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Gene: ESPN (espin) Homo sapiens
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Symbol: ESPN
Name: espin
Description: Predicted to have SH3 domain binding activity and actin filament binding activity. Predicted to be involved in actin filament bundle assembly. Predicted to colocalize with the filamentous actin. Implicated in autosomal recessive nonsyndromic deafness 36.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: autosomal recessive deafness type 36 protein; deafness, autosomal recessive 36; DFNB36; DKFZp434A196; DKFZp434G2126; ectoplasmic specialization protein; LP2654; USH1M
Orthologs:
Mus musculus (house mouse) : Espn (espin)  MGI  Alliance
Rattus norvegicus (Norway rat) : Espn (espin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Espn (espin)
Pan paniscus (bonobo/pygmy chimpanzee) : ESPN (espin)
Canis lupus familiaris (dog) : ESPN (espin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Espn (espin)
Sus scrofa (pig) : ESPN (espin)
Chlorocebus sabaeus (African green monkey) : ESPN (espin)
Heterocephalus glaber (naked mole-rat) : Espn (espin)
more info ...
Related Pseudogenes: ESPNP  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl16,424,776 - 6,461,367 (+)EnsemblGRCh38hg38GRCh38
GRCh3816,424,776 - 6,461,367 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3716,484,836 - 6,521,004 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3616,407,435 - 6,443,591 (+)NCBINCBI36hg18NCBI36
Build 3416,419,113 - 6,455,255NCBI
Celera15,599,359 - 5,635,452 (+)NCBI
Cytogenetic Map1p36.31NCBI
HuRef15,632,355 - 5,668,547 (+)NCBIHuRef
CHM1_116,473,408 - 6,509,542 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ESPN
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 731924
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.