Human Gene ESPN (ENST00000636330.1) from GENCODE V44
  Description: espin (from HGNC ESPN)
RefSeq Summary (NM_031475): 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: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000636330.1
Gencode Gene: ENSG00000187017.18
Transcript (Including UTRs)
   Position: hg38 chr1:6,424,788-6,456,671 Size: 31,884 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg38 chr1:6,424,956-6,456,197 Size: 31,242 Coding Exon Count: 11 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsOther NamesGeneReviews
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr1:6,424,788-6,456,671)mRNA (may differ from genome)Protein (1362 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold

-  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 -89.60168-0.533 Picture PostScript Text
3' UTR -200.80474-0.424 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.

-  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    

-  Descriptions from all associated GenBank mRNAs
  AL136880 - Homo sapiens mRNA; cDNA DKFZp434A196 (from clone DKFZp434A196).
JD216480 - Sequence 197504 from Patent EP1572962.
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.
AL834172 - Homo sapiens mRNA; cDNA DKFZp434G2126 (from clone DKFZp434G2126).
AY203958 - Homo sapiens LP2654 mRNA, complete cds.
AF134401 - Homo sapiens putative espin mRNA, partial cds.

-  Other Names for This Gene
  Alternate Gene Symbols: A0A1B0GUN9, AL136880, uc285fzc.1
UCSC ID: ENST00000636330.1
RefSeq Accession: NM_031475

-  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.