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Aliases for ESPN Gene

Aliases for ESPN Gene

  • Espin 2 3
  • Autosomal Recessive Deafness Type 36 Protein 3 4
  • Ectoplasmic Specialization Protein 3 4
  • DFNB36 3 4
  • Deafness, Autosomal Recessive 36 2
  • LP2654 3

External Ids for ESPN Gene

Previous HGNC Symbols for ESPN Gene

  • DFNB36

Previous GeneCards Identifiers for ESPN Gene

  • GC01P006061
  • GC01P006293
  • GC01P006194
  • GC01P006419
  • GC01P005632

Summaries for ESPN Gene

Entrez Gene Summary for ESPN Gene

  • This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]

GeneCards Summary for ESPN Gene

ESPN (Espin) is a Protein Coding gene. Diseases associated with ESPN include deafness, autosomal recessive 36 and dfnb36 nonsyndromic hearing loss and deafness. GO annotations related to this gene include SH3 domain binding and actin filament binding. An important paralog of this gene is ESPNL.

UniProtKB/Swiss-Prot for ESPN Gene

  • Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimensions, dynamics and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in variouS mechanosensory and chemosensory cells (By similarity).

Gene Wiki entry for ESPN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESPN Gene

Genomics for ESPN Gene

Regulatory Elements for ESPN Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ESPN Gene

Start:
6,424,776 bp from pter
End:
6,461,370 bp from pter
Size:
36,595 bases
Orientation:
Plus strand

Genomic View for ESPN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ESPN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ESPN Gene

Proteins for ESPN Gene

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

    Protein Symbol:
    B1AK53-ESPN_HUMAN
    Recommended name:
    Espin
    Protein Accession:
    B1AK53
    Secondary Accessions:
    • Q6XYB2
    • Q9H0A2
    • Q9Y329

    Protein attributes for ESPN Gene

    Size:
    854 amino acids
    Molecular mass:
    91733 Da
    Quaternary structure:
    • Monomer. Binds F-actin in a Ca(2+)-resistant fashion. Interacts (via N-terminal) with BAIAP2 (via SH3-domain). Interacts with PFN2.

    Alternative splice isoforms for ESPN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ESPN Gene

Proteomics data for ESPN Gene at MOPED

Post-translational modifications for ESPN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ESPN Gene

Antibody Products

No data available for DME Specific Peptides for ESPN Gene

Domains for ESPN Gene

Gene Families for ESPN Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing

Protein Domains for ESPN Gene

Suggested Antigen Peptide Sequences for ESPN Gene

Graphical View of Domain Structure for InterPro Entry

B1AK53

UniProtKB/Swiss-Prot:

ESPN_HUMAN :
  • B1AK53
Domain:
  • The WH2-domain binds actin monomer and mediates actin bundle assembly.
  • Contains 1 WH2 domain.
Similarity:
  • Contains 9 ANK repeats.
genes like me logo Genes that share domains with ESPN: view

Function for ESPN Gene

Molecular function for ESPN Gene

UniProtKB/Swiss-Prot Function:
Multifunctional actin-bundling protein. Plays a major role in regulating the organization, dimensions, dynamics and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in variouS mechanosensory and chemosensory cells (By similarity).

Gene Ontology (GO) - Molecular Function for ESPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding --
GO:0005515 protein binding --
GO:0017124 SH3 domain binding ISS 12598619
GO:0051015 actin filament binding ISS 8799813
genes like me logo Genes that share ontologies with ESPN: view
genes like me logo Genes that share phenotypes with ESPN: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ESPN Gene

Localization for ESPN Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESPN Gene

Cytoplasm, cytoskeleton. Cell projection, stereocilium. Cell projection, microvillus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ESPN Gene COMPARTMENTS Subcellular localization image for ESPN gene
Compartment Confidence
cytoskeleton 4
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for ESPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005903 brush border ISS 9763424
GO:0015629 actin cytoskeleton --
GO:0031941 filamentous actin ISS 8799813
GO:0032420 stereocilium IEA --
genes like me logo Genes that share ontologies with ESPN: view

Pathways for ESPN Gene

SuperPathways for ESPN Gene

No Data Available

Gene Ontology (GO) - Biological Process for ESPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IEA --
GO:0007626 locomotory behavior IEA --
GO:0030046 parallel actin filament bundle assembly IEA --
GO:0051017 actin filament bundle assembly --
GO:0051491 positive regulation of filopodium assembly IEA --
genes like me logo Genes that share ontologies with ESPN: view

No data available for Pathways by source for ESPN Gene

Transcripts for ESPN Gene

mRNA/cDNA for ESPN Gene

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

Unigene Clusters for ESPN Gene

Espin:
Representative Sequences:

Inhibitory RNA Products

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

Primer Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for ESPN Gene

GeneLoc Exon Structure for
ESPN
ECgene alternative splicing isoforms for
ESPN

Expression for ESPN Gene

mRNA expression in normal human tissues for ESPN Gene

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

This gene is overexpressed in Testis (9.7), Liver (6.7), Kidney - Cortex (5.9), Cervix - Endocervix (4.3), and Skin - Not Sun Exposed (Suprapubic) (4.0).

Protein differential expression in normal tissues for ESPN Gene

This gene is overexpressed in Testis (36.9) and Ovary (24.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ESPN Gene

SOURCE GeneReport for Unigene cluster for ESPN Gene Hs.744222

genes like me logo Genes that share expressions with ESPN: view

Expression partners for ESPN Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ESPN Gene

Orthologs for ESPN Gene

This gene was present in the common ancestor of animals.

Orthologs for ESPN Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia ESPN 35
  • 89.62 (n)
  • 91.54 (a)
ESPN 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Espn 35
  • 82.95 (n)
  • 82.95 (a)
Espn 16
Espn 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ESPN 35
  • 93.9 (n)
  • 92.34 (a)
rat
(Rattus norvegicus)
Mammalia Espn 35
  • 83.58 (n)
  • 83.78 (a)
cow
(Bos Taurus)
Mammalia ESPN 36
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ESPN 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESPN 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves ESPN 35
  • 72.04 (n)
  • 69.71 (a)
ESPN 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia espn 35
  • 61.26 (n)
  • 64.86 (a)
zebrafish
(Danio rerio)
Actinopterygii espn 35
  • 61.34 (n)
  • 59.63 (a)
espn 36
  • 23 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta f 36
  • 8 (a)
OneToOne
Species with no ortholog for ESPN:
  • 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)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for ESPN Gene

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

Paralogs for ESPN Gene

Paralogs for ESPN Gene

Selected SIMAP similar genes for ESPN Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for ESPN Gene

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

Variants for ESPN Gene

Sequence variations from dbSNP and Humsavar for ESPN Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs932402 -- 6,423,523(-) CCAGG(C/T)CAGAT upstream-variant-2KB
rs1318338 -- 6,447,772(-) AGAGG(A/G)GGCCT intron-variant
rs1810437 -- 6,447,784(-) CTGAC(C/T)GTGGG intron-variant
rs2003072 -- 6,428,898(+) CCCAG(A/G)CCCCC intron-variant
rs2006010 -- 6,436,997(-) GGCTG(A/G/T)GGGGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv871698 CNV Loss 21882294
dgv119n71 CNV Loss 21882294
dgv122n71 CNV Loss 21882294
dgv125n71 CNV Loss 21882294
dgv2n27 CNV Loss 19166990
nsv508836 CNV Insertion 20534489
esv25412 CNV Gain+Loss 19812545
nsv871453 CNV Loss 21882294
nsv871719 CNV Loss 21882294
nsv7880 CNV Gain+Loss 18304495
nsv482179 CNV Gain 20164927
nsv831536 CNV Loss 17160897
dgv9n67 CNV Gain 20364138
nsv470690 CNV Gain 18288195
nsv870465 CNV Loss 21882294
dgv126n71 CNV Loss 21882294
dgv127n71 CNV Loss 21882294
nsv470691 CNV Loss 18288195

Relevant External Links for ESPN Gene

HapMap Linkage Disequilibrium report
ESPN
Human Gene Mutation Database (HGMD)
ESPN

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

Disorders for ESPN Gene

(1) OMIM Diseases for ESPN Gene (606351)

UniProtKB/Swiss-Prot

ESPN_HUMAN
  • Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB36 is characterized by prelingual, profound hearing loss, and vestibular areflexia in some patients. {ECO:0000269 PubMed:15286153, ECO:0000269 PubMed:15930085}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ESPN Gene

Relevant External Links for ESPN

Genetic Association Database (GAD)
ESPN
Human Genome Epidemiology (HuGE) Navigator
ESPN
genes like me logo Genes that share disorders with ESPN: view

No data available for Novoseek inferred disease relationships and Genatlas for ESPN Gene

Publications for ESPN Gene

  1. Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. (PMID: 15286153) Naz S. … Friedman T.B. (J. Med. Genet. 2004) 2 3 4 23
  2. Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. (PMID: 15930085) Donaudy F. … Gasparini P. (J. Med. Genet. 2006) 3 4 23 48
  3. The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins. (PMID: 10975527) Zheng L. … Bartles J.R. (Cell 2000) 2 3
  4. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4
  5. Targeted wild-type and jerker espins reveal a novel, WH2-domain-dependent way to make actin bundles in cells. (PMID: 16569662) Loomis P.A. … Bartles J.R. (J. Cell. Sci. 2006) 3 23

Products for ESPN Gene

Sources for ESPN Gene

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