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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 3
  • Ankyrin Repeat Domain-Containing Protein 13D 3

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.

Additional gene information for ANKRD13D Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKRD13D Gene

Genomics for ANKRD13D Gene

GeneHancer (GH) Regulatory Elements for ANKRD13D Gene

Promoters and enhancers for ANKRD13D 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
GH11J067265 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 662.6 -10.1 -10083 25.5 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 MEF2D SSRP1 GRK2 ANKRD13D SSH3 KDM2A PTPRCAP RHOD CARNS1 C11orf80 PC RAD9A
GH11J067364 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.6 +82.3 82310 12.3 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZBTB7B YY1 E2F8 ZNF143 FOS CLCF1 POLD4 SSH3 ANKRD13D PTPRCAP RHOD RAD9A NDUFS8 CDK2AP2 PPP1CA
GH11J067350 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.6 +66.2 66185 7.8 DMAP1 YBX1 IRF4 YY1 ZNF143 SP3 NFYC GLIS1 NBN NR2C1 POLD4 ENSG00000274251 RBM14 SSH3 ANKRD13D KDM2A PTPRCAP RHOD RBM4 CARNS1
GH11J067627 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.3 +342.7 342741 8.6 HDGF CLOCK MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B NUDT8 PPP6R3 ENSG00000260808 DOC2GP ENSG00000255119 ENSG00000258297 KDM2A RAD9A RBM4 RPS6KB2
GH11J067301 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 10.9 +14.5 14541 3.8 HDGF PKNOX1 CLOCK ZFP64 ARID4B SIN3A DMAP1 ZBTB7B ZNF48 GLIS2 SSH3 PTPRCAP ANKRD13D GC11M067291
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ANKRD13D on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKRD13D gene promoter:
  • NF-1
  • p53
  • Nkx2-5
  • NF-kappaB
  • E47
  • Ik-3
  • NF-kappaB1
  • NF-kappaB2
  • Arnt
  • Nkx5-1

Genomic Locations for ANKRD13D Gene

Genomic Locations for ANKRD13D Gene
chr11:67,288,547-67,302,485
(GRCh38/hg38)
Size:
13,939 bases
Orientation:
Plus strand
chr11:67,056,018-67,069,956
(GRCh37/hg19)
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 posLast=322322, posLast=268268, posLast=159159, and posLast=2727
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ANKRD13D Gene

Domains & Families for ANKRD13D Gene

Gene Families for ANKRD13D Gene

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

Protein Domains for ANKRD13D Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ANKRD13D Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for ANKRD13D Gene

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 From GWAS Catalog for ANKRD13D Gene

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

Clone 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
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 ANKRD13D gene
Compartment Confidence
plasma membrane 4
endosome 3
mitochondrion 2
nucleus 2
extracellular 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleus (2)
See all subcellular structures

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

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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for ANKRD13D Gene

  • Nervous system(4.7)
  • Blood(4.3)
  • Lung(4.2)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with ANKRD13D: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.23 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANKRD13D 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANKRD13D 34 33
  • 90.63 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD13D 34
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankrd13d 33
  • 87.49 (n)
mouse
(Mus musculus)
Mammalia Ankrd13d 16 34 33
  • 87.38 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKRD13D 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKRD13D 34
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKRD13D 34
  • 75 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ANKRD13D 34
  • 70 (a)
OneToOne
LOC562931 33
  • 67.35 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010677 33
  • 56.38 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15118 34 33
  • 54.86 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C18F10.7 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ANKRD13D: view image

Paralogs for ANKRD13D Gene

Paralogs for ANKRD13D Gene

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

  • AN13D_HUMAN
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 Variation AA Info Type
rs386352277 uncertain-significance, not provided 67,290,346(+) G/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1000210030 -- 67,290,219(+) G/C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000217417 -- 67,293,245(+) G/C intron_variant
rs1000262406 -- 67,290,492(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000378333 -- 67,301,660(+) T/C genic_downstream_transcript_variant, intron_variant

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

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

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)

Additional Variant Information 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

Additional Disease Information for ANKRD13D

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

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 (Molecular biology of the cell 2012) 3 4 58
  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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 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) 3 4 58
  5. An Interaction Landscape of Ubiquitin Signaling. (PMID: 28190767) Zhang X … Vermeulen M (Molecular cell 2017) 3 58

Products for ANKRD13D Gene

Sources for ANKRD13D Gene

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