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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.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESPNL Gene

Genomics for ESPNL Gene

Regulatory Elements for ESPNL Gene

Enhancers for ESPNL Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ESPNL on UCSC Golden Path with GeneCards custom track

Genomic Location for ESPNL Gene

Chromosome:
2
Start:
238,100,157 bp from pter
End:
238,133,287 bp from pter
Size:
33,131 bases
Orientation:
Plus strand

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:
    No Data Available

    Alternative splice isoforms for ESPNL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ESPNL Gene

Proteomics data for ESPNL Gene at MOPED

Post-translational modifications for ESPNL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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

Q6ZVH7

UniProtKB/Swiss-Prot:

ESPNL_HUMAN :
  • Contains 9 ANK repeats.
Similarity:
  • Contains 9 ANK repeats.
genes like me logo Genes that share domains with ESPNL: view

Function for ESPNL Gene

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

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

Localization for ESPNL Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ESPNL Gene COMPARTMENTS Subcellular localization image for ESPNL gene
Compartment Confidence
cytosol 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for ESPNL Gene

Pathways & Interactions for ESPNL Gene

SuperPathways for ESPNL Gene

No Data Available

Gene Ontology (GO) - Biological Process for ESPNL Gene

None

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

Unigene Clusters for ESPNL Gene

Espin-like:
Representative Sequences:

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 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



SOURCE GeneReport for Unigene cluster for ESPNL Gene Hs.127724

genes like me logo Genes that share expression patterns with ESPNL: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia ESPNL 35
  • 83.92 (n)
  • 80.04 (a)
ESPNL 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ESPNL 35
  • 82.83 (n)
  • 79 (a)
mouse
(Mus musculus)
Mammalia Espnl 35
  • 80.36 (n)
  • 79.86 (a)
Espnl 16
Espnl 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ESPNL 35
  • 94.79 (n)
  • 93.99 (a)
rat
(Rattus norvegicus)
Mammalia Espnl 35
  • 80.58 (n)
  • 79.48 (a)
oppossum
(Monodelphis domestica)
Mammalia ESPNL 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESPNL 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ESPNL 36
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC566645 35
  • 56.73 (n)
  • 53.36 (a)
espnl 36
  • 44 (a)
OneToMany
ESPNL (1 of 2) 36
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK792.4 36
  • 16 (a)
OneToOne
Species with no ortholog for ESPNL:
  • 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 Sequence Context AA Info Type
rs34046909 - 238,104,670(+) CCGGC(A/G)GACAC reference, missense
rs13033248 - 238,130,416(+) CCTCA(A/G)TCCCA reference, missense
rs13006204 - 238,130,434(+) AGCCC(A/G/T)CAGGG reference, missense
rs4663845 - 238,130,996(+) GACAG(C/G/T)GGCCT reference, missense
rs10172220 - 238,131,200(+) CCGGC(A/G)GCCCC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv876062 CNV Loss 21882294
nsv508894 CNV Insertion 20534489
dgv4460n71 CNV Loss 21882294
nsv518981 CNV Loss 19592680
nsv470525 CNV Loss 18288195
nsv821926 CNV Gain 20364138
esv29765 CNV Loss 19812545
esv1409806 CNV Deletion 17803354
esv1200670 CNV Deletion 17803354
esv269690 CNV Insertion 20981092
esv272353 CNV Insertion 20981092
dgv4461n71 CNV Loss 21882294
nsv517412 CNV Loss 19592680
nsv433212 CNV Loss 18776910
nsv460147 CNV Loss 19166990
esv26211 CNV Gain 19812545
esv990039 CNV Gain 20482838
esv2721747 CNV Deletion 23290073
dgv679e201 CNV Deletion 23290073
esv2721749 CNV Deletion 23290073
esv2721750 CNV Deletion 23290073
nsv3231 CNV Insertion 18451855
esv2600790 CNV Deletion 19546169

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)

Relevant External Links for ESPNL Gene

HapMap Linkage Disequilibrium report
ESPNL

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

Disorders for ESPNL Gene

Relevant External Links for ESPNL

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 2 3 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for ESPNL Gene

Sources for ESPNL Gene

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