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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, With Or Without Vestibular Involvement and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Gene Ontology (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, dimension, dynamics and signaling capacities of the actin filament-rich microvilli in the mechanosensory and chemosensory cells. Required for the assembly and stabilization of the stereociliary parallel actin bundles. Plays a crucial role in the formation and maintenance of inner ear hair cell stereocilia. Involved in the elongation of actin in stereocilia. In extrastriolar hair cells, required for targeting MYO3B to stereocilia tips, and for regulation of stereocilia diameter and staircase formation.

Gene Wiki entry for ESPN Gene

Additional gene information 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

GeneHancer (GH) Regulatory Elements for ESPN Gene

Promoters and enhancers for ESPN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J006445 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 669.1 +24.2 24220 6.3 ZFP64 ARID4B DMAP1 YY1 SLC30A9 GLIS2 SP3 RXRA SP5 NFYC ESPN ENSG00000231868 PLEKHG5 LOC102724450 RNF207 RPL22 ACOT7 TNFRSF25
GH01J006422 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 679.8 -0.5 -462 3.2 ATF1 SIN3A ZNF2 GLIS2 CBX5 ZNF213 ZNF143 SP3 REST MIER2 ESPN HES2 PHF13 NOL9 LOC102724450 RNF207 RPL22 THAP3 ACOT7 GC01M006398
GH01J006391 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 20.1 -31.5 -31460 2.6 HDGF CLOCK FOXA2 ARNT ZFP64 ARID4B SIN3A SLC30A9 ZNF766 ZNF213 ACOT7 ENSG00000271746 ESPN ZBTB48 THAP3 RPL22 PHF13 NOL9 GC01P006262
GH01J006418 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 25.6 -4.7 -4678 3.2 ATF1 RB1 KLF17 ZNF335 GLIS2 ZFP91 SP3 RXRA REST ZNF148 HES2 ESPN LOC102724450 RNF207 RPL22 ACOT7 GC01M006398
GH01J006357 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 18 -65.3 -65294 4.2 HDGF PKNOX1 FOXA2 ARID4B DMAP1 YY1 SLC30A9 ZNF143 SP5 REST ACOT7 ESPN ICMT LINC00337 ENSG00000271746 GC01P006262
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ESPN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ESPN gene promoter:
  • Max
  • c-Myc
  • LCR-F1
  • AREB6
  • Arnt
  • AhR
  • E47
  • N-Myc
  • Pax-5

Genomic Locations for ESPN Gene

Genomic Locations for ESPN Gene
chr1:6,424,776-6,461,367
(GRCh38/hg38)
Size:
36,592 bases
Orientation:
Plus strand
chr1:6,484,848-6,521,430
(GRCh37/hg19)
Size:
36,583 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-terminus) with BAIAP2 (via SH3-domain). Interacts with PFN2. Interacts with MYO3A (via C-terminus). Interacts with MYO3B (via C-terminus).

    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

No data available for DME Specific Peptides for ESPN Gene

Domains & Families for ESPN Gene

Gene Families for ESPN Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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, dimension, dynamics and signaling capacities of the actin filament-rich microvilli in the mechanosensory and chemosensory cells. Required for the assembly and stabilization of the stereociliary parallel actin bundles. Plays a crucial role in the formation and maintenance of inner ear hair cell stereocilia. Involved in the elongation of actin in stereocilia. In extrastriolar hair cells, required for targeting MYO3B to stereocilia tips, and for regulation of stereocilia diameter and staircase formation.

Phenotypes From GWAS Catalog for ESPN Gene

Gene Ontology (GO) - Molecular Function for ESPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0017124 SH3 domain binding ISS 12598619
GO:0051015 actin filament binding IEA,ISS 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 Espn<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ESPN

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

Subcellular locations from the

Human Protein Atlas (HPA)

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 IDA --
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 IMP --
GO:0030046 parallel actin filament bundle assembly IDA --
GO:0051017 actin filament bundle assembly IEA,IBA --
GO:0051491 positive regulation of filopodium assembly IGI --
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 2011
Miconazole Approved, Investigational, Vet_approved Pharma Channel blocker, Antagonist, Pore Blocker 3838
Sirolimus Approved, Investigational Pharma Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 2011
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 518
Angiogenesis Inhibitors Pharma 4399
genes like me logo Genes that share compounds with ESPN: view

Transcripts for ESPN Gene

mRNA/cDNA for ESPN Gene

Unigene Clusters for ESPN Gene

Espin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ESPN

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, 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(2.4)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
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

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 33
  • 93.9 (n)
dog
(Canis familiaris)
Mammalia ESPN 34 33
  • 89.62 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Espn 33
  • 83.58 (n)
mouse
(Mus musculus)
Mammalia Espn 16 34 33
  • 82.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ESPN 34
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ESPN 34
  • 77 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ESPN 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves ESPN 34 33
  • 72.04 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia espn 33
  • 61.26 (n)
zebrafish
(Danio rerio)
Actinopterygii espn 34 33
  • 61.34 (n)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta f 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ESPN: view image

Paralogs for ESPN Gene

Paralogs for ESPN Gene

(6) SIMAP similar genes for ESPN Gene using alignment to 4 proteins:

  • ESPN_HUMAN
  • H0Y7L4_HUMAN
  • K7EMB7_HUMAN
  • Q5JYL1_HUMAN

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 Variation AA Info Type
rs115143295 likely-benign, uncertain-significance, not specified, Deafness, autosomal recessive 36, with or without vestibular involvement 6,444,538(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs121908134 pathogenic, Deafness, without vestibular involvement, autosomal dominant, Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006] 6,451,926(+) A/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs121908135 pathogenic, Deafness, without vestibular involvement, autosomal dominant, Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006] 6,452,001(+) G/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs121908136 pathogenic, Deafness, without vestibular involvement, autosomal dominant, Deafness, autosomal recessive, 36, with or without vestibular involvement (DFNB36) [MIM:609006] 6,452,092(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs142638391 benign, likely-benign, not specified, not provided 6,444,594(+) T/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant

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)

Additional Variant Information for ESPN Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ESPN Gene

MalaCards: The human disease database

(10) MalaCards diseases for ESPN Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 36, with or without vestibular involvement
  • dfnb36
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
autosomal recessive nonsyndromic deafness 36
  • deafness, autosomal recessive 36, with or without vestibular involvement
deafness, autosomal recessive 28
  • dfnb28
deafness, autosomal recessive 96
  • dfnb96
- 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, ECO:0000269 PubMed:28281779}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ESPN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Journal of medical genetics 2006) 3 4 22 44 58
  2. Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. (PMID: 15286153) Naz S … Friedman TB (Journal of medical genetics 2004) 2 3 4 22 58
  3. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 44 58
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  5. Targeted wild-type and jerker espins reveal a novel, WH2-domain-dependent way to make actin bundles in cells. (PMID: 16569662) Loomis PA … Bartles JR (Journal of cell science 2006) 3 22 58

Products for ESPN Gene

Sources for ESPN Gene

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