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Aliases for ESPN Gene

Aliases for ESPN Gene

  • Espin 2 3 3 5
  • 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 actin binding and SH3 domain 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESPN Gene

Genomics for ESPN Gene

Regulatory Elements for ESPN Gene

Enhancers for ESPN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G006422 1.2 Ensembl ENCODE 29.7 -0.5 -462 3.2 ATF1 SIN3A ZNF2 ZNF121 GLIS2 CBX5 GATA2 ZNF143 FOS ZNF263 ESPN RNF207 LOC102724450 RPL22 ACOT7 HES2 GC01M006398
GH01G006412 1.3 Ensembl ENCODE 26.5 -9.8 -9778 4.3 PKNOX1 FOXA2 MLX ZFP64 SIN3A ARID4B ZNF48 ZNF121 ZNF207 ZNF143 ESPN RNF207 HES3 ICMT LINC00337 PLEKHG5 LOC102724450 RPL22 CHD5 ACOT7
GH01G006418 1.2 Ensembl ENCODE 25.6 -4.7 -4679 3.2 ATF1 RB1 ZFP64 KLF17 ZNF121 GLIS2 GATA2 ZNF680 SP3 MIER1 ESPN PHF13 LOC102724450 RNF207 RPL22 ACOT7 HES2 GC01M006398
GH01G006299 1.6 FANTOM5 ENCODE dbSUPER 19 -123.3 -123340 4.5 HDGF PKNOX1 CREB3L1 ARID4B DMAP1 ZNF2 YY1 ZNF143 SP3 SP5 ESPN ACOT7 ZBTB48 PLEKHG5 GPR153 HES2 THAP3 NPHP4 GC01P006262 ENSG00000271746
GH01G006357 1.6 Ensembl ENCODE dbSUPER 18 -65.3 -65294 4.2 HDGF PKNOX1 CREB3L1 ARID4B DMAP1 YY1 SLC30A9 ZNF143 SP3 SP5 ESPN LINC00337 ICMT ACOT7 ENSG00000271746 GC01P006262
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ESPN on UCSC Golden Path with GeneCards custom track

Genomic Location for ESPN Gene

Chromosome:
1
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

Genes around ESPN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ESPN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for ESPN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for ESPN

No data available for DME Specific Peptides for ESPN Gene

Domains & Families for ESPN Gene

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 :
  • The WH2-domain binds actin monomer and mediates actin bundle assembly.
Domain:
  • The WH2-domain binds actin monomer and mediates actin bundle assembly.
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:0017124 SH3 domain binding ISS 12598619
GO:0051015 actin filament binding ISS,IEA 8799813
genes like me logo Genes that share ontologies with ESPN: view
genes like me logo Genes that share phenotypes with ESPN: view

Human Phenotype Ontology for ESPN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ESPN Gene

MGI Knock Outs for ESPN:
  • Espn tm1a(EUCOMM)Wtsi

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ESPN

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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
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 ESPN gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 3

Gene Ontology (GO) - Cellular Components for ESPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005856 cytoskeleton IEA --
GO:0005902 microvillus IEA --
GO:0005903 brush border ISS 9763424
GO:0015629 actin cytoskeleton IEA --
genes like me logo Genes that share ontologies with ESPN: view

Pathways & Interactions 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 IBA,IEA --
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 and SIGNOR curated interactions for ESPN Gene

Drugs & Compounds for ESPN Gene

(11) Drugs for ESPN Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Everolimus Approved Pharma mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1940
Miconazole Approved, Investigational, Vet_approved Pharma Antagonist, Pore Blocker 3706
Sirolimus Approved, Investigational Pharma Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1940
Sunitinib Approved, Investigational Pharma VEGFR/PDGFRβ/ KIT/ FLT3/RET/CSF-1R inhibitor, RTK inhibitor, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors, Potent VEGFR, PDGFRbeta and KIT inhibitor 510
Angiogenesis Inhibitors Pharma 4257
genes like me logo Genes that share compounds with ESPN: view

Transcripts for ESPN Gene

mRNA/cDNA for ESPN Gene

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

Unigene Clusters for ESPN Gene

Espin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ESPN

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for ESPN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Testis (x9.7), Liver (x6.7), Kidney - Cortex (x5.9), Cervix - Endocervix (x4.3), and Skin - Not Sun Exposed (Suprapubic) (x4.0).

Protein differential expression in normal tissues from HIPED for ESPN Gene

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

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



Protein tissue co-expression partners for ESPN Gene

NURSA nuclear receptor signaling pathways regulating expression of ESPN Gene:

ESPN

SOURCE GeneReport for Unigene cluster for ESPN Gene:

Hs.744222

Evidence on tissue expression from TISSUES for ESPN Gene

  • Kidney(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ESPN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ESPN: view

Primer Products

No data available for 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
chimpanzee
(Pan troglodytes)
Mammalia ESPN 34
  • 93.9 (n)
dog
(Canis familiaris)
Mammalia ESPN 34 35
  • 89.62 (n)
rat
(Rattus norvegicus)
Mammalia Espn 34
  • 83.58 (n)
mouse
(Mus musculus)
Mammalia Espn 34 16 35
  • 82.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ESPN 35
  • 79 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ESPN 35
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ESPN 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves ESPN 34 35
  • 72.04 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia espn 34
  • 61.26 (n)
zebrafish
(Danio rerio)
Actinopterygii espn 34 35
  • 61.34 (n)
fruit fly
(Drosophila melanogaster)
Insecta f 35
  • 8 (a)
OneToOne
Species where no ortholog for ESPN 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)
  • 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

(6) 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
rs121908134 Pathogenic, Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006] 6,451,926(+) ATGGA(A/C)GCTTG reference, missense
rs121908135 Pathogenic, Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006] 6,452,001(+) CGCAC(A/G/T)ATGAG reference, missense
rs121908136 Pathogenic, Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006] 6,452,092(+) GAGGC(A/G)GAAGG reference, missense
rs115143295 Likely benign 6,444,538(+) AGCAG(C/T)CGGAT nc-transcript-variant, reference, missense
rs143645714 Likely benign 6,444,539(+) GCAGC(C/G/T)GGATT nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv2n27 CNV loss 19166990
dgv80n54 CNV loss 21841781
dgv9n67 CNV gain 20364138
esv25412 CNV gain+loss 19812545
nsv1009548 CNV loss 25217958
nsv1142745 CNV deletion 24896259
nsv470690 CNV gain 18288195
nsv470691 CNV loss 18288195
nsv482179 CNV gain 20164927
nsv508836 CNV insertion 20534489
nsv545240 CNV loss 21841781
nsv545264 CNV loss 21841781
nsv7880 CNV gain+loss 18304495
nsv831536 CNV loss 17160897
nsv954048 CNV deletion 24416366

Variation tolerance for ESPN Gene

Residual Variation Intolerance Score: 46.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.33; 81.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ESPN Gene

Human Gene Mutation Database (HGMD)
ESPN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ESPN

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

Disorders for ESPN Gene

MalaCards: The human disease database

(13) MalaCards diseases for ESPN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 36
  • autosomal recessive nonsyndromic deafness 36
dfnb36 nonsyndromic hearing loss and deafness
  • dfnb 36 nonsyndromic hearing loss and deafness
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
deafness and hereditary hearing loss
  • hereditary hearing loss and deafness
deafness, autosomal recessive 28
  • autosomal recessive nonsyndromic deafness 28
- elite association - COSMIC cancer census association via MalaCards
Search ESPN in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for ESPN

Genetic Association Database (GAD)
ESPN
Human Genome Epidemiology (HuGE) Navigator
ESPN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ESPN
genes like me logo Genes that share disorders with ESPN: view

No data available for Genatlas for ESPN Gene

Publications for ESPN Gene

  1. 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 22 46 64
  2. Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. (PMID: 15286153) Naz S. … Friedman T.B. (J. Med. Genet. 2004) 2 3 4 22 64
  3. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood H.D. … Lan Q. (Occup Environ Med 2009) 3 46 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  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 22 64

Products for ESPN Gene

Sources for ESPN Gene

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