Aliases for ANKS4B Gene

Aliases for ANKS4B Gene

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

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. Diseases associated with ANKS4B include Usher Syndrome and Usher Syndrome, Type I. An important paralog of this gene is USH1G.

UniProtKB/Swiss-Prot Summary 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).

Additional gene information for ANKS4B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKS4B Gene

Genomics for ANKS4B Gene

GeneHancer (GH) Regulatory Elements for ANKS4B Gene

Promoters and enhancers for ANKS4B Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J021232 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 750.6 +0.7 699 3.1 LCORL FOXA1 MLX RBPJ NR2F1 NR2F6 ATF1 CREB1 MIXL1 RAD21 ANKS4B lnc-CRYM-1 LOC105371123
GH16J021260 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas 11.6 +29.2 29206 5.8 ZBTB40 ZBTB6 FOXA1 MLX RBPJ SMARCE1 NR2F1 NR2F6 ATF1 CREB1 lnc-ZP2-3 CRYM THUMPD1 NPIPB4 NPIPB3 ANKS4B DNAH3 TMEM159 ZP2 SMG1P4
GH16J021184 Enhancer 0.3 Ensembl ENCODE 11 -48.8 -48794 1 TMEM159 DNAH3 ANKS4B ENSG00000262983
GH16J021246 Enhancer 0.5 Ensembl 0.4 +13.3 13306 1.6 PRDM1 GATAD2A TEAD1 NFIL3 SMAD4 RARA NR2F6 LOC105371123 ANKS4B lnc-ZP2-3 CRYM
GH16J021244 Enhancer 0.2 CraniofacialAtlas 0.4 +11.1 11085 0.2 LOC105371123 CRYM ANKS4B lnc-ZP2-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANKS4B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANKS4B gene promoter:
  • CREB
  • deltaCREB
  • RFX1

Genomic Locations for ANKS4B Gene

Genomic Locations for ANKS4B Gene
20,156 bases
Plus strand
18,765 bases
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:
    Recommended name:
    Ankyrin repeat and SAM domain-containing protein 4B
    Protein Accession:

    Protein attributes for ANKS4B Gene

    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).
    • Sequence=BAC04707.1; Type=Erroneous termination; Positions=418; Note=Translated as stop.; Evidence={ECO:0000305};

neXtProt entry for ANKS4B Gene

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

Gene Families for ANKS4B Gene

Suggested Antigen Peptide Sequences for ANKS4B Gene

GenScript: Design optimal peptide antigens:
  • Harmonin-interacting ankyrin repeat-containing protein (ANS4B_HUMAN)
genes like me logo Genes that share domains with ANKS4B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ANKS4B Gene

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).

Phenotypes From GWAS Catalog for ANKS4B Gene

Gene Ontology (GO) - Molecular Function for ANKS4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24947832
genes like me logo Genes that share ontologies with ANKS4B: view

Phenotypes for ANKS4B Gene

MGI mutant phenotypes for ANKS4B:
inferred from 1 alleles
GenomeRNAi human phenotypes for ANKS4B:
genes like me logo Genes that share phenotypes with ANKS4B: view

Animal Models for ANKS4B Gene

MGI Knock Outs for ANKS4B:
  • Anks4b Anks4b<tm2a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for ANKS4B Gene

miRTarBase miRNAs that target ANKS4B

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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

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 ANKS4B gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANKS4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA,ISS --
GO:0005886 plasma membrane IEA --
GO:0005902 microvillus IEA,IDA 26812018
GO:0005903 brush border IDA,IEA 26812018
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with ANKS4B: view

Pathways & Interactions for ANKS4B Gene

PathCards logo

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:0034622 cellular protein-containing complex assembly IMP 26812018
GO:0034976 response to endoplasmic reticulum stress ISS,IEA --
GO:1904106 protein localization to microvillus IMP 26812018
GO:1904970 brush border assembly IMP 26812018
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 :
(3) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for ANKS4B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ANKS4B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for ANKS4B Gene

Protein tissue co-expression partners for ANKS4B Gene

NURSA nuclear receptor signaling pathways regulating expression of ANKS4B Gene:


SOURCE GeneReport for Unigene cluster for ANKS4B Gene:


mRNA Expression by UniProt/SwissProt for ANKS4B Gene:

Tissue specificity: Expressed in kidney and small intestine.

Evidence on tissue expression from TISSUES for ANKS4B Gene

  • Liver(4.2)
genes like me logo Genes that share expression patterns with ANKS4B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia ANKS4B 33 32
  • 99.2 (n)
(Bos Taurus)
Mammalia ANKS4B 33 32
  • 87.7 (n)
(Canis familiaris)
Mammalia ANKS4B 33 32
  • 86.33 (n)
(Rattus norvegicus)
Mammalia Anks4b 32
  • 83.41 (n)
(Mus musculus)
Mammalia Anks4b 17 33 32
  • 83.33 (n)
(Monodelphis domestica)
Mammalia ANKS4B 33
  • 72 (a)
(Ornithorhynchus anatinus)
Mammalia ANKS4B 33
  • 65 (a)
(Gallus gallus)
Aves ANKS4B 33 32
  • 62.71 (n)
(Anolis carolinensis)
Reptilia -- 33
  • 51 (a)
-- 33
  • 49 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia anks4b 32
  • 58.75 (n)
(Danio rerio)
Actinopterygii anks4b 33 32
  • 57.43 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3924 32
fruit fly
(Drosophila melanogaster)
Insecta Sans 33
  • 27 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 38 (a)
Species where no ortholog for ANKS4B 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)
  • 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

Gene Tree for ANKS4B (if available)
Gene Tree for ANKS4B (if available)
Evolutionary constrained regions (ECRs) for ANKS4B: view image

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 Variation AA Info Type
rs1000115582 -- 21,249,582(+) G/A intron_variant
rs1000584447 -- 21,235,720(+) C/G intron_variant
rs1000873649 -- 21,236,966(+) T/C intron_variant
rs1000928051 -- 21,248,286(+) G/T intron_variant
rs1000928439 -- 21,242,355(+) T/C intron_variant

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

Variant ID Type Subtype PubMed ID
esv3638164 CNV gain 21293372
esv3638165 CNV gain 21293372
nsv436835 CNV insertion 17901297
nsv571623 CNV gain 21841781

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)

Additional Variant Information for ANKS4B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKS4B Gene

Disorders for ANKS4B Gene

MalaCards: The human disease database

(2) MalaCards diseases for ANKS4B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
usher syndrome
  • retinitis pigmentosa-deafness syndrome
usher syndrome, type i
  • ush1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ANKS4B

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

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

Publications for ANKS4B Gene

  1. ANKS4B Is Essential for Intermicrovillar Adhesion Complex Formation. (PMID: 26812018) Crawley SW … Tyska MJ (Developmental cell 2016) 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. 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 (Human molecular genetics 2003) 3 4 56
  4. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. (PMID: 29513927) Tomkins JE … Manzoni C (Proteomics 2018) 3 56
  5. Mechanistic Basis of Organization of the Harmonin/USH1C-Mediated Brush Border Microvilli Tip-Link Complex. (PMID: 26812017) Li J … Zhang M (Developmental cell 2016) 4 56

Products for ANKS4B Gene

Sources for ANKS4B Gene