Human Gene ESPN (ENST00000461727.6) from GENCODE V44
  Description: 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). (from UniProt B1AK53)
RefSeq Summary (NM_001367473): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000461727.6
Gencode Gene: ENSG00000187017.18
Transcript (Including UTRs)
   Position: hg38 chr1:6,448,043-6,460,399 Size: 12,357 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg38 chr1:6,448,785-6,460,146 Size: 11,362 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr1:6,448,043-6,460,399)mRNA (may differ from genome)Protein (288 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Espin; AltName: Full=Autosomal recessive deafness type 36 protein; AltName: Full=Ectoplasmic specialization protein;
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).
SUBUNIT: Monomer (By similarity). Binds F-actin in a Ca(2+)- resistant fashion (By similarity). Interacts (via N-terminal) with BAIAP2 (via SH3-domain) (By similarity). Interacts with PFN2 (By similarity).
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity). Cell projection, stereocilium (By similarity). Cell projection, microvillus (By similarity).
DOMAIN: The WH2-domain binds actin monomer and mediates actin bundle assembly (By similarity).
DISEASE: Defects in ESPN are the cause of deafness autosomal recessive type 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.
SIMILARITY: Contains 9 ANK repeats.
SIMILARITY: Contains 1 WH2 domain.

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  MalaCards Disease Associations
  MalaCards Gene Search: ESPN
Diseases sorted by gene-association score: deafness, autosomal recessive 36* (1248), dfnb36 nonsyndromic hearing loss and deafness* (100), autosomal recessive non-syndromic sensorineural deafness type dfnb* (50), deafness, autosomal recessive 28 (12), deafness, autosomal recessive (10), deafness, autosomal recessive 96 (10), deafness, autosomal recessive 30 (7), deafness, autosomal recessive 67 (6), autosomal dominant nonsyndromic deafness 20 (4), nonsyndromic deafness (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 56.88 RPKM in Testis
Total median expression: 201.51 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -102.20219-0.467 Picture PostScript Text
3' UTR -88.40253-0.349 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR003124 - WH2_dom

Pfam Domains:
PF00023 - Ankyrin repeat
PF12796 - Ankyrin repeats (3 copies)
PF02205 - WH2 motif

ModBase Predicted Comparative 3D Structure on B1AK53
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0017124 SH3 domain binding
GO:0051015 actin filament binding

Biological Process:
GO:0007605 sensory perception of sound
GO:0051017 actin filament bundle assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005902 microvillus
GO:0005903 brush border
GO:0031941 filamentous actin
GO:0032420 stereocilium
GO:0032426 stereocilium tip
GO:0042995 cell projection

-  Descriptions from all associated GenBank mRNAs
  AL136880 - Homo sapiens mRNA; cDNA DKFZp434A196 (from clone DKFZp434A196).
BC156375 - Synthetic construct Homo sapiens clone IMAGE:100062593, MGC:190580 espin (ESPN) mRNA, encodes complete protein.
BC172457 - Synthetic construct Homo sapiens clone IMAGE:100069151, MGC:199162 espin (ESPN) mRNA, encodes complete protein.
AY203958 - Homo sapiens LP2654 mRNA, complete cds.
AF134401 - Homo sapiens putative espin mRNA, partial cds.
JD046296 - Sequence 27320 from Patent EP1572962.
JD240558 - Sequence 221582 from Patent EP1572962.
JD371539 - Sequence 352563 from Patent EP1572962.
JD210849 - Sequence 191873 from Patent EP1572962.
JD107209 - Sequence 88233 from Patent EP1572962.
JD069218 - Sequence 50242 from Patent EP1572962.
JD069219 - Sequence 50243 from Patent EP1572962.
JD173369 - Sequence 154393 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AY203958, B1AK53, DFNB36, ENST00000461727.1, ENST00000461727.2, ENST00000461727.3, ENST00000461727.4, ENST00000461727.5, ESPN_HUMAN, LP2654, Q6XYB2, Q9H0A2, Q9Y329, uc001amz.1, uc001amz.2, uc001amz.3, uc001amz.4, uc001amz.5
UCSC ID: ENST00000461727.6
RefSeq Accession: NM_001367473
Protein: B1AK53 (aka ESPN_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ESPN:
deafness-overview (Genetic Hearing Loss Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.