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Aliases for ESPNL Gene

Aliases for ESPNL Gene

  • Espin Like 2 3 5

External Ids for ESPNL Gene

Previous GeneCards Identifiers for ESPNL Gene

  • GC02P238673
  • GC02P239008
  • GC02P230800

Summaries for ESPNL Gene

GeneCards Summary for ESPNL Gene

ESPNL (Espin Like) is a Protein Coding gene. An important paralog of this gene is ESPN.

UniProtKB/Swiss-Prot for ESPNL Gene

  • Binds to but does not cross-link actin. Required for the formation and maintenance of inner ear hair cell stereocilia and staircase formation. Essential for normal hearing.

Additional gene information for ESPNL Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESPNL Gene

Genomics for ESPNL Gene

GeneHancer (GH) Regulatory Elements for ESPNL Gene

Promoters and enhancers for ESPNL 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
GH02I238097 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 579.5 -0.3 -349 5.1 HDGF HNRNPUL1 USF1 MAX DEAF1 RAD21 ZKSCAN1 ZFHX2 GLIS2 ZNF316 ESPNL UBE2F KLHL30 SCLY TWIST2 RBM44 COL6A3 HES6 LOC105373953 LINC01940
GH02I238106 Enhancer 1.3 FANTOM5 Ensembl ENCODE 34.9 +7.8 7755 3.5 HDGF FOXA2 MLX ARID4B DMAP1 IRF4 ZNF48 YY1 ZNF143 ATF7 ESPNL SCLY KLHL30 RAMP1
GH02I238059 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 19.4 -39.0 -39026 2.6 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 SCLY ESPNL TRAF3IP1 ENSG00000227252 UBE2F KLHL30 UBE2F-SCLY
GH02I238127 Enhancer 0.6 Ensembl 68 +28.1 28125 2.6 SRF SAP130 ZNF114 YBX1 ZNF2 ZNF623 SP1 ZNF335 GLIS2 SCRT2 ESPNL KLHL30
GH02I237963 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE 8.7 -133.4 -133382 6.2 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A UBE2F UBE2F-SCLY ILKAP SCLY RAMP1 ESPNL KLHL30 ASB1 HES6 LRRFIP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ESPNL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ESPNL gene promoter:

Genomic Locations for ESPNL Gene

Genomic Locations for ESPNL Gene
chr2:238,100,157-238,133,287
(GRCh38/hg38)
Size:
33,131 bases
Orientation:
Plus strand
chr2:239,008,798-239,041,928
(GRCh37/hg19)

Genomic View for ESPNL Gene

Genes around ESPNL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ESPNL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ESPNL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ESPNL Gene

Proteins for ESPNL Gene

  • Protein details for ESPNL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZVH7-ESPNL_HUMAN
    Recommended name:
    Espin-like protein
    Protein Accession:
    Q6ZVH7
    Secondary Accessions:
    • Q66K27
    • Q6ZVG1
    • Q8IVU2

    Protein attributes for ESPNL Gene

    Size:
    1005 amino acids
    Molecular mass:
    108132 Da
    Quaternary structure:
    • Interacts with MYO3A (via C-terminus). Interacts with MYO3B (via C-terminus).

    Alternative splice isoforms for ESPNL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ESPNL Gene

Post-translational modifications for ESPNL Gene

No Post-translational modifications

Other Protein References for ESPNL Gene

No data available for DME Specific Peptides for ESPNL Gene

Domains & Families for ESPNL Gene

Gene Families for ESPNL Gene

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

Protein Domains for ESPNL Gene

Suggested Antigen Peptide Sequences for ESPNL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ESPNL: view

No data available for UniProtKB/Swiss-Prot for ESPNL Gene

Function for ESPNL Gene

Molecular function for ESPNL Gene

UniProtKB/Swiss-Prot Function:
Binds to but does not cross-link actin. Required for the formation and maintenance of inner ear hair cell stereocilia and staircase formation. Essential for normal hearing.

Phenotypes From GWAS Catalog for ESPNL Gene

Gene Ontology (GO) - Molecular Function for ESPNL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051015 actin filament binding IBA,ISS --
genes like me logo Genes that share ontologies with ESPNL: view
genes like me logo Genes that share phenotypes with ESPNL: view

Animal Models for ESPNL Gene

MGI Knock Outs for ESPNL:

Animal Model Products

miRNA for ESPNL Gene

miRTarBase miRNAs that target ESPNL

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ESPNL Gene

Localization for ESPNL Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESPNL Gene

Cell projection, stereocilium.

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 ESPNL gene
Compartment Confidence
cytosol 3

Gene Ontology (GO) - Cellular Components for ESPNL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0031941 colocalizes_with filamentous actin IBA --
GO:0032420 stereocilium IEA --
GO:0032426 stereocilium tip ISS --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with ESPNL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ESPNL Gene

Pathways & Interactions for ESPNL Gene

SuperPathways for ESPNL Gene

No Data Available

Gene Ontology (GO) - Biological Process for ESPNL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound ISS --
GO:0051017 actin filament bundle assembly IBA --
genes like me logo Genes that share ontologies with ESPNL: view

No data available for Pathways by source and SIGNOR curated interactions for ESPNL Gene

Drugs & Compounds for ESPNL Gene

No Compound Related Data Available

Transcripts for ESPNL Gene

mRNA/cDNA for ESPNL Gene

Unigene Clusters for ESPNL Gene

Espin-like:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ESPNL Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b
SP1: - -
SP2: - - -
SP3: -
SP4:
SP5:

Relevant External Links for ESPNL Gene

GeneLoc Exon Structure for
ESPNL
ECgene alternative splicing isoforms for
ESPNL

Expression for ESPNL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ESPNL Gene

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

This gene is overexpressed in Small Intestine - Terminal Ileum (x5.4) and Brain - Cerebellum (x4.1).

Protein differential expression in normal tissues from HIPED for ESPNL Gene

This gene is overexpressed in Kidney (18.9), Fetal Liver (10.6), Fetal Brain (10.5), Esophagus (7.0), and Breast (6.4).

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



NURSA nuclear receptor signaling pathways regulating expression of ESPNL Gene:

ESPNL

SOURCE GeneReport for Unigene cluster for ESPNL Gene:

Hs.127724

Evidence on tissue expression from TISSUES for ESPNL Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with ESPNL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ESPNL Gene

Orthologs for ESPNL Gene

This gene was present in the common ancestor of animals.

Orthologs for ESPNL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ESPNL 33
  • 94.79 (n)
cow
(Bos Taurus)
Mammalia ESPNL 33 34
  • 83.92 (n)
dog
(Canis familiaris)
Mammalia ESPNL 33
  • 82.83 (n)
rat
(Rattus norvegicus)
Mammalia Espnl 33
  • 80.58 (n)
mouse
(Mus musculus)
Mammalia Espnl 33 16 34
  • 80.36 (n)
oppossum
(Monodelphis domestica)
Mammalia ESPNL 34
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESPNL 34
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ESPNL 34
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC566645 33
  • 56.73 (n)
espnl 34
  • 44 (a)
OneToMany
ESPNL (1 of 2) 34
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK792.4 34
  • 16 (a)
OneToOne
Species where no ortholog for ESPNL 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ESPNL Gene

ENSEMBL:
Gene Tree for ESPNL (if available)
TreeFam:
Gene Tree for ESPNL (if available)

Paralogs for ESPNL Gene

Paralogs for ESPNL Gene

(3) SIMAP similar genes for ESPNL Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for ESPNL Gene

genes like me logo Genes that share paralogs with ESPNL: view

Variants for ESPNL Gene

Sequence variations from dbSNP and Humsavar for ESPNL Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000093965 -- 238,114,893(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000143784 -- 238,109,979(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000145006 -- 238,104,718(+) A/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs1000259275 -- 238,121,211(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000263045 -- 238,116,214(+) A/C genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv2182n106 CNV duplication 24896259
dgv636e201 CNV deletion 23290073
dgv7348n54 CNV loss 21841781
esv1200670 CNV deletion 17803354
esv1409806 CNV deletion 17803354
esv2600790 CNV deletion 19546169
esv26211 CNV gain 19812545
esv2721747 CNV deletion 23290073
esv2721749 CNV deletion 23290073
esv2721750 CNV deletion 23290073
esv29765 CNV loss 19812545
esv3305413 CNV mobile element insertion 20981092
esv3308079 CNV mobile element insertion 20981092
esv3340864 CNV insertion 20981092
esv3352811 CNV duplication 20981092
esv3372375 CNV duplication 20981092
esv3393891 CNV insertion 20981092
esv3450312 CNV insertion 20981092
esv990039 CNV gain 20482838
nsv1000252 CNV loss 25217958
nsv1152631 CNV duplication 26484159
nsv3231 CNV insertion 18451855
nsv433212 CNV loss 18776910
nsv460147 CNV loss 19166990
nsv470525 CNV loss 18288195
nsv508894 CNV insertion 20534489
nsv517412 CNV loss 19592680
nsv518981 CNV loss 19592680
nsv584756 CNV loss 21841781
nsv584757 CNV loss 21841781
nsv584759 CNV loss 21841781
nsv821926 CNV gain 20364138
nsv953215 CNV deletion 24416366

Variation tolerance for ESPNL Gene

Residual Variation Intolerance Score: 99.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.77; 73.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ESPNL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ESPNL

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

Disorders for ESPNL Gene

Additional Disease Information for ESPNL

No disorders were found for ESPNL Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ESPNL Gene

Publications for ESPNL Gene

  1. Stereocilia-staircase spacing is influenced by myosin III motors and their cargos espin-1 and espin-like. (PMID: 26926603) Ebrahim S … Kachar B (Nature communications 2016) 2 3 58
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 58
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58

Products for ESPNL Gene

Sources for ESPNL Gene

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