Aliases for ANKRD13B Gene

Aliases for ANKRD13B Gene

  • Ankyrin Repeat Domain 13B 2 3 5
  • Ankyrin Repeat Domain-Containing Protein 13B 3 4

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 Summary 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.

Additional gene information for ANKRD13B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKRD13B Gene

Genomics for ANKRD13B Gene

GeneHancer (GH) Regulatory Elements for ANKRD13B Gene

Promoters and enhancers for ANKRD13B 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
GH17J029586 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 762.6 +0.8 833 8.4 SIN3A ZBTB40 CTCF SIX5 ZBTB6 SMARCE1 POLR2A USF2 CREB1 HCFC1 ANKRD13B GIT1 ENSG00000264647 SUPT6H NUFIP2 ENSG00000264577 GOSR1 PHF12 TP53I13 ENSG00000265908
GH17J028715 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 30.3 -866.8 -866845 14.4 PPP1R10 ZNF785 SIN3A ZNF24 SP1 ZBTB40 CTCF SREBF1 SIX5 ZBTB6 ENSG00000264577 RPL23A NEK8 RAB34 SNORD42A SNORD4A SNORD4B X96641 piR-31970 TLCD1
GH17J029290 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 21.7 -296.6 -296643 5.1 ZNF785 SIN3A SP1 ZBTB40 CTCF ZBTB6 FOXA1 MLX SMARCE1 RBPJ NUFIP2 lnc-CRYBA1-4 PHF12 LOC101927018 ENSG00000265908 ENSG00000264577 SUPT6H SDF2 ANKRD13B ENSG00000264647
GH17J029175 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 -411.2 -411152 5.7 SIN3A ZNF24 ZBTB40 CTCF SREBF1 ZBTB6 MLX RBPJ SMARCE1 POLR2A MYO18A ENSG00000264577 ENSG00000265205 ENSG00000264290 ENSG00000265908 NUFIP2 ENSG00000264044 RPL23A SDF2 LOC101927018
GH17J028737 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 -845.5 -845549 13.9 ZNF785 SIN3A ZNF24 SP1 ZBTB40 CTCF SREBF1 FOXA1 ZBTB6 MLX TRAF4 ENSG00000265073 piR-43105-269 ENSG00000264577 NUFIP2 ENSG00000265205 SUPT6H ENSG00000264290 RPL23A ENSG00000265908
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKRD13B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKRD13B gene promoter:
  • c-Ets-1
  • HEN1
  • HTF
  • Nkx6-1
  • NRSF form 1
  • NRSF form 2
  • p53
  • Spz1

Genomic Locations for ANKRD13B Gene

Genomic Locations for ANKRD13B Gene
chr17:29,589,769-29,614,761
(GRCh38/hg38)
Size:
24,993 bases
Orientation:
Plus strand
chr17:27,916,787-27,941,779
(GRCh37/hg19)
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 Lys246
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ANKRD13B Gene

Domains & Families for ANKRD13B Gene

Gene Families for ANKRD13B Gene

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

Suggested Antigen Peptide Sequences for ANKRD13B Gene

GenScript: Design optimal peptide antigens:
  • Ankyrin repeat domain-containing protein 13B (AN13B_HUMAN)
  • ANKRD13B protein (Q6P5X6_HUMAN)
genes like me logo Genes that share domains with ANKRD13B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ANKRD13B Gene

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.

Phenotypes From GWAS Catalog for ANKRD13B Gene

Gene Ontology (GO) - Molecular Function for ANKRD13B 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 ANKRD13B: view
genes like me logo Genes that share phenotypes with ANKRD13B: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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 5
endosome 5
nucleus 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ANKRD13B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 22298428
GO:0005768 endosome IEA --
GO:0005769 early endosome IDA,IEA 22298428
GO:0005770 late endosome IEA,IDA 22298428
GO:0005886 plasma membrane IEA,IDA 22298428
genes like me logo Genes that share ontologies with ANKRD13B: view

Pathways & Interactions for ANKRD13B Gene

PathCards logo

SuperPathways for ANKRD13B Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKRD13B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002091 negative regulation of receptor internalization IMP 22298428
genes like me logo Genes that share ontologies with ANKRD13B: view

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

Drugs & Compounds for ANKRD13B Gene

No Compound Related Data Available

Transcripts for ANKRD13B Gene

mRNA/cDNA for ANKRD13B Gene

CRISPR Products

Clone 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 CGAP 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

Evidence on tissue expression from TISSUES for ANKRD13B Gene

  • Skin(4.1)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with ANKRD13B: view

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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 32
  • 99.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ANKRD13B 33 32
  • 93.09 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ANKRD13B 33 32
  • 92.75 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ankrd13b 32
  • 90.1 (n)
oppossum
(Monodelphis domestica)
Mammalia ANKRD13B 33
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ankrd13b 17 33 32
  • 89.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ANKRD13B 33
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKRD13B 33 32
  • 83.24 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANKRD13B 33
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ankrd13b 32
  • 75.78 (n)
zebrafish
(Danio rerio)
Actinopterygii ankrd13b 33
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG15118 33
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C18F10.7 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ANKRD13B: view image

Paralogs for ANKRD13B Gene

Paralogs for ANKRD13B Gene

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

  • AN13B_HUMAN
  • K7EKP0_HUMAN
  • K7ENT0_HUMAN
  • Q6P5X6_HUMAN
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 Variation AA Info Type
rs1000108303 -- 29,614,083(+) GGG/GG 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000196818 -- 29,591,122(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000390000 -- 29,611,391(+) G/A intron_variant
rs1000467550 -- 29,599,485(+) A/G intron_variant
rs1000622021 -- 29,605,472(+) G/A intron_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 (Molecular biology of the cell 2012) 3 4 56
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  3. 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 56
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  5. An Interaction Landscape of Ubiquitin Signaling. (PMID: 28190767) Zhang X … Vermeulen M (Molecular cell 2017) 3 56

Products for ANKRD13B Gene

Sources for ANKRD13B Gene