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Aliases for ANKRD13D Gene

Aliases for ANKRD13D Gene

  • Ankyrin Repeat Domain 13D 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

Entrez Gene Summary for ANKRD13D Gene

  • The protein encoded by this gene is a member of the ankyrin repeat domain (ANKRD) 13 family, which currently consists of four proteins containing ubiquitin-interacting motifs. These proteins are integral membrane proteins that bind specifically to Lys-63-linked ubiquitin chains on membrane-bound proteins, targeting those proteins for rapid internalization. [provided by RefSeq, Dec 2016]

GeneCards Summary for ANKRD13D Gene

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

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 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 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
GH11F067251 0.2 ENCODE 25.2 -34.9 -34852 3.5 HDGF PKNOX1 SIN3A ZNF2 RAD21 YY1 ZNF335 GLIS2 ZNF366 FOS SSH3 ANKRD13D POLD4 RN7SKP239 ENSG00000256514 CLCF1 PPP1CA RPS6KB2 ENSG00000255949 PTPRCAP
GH11F067265 1 FANTOM5 ENCODE 12.6 -10.1 -10083 25.5 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 SSH3 ENSG00000258297 GRK2 KDM2A ANKRD13D RBM14 PTPRCAP LOC101928069 MRPL11 RHOD
GH11F067350 1.3 FANTOM5 ENCODE 12.6 +66.2 66185 7.8 ZFP64 YBX1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 GLIS1 ENSG00000258297 RBM14 RCE1 SSH3 RAD9A RBM4B FAM86C2P MRPL11 ANKRD13D CLCF1
GH11F067364 1.3 FANTOM5 ENCODE 12.5 +82.3 82311 12.3 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 FOS ZNF263 SP3 REST SSH3 ANKRD13D PTPRCAP RHOD RAD9A NDUFS8 CDK2AP2 CLCF1 PPP1CA ENSG00000256514
GH11F067077 1.2 FANTOM5 Ensembl ENCODE 12.5 -210.2 -210206 2.5 TBP KLF17 BRCA1 ZNF366 FOS DEK EGR2 PAF1 SMARCC1 CEBPB RHOD KDM2A ANKRD13D CDK2AP2 GRK2 RBM4 CLCF1 SSH3 TMEM134 PITPNM1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000564164 853 2001 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

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

Post-translational modifications for ANKRD13D Gene

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

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

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

miRNA for ANKRD13D Gene

miRTarBase miRNAs that target ANKRD13D

Inhibitory RNA Products

Flow Cytometry Products

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:0005737 cytoplasm IBA --
GO:0005768 endosome IEA --
GO:0005770 late endosome IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 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

Gene Ontology (GO) - Biological Process for ANKRD13D Gene

None

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

Transcripts for ANKRD13D Gene

Unigene Clusters for ANKRD13D Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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, MaxQB, and MOPED for ANKRD13D Gene



Protein tissue co-expression partners for ANKRD13D Gene

NURSA nuclear receptor signaling pathways regulating expression of ANKRD13D Gene:

ANKRD13D

SOURCE GeneReport for Unigene cluster for ANKRD13D Gene:

Hs.438673
genes like me logo Genes that share expression patterns with ANKRD13D: view

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
chimpanzee
(Pan troglodytes)
Mammalia ANKRD13D 34 35
  • 99.23 (n)
cow
(Bos Taurus)
Mammalia ANKRD13D 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANKRD13D 34 35
  • 90.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD13D 35
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankrd13d 34
  • 87.49 (n)
mouse
(Mus musculus)
Mammalia Ankrd13d 34 16 35
  • 87.38 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKRD13D 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKRD13D 35
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKRD13D 35
  • 75 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ANKRD13D 35
  • 70 (a)
OneToOne
LOC562931 34
  • 67.35 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010677 34
  • 56.38 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15118 34 35
  • 54.86 (n)
worm
(Caenorhabditis elegans)
Secernentea C18F10.7 35
  • 36 (a)
OneToMany
Species where no ortholog for ANKRD13D was found in the sources mined by GeneCards:
  • 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
rs386352277 Uncertain significance 67,290,346(+) CACTG(G/T)AGACC nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs10896166 -- 67,292,980(+) TAGCA(C/T)GTAAC intron-variant
rs10896167 -- 67,298,418(+) GTGCG(C/T)GTGAG intron-variant
rs111239786 -- 67,299,998(+) GCCCC(C/T)GTGCA nc-transcript-variant, reference, synonymous-codon
rs111345048 -- 67,290,064(+) AGTGT(C/G/T)CCGTC intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv7980 OTHER inversion 19470904
nsv1118216 CNV deletion 24896259
nsv468603 CNV loss 19166990
nsv555253 CNV loss 21841781
nsv951021 CNV deletion 24416366

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)

Relevant External Links for ANKRD13D Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKRD13D

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 64
  2. 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 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. 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
  5. 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

Products for ANKRD13D Gene

Sources for ANKRD13D Gene

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