Aliases for ANKRD13A Gene

Aliases for ANKRD13A Gene

  • Ankyrin Repeat Domain 13A 2 3 5
  • Ankyrin Repeat Domain-Containing Protein 13A 3 4
  • NY-REN-25 2 3
  • ANKRD13 3 4
  • Ankyrin Repeat Domain 13 2
  • NY-REN-25 Antigen 3
  • Protein KE03 4
  • ANKRD13A 5

External Ids for ANKRD13A Gene

Previous HGNC Symbols for ANKRD13A Gene

  • ANKRD13

Previous GeneCards Identifiers for ANKRD13A Gene

  • GC12P108921
  • GC12P110437
  • GC12P107452

Summaries for ANKRD13A Gene

GeneCards Summary for ANKRD13A Gene

ANKRD13A (Ankyrin Repeat Domain 13A) is a Protein Coding gene. Diseases associated with ANKRD13A include Anterior Segment Dysgenesis 5 and Atrial Septal Defect 5. An important paralog of this gene is ANKRD13D.

UniProtKB/Swiss-Prot Summary for ANKRD13A 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 ANKRD13A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKRD13A Gene

Genomics for ANKRD13A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ANKRD13A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKRD13A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKRD13A

Top Transcription factor binding sites by QIAGEN in the ANKRD13A gene promoter:
  • AP-1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Elk-1
  • En-1
  • POU2F1

Genomic Locations for ANKRD13A Gene

Genomic Locations for ANKRD13A Gene
chr12:109,999,169-110,039,763
(GRCh38/hg38)
Size:
40,595 bases
Orientation:
Plus strand
chr12:110,436,991-110,477,568
(GRCh37/hg19)
Size:
40,578 bases
Orientation:
Plus strand

Genomic View for ANKRD13A Gene

Genes around ANKRD13A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKRD13A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKRD13A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKRD13A Gene

Proteins for ANKRD13A Gene

  • Protein details for ANKRD13A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZ07-AN13A_HUMAN
    Recommended name:
    Ankyrin repeat domain-containing protein 13A
    Protein Accession:
    Q8IZ07
    Secondary Accessions:
    • O60736

    Protein attributes for ANKRD13A Gene

    Size:
    590 amino acids
    Molecular mass:
    67619 Da
    Quaternary structure:
    • Interacts (via the UIM 3 and 4 repeats) with EGFR (ubiquitinated); the interaction is direct, inhibited by ANKRD13A monoubiquitination and may regulate EGFR internalization.
    SequenceCaution:
    • Sequence=AAC17109.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for ANKRD13A Gene

Post-translational modifications for ANKRD13A Gene

  • Monoubiquitinated, inhibits interaction with ubiquitinated EGFR.
  • Ubiquitination at Lys19, Lys27, Lys217, Lys239, Lys247, Lys257, Lys279, Lys400, and Lys410
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ANKRD13A Gene

Domains & Families for ANKRD13A Gene

Gene Families for ANKRD13A Gene

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

Protein Domains for ANKRD13A Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
  • Ubiquitin interacting motif
ProtoNet:

Suggested Antigen Peptide Sequences for ANKRD13A Gene

GenScript: Design optimal peptide antigens:
  • Protein KE03 (AN13A_HUMAN)
  • cDNA FLJ12596 fis, clone NT2RM4001347, highly similar to Ankyrin repeat domain-containing protein 13 (B3KMT9_HUMAN)
  • cDNA FLJ37811 fis, clone BRSSN2001869, moderately similar to Ankyrin repeat domain-containing protein 13 (B3KT78_HUMAN)
  • NY-REN-25 antigen (Q3ZTS7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IZ07

UniProtKB/Swiss-Prot:

AN13A_HUMAN :
  • The UIM repeats 3 and 4 are required for binding to ubiquitinated EGFR and 'Lys-63'-linked ubiquitin.
Domain:
  • The UIM repeats 3 and 4 are required for binding to ubiquitinated EGFR and 'Lys-63'-linked ubiquitin.
genes like me logo Genes that share domains with ANKRD13A: view

Function for ANKRD13A Gene

Molecular function for ANKRD13A 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 ANKRD13A Gene

Gene Ontology (GO) - Molecular Function for ANKRD13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0140036 ubiquitin-dependent protein binding IPI 22298428
genes like me logo Genes that share ontologies with ANKRD13A: view

Phenotypes for ANKRD13A Gene

genes like me logo Genes that share phenotypes with ANKRD13A: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ANKRD13A

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKRD13A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKRD13A Gene

Localization for ANKRD13A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKRD13A 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 ANKRD13A gene
Compartment Confidence
plasma membrane 5
endosome 5
cytosol 3
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
extracellular 0
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANKRD13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IDA 22298428
GO:0005768 endosome IEA --
GO:0005770 late endosome IEA,IDA 22298428
GO:0005886 plasma membrane IDA 22298428
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ANKRD13A: view

Pathways & Interactions for ANKRD13A Gene

PathCards logo

SuperPathways for ANKRD13A Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD13A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002091 negative regulation of receptor internalization IMP 22298428
GO:1905667 negative regulation of protein localization to endosome IDA 22298428
genes like me logo Genes that share ontologies with ANKRD13A: view

No data available for Pathways by source and SIGNOR curated interactions for ANKRD13A Gene

Drugs & Compounds for ANKRD13A Gene

No Compound Related Data Available

Transcripts for ANKRD13A Gene

mRNA/cDNA for ANKRD13A Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKRD13A

Alternative Splicing Database (ASD) splice patterns (SP) for ANKRD13A Gene

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

Relevant External Links for ANKRD13A Gene

GeneLoc Exon Structure for
ANKRD13A

Expression for ANKRD13A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ANKRD13A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANKRD13A Gene

This gene is overexpressed in Whole Blood (x5.8).

Protein differential expression in normal tissues from HIPED for ANKRD13A Gene

This gene is overexpressed in Bone (25.9), Lymph node (10.5), and Peripheral blood mononuclear cells (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ANKRD13A Gene



Protein tissue co-expression partners for ANKRD13A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANKRD13A

SOURCE GeneReport for Unigene cluster for ANKRD13A Gene:

Hs.528703

Evidence on tissue expression from TISSUES for ANKRD13A Gene

  • Blood(4.2)
  • Liver(4.2)
  • Nervous system(2.9)
  • Lymph node(2.2)
genes like me logo Genes that share expression patterns with ANKRD13A: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD13A Gene

Orthologs for ANKRD13A Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKRD13A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ANKRD13A 30 31
  • 99.83 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ANKRD13A 30 31
  • 91.3 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ANKRD13A 30 31
  • 88.31 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ANKRD13A 31
  • 88 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 87 (a)
OneToMany
-- 31
  • 69 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Ankrd13a 30
  • 86.22 (n)
Mouse
(Mus musculus)
Mammalia Ankrd13a 30 17 31
  • 85.54 (n)
OneToOne
Chicken
(Gallus gallus)
Aves ANKRD13A 30 31
  • 73.68 (n)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.4388 30
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.9215 30
Zebrafish
(Danio rerio)
Actinopterygii ankrd13a 30 31
  • 62.92 (n)
OneToOne
Dr.27327 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG15118 31
  • 37 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C18F10.7 30 31
  • 47.91 (n)
OneToMany
Species where no ortholog for ANKRD13A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Lizard (Anolis carolinensis)
  • 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 Vase (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 ANKRD13A Gene

ENSEMBL:
Gene Tree for ANKRD13A (if available)
TreeFam:
Gene Tree for ANKRD13A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ANKRD13A: view image

Paralogs for ANKRD13A Gene

Paralogs for ANKRD13A Gene

(5) SIMAP similar genes for ANKRD13A Gene using alignment to 5 proteins:

  • AN13A_HUMAN
  • F8W150_HUMAN
  • H0YIN8_HUMAN
  • S4R3D2_HUMAN
  • S4R3U2_HUMAN
genes like me logo Genes that share paralogs with ANKRD13A: view

Variants for ANKRD13A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANKRD13A Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs2287174 - p.Leu505Pro

Additional dbSNP identifiers (rs#s) for ANKRD13A Gene

Structural Variations from Database of Genomic Variants (DGV) for ANKRD13A Gene

Variant ID Type Subtype PubMed ID
nsv884 CNV insertion 18451855
nsv952476 CNV deletion 24416366

Variation tolerance for ANKRD13A Gene

Residual Variation Intolerance Score: 18.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.59; 65.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANKRD13A Gene

Human Gene Mutation Database (HGMD)
ANKRD13A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANKRD13A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD13A Gene

Disorders for ANKRD13A Gene

MalaCards: The human disease database

(2) MalaCards diseases for ANKRD13A Gene - From: DISEASES

Disorder Aliases PubMed IDs
anterior segment dysgenesis 5
  • asgd5
atrial septal defect 5
  • asd5
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ANKRD13A

genes like me logo Genes that share disorders with ANKRD13A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANKRD13A Gene

Publications for ANKRD13A 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
  2. 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
  3. Antigens recognized by autologous antibody in patients with renal-cell carcinoma. (PMID: 10508479) Scanlan MJ … Old LJ (International journal of cancer 1999) 2 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling. (PMID: 31073040) Choi JH … Beutler B (Science (New York, N.Y.) 2019) 3

Products for ANKRD13A Gene

Sources for ANKRD13A Gene