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Aliases for ANKS4B Gene

Aliases for ANKS4B Gene

  • Ankyrin Repeat And Sterile Alpha Motif Domain Containing 4B 2 3 5
  • Harmonin-Interacting Ankyrin Repeat-Containing Protein 3 4
  • HARP 3 4
  • Harmonin-Interacting Ankyrin-Repeat Containing Protein 3

External Ids for ANKS4B Gene

Previous GeneCards Identifiers for ANKS4B Gene

  • GC16P021153
  • GC16P019780

Summaries for ANKS4B Gene

GeneCards Summary for ANKS4B Gene

ANKS4B (Ankyrin Repeat And Sterile Alpha Motif Domain Containing 4B) is a Protein Coding gene. An important paralog of this gene is USH1G.

UniProtKB/Swiss-Prot for ANKS4B Gene

  • As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length. Plays a role in assembly of the complex (PubMed:26812018). May play a role in cellular response to endoplasmic reticulum stress (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKS4B Gene

Genomics for ANKS4B Gene

Regulatory Elements for ANKS4B Gene

Enhancers for ANKS4B 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 ANKS4B on UCSC Golden Path with GeneCards custom track

Promoters for ANKS4B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ANKS4B on UCSC Golden Path with GeneCards custom track

Genomic Location for ANKS4B Gene

Chromosome:
16
Start:
21,233,665 bp from pter
End:
21,253,845 bp from pter
Size:
20,181 bases
Orientation:
Plus strand

Genomic View for ANKS4B Gene

Genes around ANKS4B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANKS4B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANKS4B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANKS4B Gene

Proteins for ANKS4B Gene

  • Protein details for ANKS4B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N8V4-ANS4B_HUMAN
    Recommended name:
    Ankyrin repeat and SAM domain-containing protein 4B
    Protein Accession:
    Q8N8V4

    Protein attributes for ANKS4B Gene

    Size:
    417 amino acids
    Molecular mass:
    46597 Da
    Quaternary structure:
    • Part of the IMAC/intermicrovillar adhesion complex/intermicrovillar tip-link complex composed of ANKS4B, MYO7B, USH1C, CDHR2 and CDHR5 (PubMed:26812018). Interacts with USH1C; the interaction is direct and is required for ANKS4B localization to the tip of microvilli (PubMed:26812017, PubMed:26812018). Interacts with MYO7B; the interaction is direct (PubMed:26812018). May interact with HSPA5 (By similarity).
    SequenceCaution:
    • Sequence=BAC04707.1; Type=Erroneous termination; Positions=418; Note=Translated as stop.; Evidence={ECO:0000305};

neXtProt entry for ANKS4B Gene

Proteomics data for ANKS4B Gene at MOPED

Post-translational modifications for ANKS4B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ANKS4B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ANKS4B Gene

Domains & Families for ANKS4B Gene

Protein Domains for ANKS4B Gene

Suggested Antigen Peptide Sequences for ANKS4B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N8V4

UniProtKB/Swiss-Prot:

ANS4B_HUMAN :
  • Contains 1 SAM (sterile alpha motif) domain.
  • Contains 3 ANK repeats.
Domain:
  • Contains 1 SAM (sterile alpha motif) domain.
Similarity:
  • Contains 3 ANK repeats.
genes like me logo Genes that share domains with ANKS4B: view

Function for ANKS4B Gene

Molecular function for ANKS4B Gene

UniProtKB/Swiss-Prot Function:
As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length. Plays a role in assembly of the complex (PubMed:26812018). May play a role in cellular response to endoplasmic reticulum stress (By similarity).

Animal Model Products

miRNA for ANKS4B Gene

miRTarBase miRNAs that target ANKS4B

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ANKS4B Gene

Localization for ANKS4B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANKS4B Gene

Cell projection, microvillus. Note=Localizes at the tip of microvilli (PubMed:26812018). May associate with endoplasmic reticulum membranes (By similarity). {ECO:0000250 UniProtKB:Q8K3X6, ECO:0000269 PubMed:26812018}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANKS4B Gene COMPARTMENTS Subcellular localization image for ANKS4B gene
Compartment Confidence
cytosol 3
endoplasmic reticulum 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for ANKS4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005902 microvillus IDA 26812018
genes like me logo Genes that share ontologies with ANKS4B: view

Pathways & Interactions for ANKS4B Gene

SuperPathways for ANKS4B Gene

No Data Available

Gene Ontology (GO) - Biological Process for ANKS4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030154 cell differentiation IEA --
GO:0034976 response to endoplasmic reticulum stress IEA,ISS --
genes like me logo Genes that share ontologies with ANKS4B: view

No data available for Pathways by source and SIGNOR curated interactions for ANKS4B Gene

Drugs & Compounds for ANKS4B Gene

No Compound Related Data Available

Transcripts for ANKS4B Gene

mRNA/cDNA for ANKS4B Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ANKS4B Gene

Ankyrin repeat and sterile alpha motif domain containing 4B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ANKS4B Gene

No ASD Table

Relevant External Links for ANKS4B Gene

GeneLoc Exon Structure for
ANKS4B
ECgene alternative splicing isoforms for
ANKS4B

Expression for ANKS4B Gene

mRNA expression in normal human tissues for ANKS4B Gene

mRNA differential expression in normal tissues according to GTEx for ANKS4B Gene

This gene is overexpressed in Colon - Transverse (x16.9), Liver (x14.2), Small Intestine - Terminal Ileum (x10.5), and Kidney - Cortex (x7.2).

Protein differential expression in normal tissues from HIPED for ANKS4B Gene

This gene is overexpressed in Rectum (32.2) and Fetal gut (28.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ANKS4B Gene



SOURCE GeneReport for Unigene cluster for ANKS4B Gene Hs.115959

mRNA Expression by UniProt/SwissProt for ANKS4B Gene

Q8N8V4-ANS4B_HUMAN
Tissue specificity: Expressed in kidney and small intestine.
genes like me logo Genes that share expression patterns with ANKS4B: view

Protein tissue co-expression partners for ANKS4B Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ANKS4B Gene

Orthologs for ANKS4B Gene

This gene was present in the common ancestor of animals.

Orthologs for ANKS4B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ANKS4B 35
  • 87.7 (n)
  • 86.89 (a)
ANKS4B 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANKS4B 35
  • 86.33 (n)
  • 87.29 (a)
ANKS4B 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Anks4b 35
  • 83.33 (n)
  • 83.17 (a)
Anks4b 16
Anks4b 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ANKS4B 35
  • 99.2 (n)
  • 98.32 (a)
ANKS4B 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Anks4b 35
  • 83.41 (n)
  • 82.21 (a)
oppossum
(Monodelphis domestica)
Mammalia ANKS4B 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ANKS4B 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANKS4B 35
  • 62.71 (n)
  • 58.59 (a)
ANKS4B 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 51 (a)
OneToMany
-- 36
  • 49 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia anks4b 35
  • 58.75 (n)
  • 53.75 (a)
zebrafish
(Danio rerio)
Actinopterygii anks4b 35
  • 57.43 (n)
  • 51.89 (a)
anks4b 36
  • 45 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3924 35
fruit fly
(Drosophila melanogaster)
Insecta Sans 36
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToMany
Species with no ortholog for ANKS4B:
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ANKS4B Gene

ENSEMBL:
Gene Tree for ANKS4B (if available)
TreeFam:
Gene Tree for ANKS4B (if available)

Paralogs for ANKS4B Gene

Paralogs for ANKS4B Gene

(1) SIMAP similar genes for ANKS4B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ANKS4B: view

Variants for ANKS4B Gene

Sequence variations from dbSNP and Humsavar for ANKS4B Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs17707647 -- 21,250,364(+) ATTCT(C/G)AATCG reference, synonymous-codon
rs62044957 -- 21,248,251(+) AATGC(A/C)TGGCC intron-variant
rs7195761 -- 21,248,841(+) aagat(A/G)attca intron-variant
rs11645529 -- 21,248,193(+) TATTT(A/T)AAAAA intron-variant
rs11645535 -- 21,248,228(+) ttatg(G/T)ttccc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANKS4B Gene

Variant ID Type Subtype PubMed ID
nsv436835 CNV Insertion 17901297
nsv905576 CNV Gain 21882294

Variation tolerance for ANKS4B Gene

Residual Variation Intolerance Score: 43.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.49; 43.68% 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 ANKS4B Gene

Disorders for ANKS4B Gene

Relevant External Links for ANKS4B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANKS4B

No disorders were found for ANKS4B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKS4B Gene

Publications for ANKS4B Gene

  1. ANKS4B Is Essential for Intermicrovillar Adhesion Complex Formation. (PMID: 26812018) Crawley S.W. … Tyska M.J. (Dev. Cell 2016) 3 4 67
  2. 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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  4. Harp (harmonin-interacting, ankyrin repeat-containing protein), a novel protein that interacts with harmonin in epithelial tissues. (PMID: 15461667) Johnston A.M. … GA^A+ez L.J. (Genes Cells 2004) 3
  5. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. (PMID: 12588794) Weil D. … Petit C. (Hum. Mol. Genet. 2003) 3

Products for ANKS4B Gene

Sources for ANKS4B Gene

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