD13D Gene

Chromosome:
11
Start:
67,288,547 bp from pter
End:
67,302,485 bp from pter
Size:
13,939 bases
Orientation:
Plus strand

Genomic View for ANKRD13D Gene

Genes around ANKRD13D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD13D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD13D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD13D Gene

Proteins for ANKRD13D Gene

  • Protein details for ANKRD13D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZTN6-AN13D_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 13D
    Protein Accession:
    Q6ZTN6
    Secondary Accessions:
    • D6RCN6
    • Q0VAK0
    • Q0VGC3
    • Q6ZVD0
    • Q86SU1

    Protein attributes for ANKRD13D Gene

    Size:
    518 amino acids
    Molecular mass:
    58476 Da
    Quaternary structure:
    • Interacts with EGFR (ubiquitinated); the interaction is direct and may regulate EGFR internalization.

    Alternative splice isoforms for ANKRD13D Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANKRD13D Gene

Proteomics data for ANKRD13D Gene at MOPED

Post-translational modifications for ANKRD13D Gene

  • Ubiquitination at Lys 27, Lys 159, Lys 268, and Lys 322
  • Modification sites at PhosphoSitePlus

Other Protein References for ANKRD13D Gene

No data available for DME Specific Peptides for ANKRD13D Gene

Domains & Families for ANKRD13D Gene

Gene Families for ANKRD13D Gene

Protein Domains for ANKRD13D Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ANKRD13D Gene

Graphical View of Domain Structure for InterPro Entry

Q6ZTN6

UniProtKB/Swiss-Prot:

AN13D_HUMAN :
  • Contains 4 UIM (ubiquitin-interacting motif) domains.
Domain:
  • Contains 4 UIM (ubiquitin-interacting motif) domains.
genes like me logo Genes that share domains with ANKRD13D: view

Function for ANKRD13D Gene

Molecular function for ANKRD13D 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.

Phenotypes for ANKRD13D Gene

MGI mutant phenotypes for ANKRD13D:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with ANKRD13D: view

Animal Models for ANKRD13D Gene

MGI Knock Outs for ANKRD13D:

Animal Model Products

CRISPR Products

miRNA for ANKRD13D Gene

miRTarBase miRNAs that target ANKRD13D

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ANKRD13D Gene

Localization for ANKRD13D Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKRD13D Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANKRD13D Gene COMPARTMENTS Subcellular localization image for ANKRD13D gene
Compartment Confidence
plasma membrane 4
endosome 3
mitochondrion 2
nucleus 2
cytosol 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ANKRD13D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with ANKRD13D: view

Pathways & Interactions for ANKRD13D Gene

SuperPathways for ANKRD13D Gene

No Data Available

Interacting Proteins for ANKRD13D Gene

Gene Ontology (GO) - Biological Process for ANKRD13D Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ANKRD13D Gene

Drugs & Compounds for ANKRD13D Gene

No Compound Related Data Available

Transcripts for ANKRD13D Gene

Unigene Clusters for ANKRD13D Gene

Ankyrin repeat domain 13 family, member D:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD13D Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^
SP1: - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - -
SP4: - -
SP5: - - -
SP6:
SP7: - - -
SP8: - -
SP9: - - - - -
SP10: -
SP11: - - -
SP12:

ExUns: 17 ^ 18 ^ 19
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for ANKRD13D Gene

GeneLoc Exon Structure for
ANKRD13D
ECgene alternative splicing isoforms for
ANKRD13D

Expression for ANKRD13D Gene

mRNA expression in normal human tissues for ANKRD13D Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANKRD13D Gene

This gene is overexpressed in Whole Blood (x7.9).

Protein differential expression in normal tissues from HIPED for ANKRD13D Gene

This gene is overexpressed in Fetal Brain (41.0), Frontal cortex (10.8), and CD8 Tcells (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for ANKRD13D Gene



SOURCE GeneReport for Unigene cluster for ANKRD13D Gene Hs.438673

genes like me logo Genes that share expression patterns with ANKRD13D: view

Protein tissue co-expression partners for ANKRD13D Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for ANKRD13D Gene

Orthologs for ANKRD13D Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKRD13D Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia ANKRD13D 35
  • 90.63 (n)
  • 94.05 (a)
ANKRD13D 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ankrd13d 35
  • 87.38 (n)
  • 92.4 (a)
Ankrd13d 16
Ankrd13d 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ANKRD13D 35
  • 99.23 (n)
  • 99.34 (a)
ANKRD13D 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankrd13d 35
  • 87.49 (n)
  • 93.06 (a)
cow
(Bos Taurus)
Mammalia ANKRD13D 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ANKRD13D 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD13D 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKRD13D 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKRD13D 36
  • 75 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC562931 35
  • 67.35 (n)
  • 74.11 (a)
ANKRD13D 36
  • 70 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010677 35
  • 56.38 (n)
  • 47.07 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15118 35
  • 54.86 (n)
  • 46.8 (a)
CG15118 36
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C18F10.7 36
  • 36 (a)
OneToMany
Species with no ortholog for ANKRD13D:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ANKRD13D Gene

ENSEMBL:
Gene Tree for ANKRD13D (if available)
TreeFam:
Gene Tree for ANKRD13D (if available)

Paralogs for ANKRD13D Gene

Paralogs for ANKRD13D Gene

(3) SIMAP similar genes for ANKRD13D Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ANKRD13D: view

Variants for ANKRD13D Gene

Sequence variations from dbSNP and Humsavar for ANKRD13D Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1574103 -- 67,290,128(-) GACAC(A/G)GCCAG nc-transcript-variant, reference, synonymous-codon, utr-variant-5-prime
rs2004225 -- 67,291,228(-) AGGTG(A/T)GTGCC intron-variant
rs2051458 -- 67,291,116(+) gcttt(C/T)tgagg intron-variant
rs2298815 -- 67,301,388(-) GCGGC(A/G)ACAGC nc-transcript-variant, downstream-variant-500B, reference, synonymous-codon
rs11601700 -- 67,297,031(+) ctatt(A/C)ttttt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANKRD13D Gene

Variant ID Type Subtype PubMed ID
nsv897796 CNV Loss 21882294
nsv897797 CNV Loss 21882294
dgv1192n71 CNV Loss 21882294
nsv897800 CNV Loss 21882294
nsv468603 CNV Loss 19166990
nsv897801 CNV Loss 21882294
nsv897802 CNV Loss 21882294
esv7980 OTHER Inversion 19470904
nsv897803 CNV Loss 21882294

Variation tolerance for ANKRD13D Gene

Residual Variation Intolerance Score: 12.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.18; 23.75% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ANKRD13D Gene

Disorders for ANKRD13D Gene

Relevant External Links for ANKRD13D

Genetic Association Database (GAD)
ANKRD13D
Human Genome Epidemiology (HuGE) Navigator
ANKRD13D
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKRD13D

No disorders were found for ANKRD13D Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKRD13D Gene

Publications for ANKRD13D 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 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3
  5. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud P.J. … . (Am. J. Hum. Genet. 2009) 3

Products for ANKRD13D Gene

Sources for ANKRD13D Gene

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