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Aliases for ANKS4B Gene

Aliases for ANKS4B Gene

  • Ankyrin Repeat And Sterile Alpha Motif Domain Containing 4B 2 3
  • HARP 3 4 6
  • Harmonin-Interacting Ankyrin Repeat-Containing Protein 3 4
  • Harmonin-Interacting Ankyrin-Repeat Containing Protein 3
  • Ankyrin Repeat And SAM Domain-Containing Protein 4B 3
  • FLJ38819 6

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 maturity-onset diabetes of the young and usher syndrome.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , 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

Genomic Location for ANKS4B Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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
    Secondary Accessions:

    Protein attributes for ANKS4B Gene

    Size:
    417 amino acids
    Molecular mass:
    46597 Da
    Quaternary structure:
    • Interacts through its C-terminus with USH1C PDZ 1 domain.
    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 for ANKS4B Gene

Gene Families for ANKS4B Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing
  • SAMD :Sterile alpha motif (SAM) domain containing

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 :
  • Q8N8V4
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

Gene Ontology (GO) - Molecular Function for ANKS4B Gene

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

Animal Model Products

miRNA for ANKS4B Gene

miRTarBase miRNAs that target ANKS4B

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for ANKS4B Gene

Localization for ANKS4B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANKS4B Gene COMPARTMENTS Subcellular localization image for ANKS4B gene
Compartment Confidence
cytosol 3
plasma membrane 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ANKS4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with ANKS4B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ANKS4B Gene

Pathways 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:0034976 response to endoplasmic reticulum stress IEA --
genes like me logo Genes that share ontologies with ANKS4B: view

No data available for Pathways by source for ANKS4B Gene

Transcripts for ANKS4B Gene

mRNA/cDNA for ANKS4B Gene

(11) Selected AceView cDNA sequences:
(2) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ANKS4B

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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 (16.9), Liver (14.2), Small Intestine - Terminal Ileum (10.5), and Kidney - Cortex (7.2).

Protein differential expression in normal tissues for ANKS4B Gene

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

Integrated Proteomics: protein expression 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 expressions with ANKS4B: view

Expression partners for ANKS4B Gene

In Situ Assay 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

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

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

No data available for Paralogs for ANKS4B Gene

Variants for ANKS4B Gene

Sequence variations from dbSNP and Humsavar for ANKS4B Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs727780 -- 21,236,203(+) GCAAG(C/G)GGGGA intron-variant
rs1012727 -- 21,232,116(+) AGTAT(G/T)TGCTT upstream-variant-2KB
rs2031078 -- 21,244,800(+) ATTAA(A/G)TCAGG intron-variant
rs2031079 -- 21,245,144(+) ATTTC(C/G)CTTGA intron-variant
rs2031080 -- 21,245,606(+) actac(A/G)ggcgc 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

Relevant External Links for ANKS4B Gene

HapMap Linkage Disequilibrium report
ANKS4B

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

Disorders for ANKS4B Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for ANKS4B Gene in MalaCards »

(2) Diseases for ANKS4B Gene including...

(1) University of Copenhagen DISEASES for ANKS4B Gene

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

No data available for OMIM , UniProtKB/Swiss-Prot , Novoseek inferred disease relationships , Genatlas and External Links for ANKS4B Gene

Publications for ANKS4B Gene

  1. 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 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. 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
  4. 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
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4

Products for ANKS4B Gene

Sources for ANKS4B Gene

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