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Aliases for ELAVL2 Gene

Aliases for ELAVL2 Gene

  • ELAV Like RNA Binding Protein 2 2 3 5
  • ELAV (Embryonic Lethal, Abnormal Vision, Drosophila)-Like 2 (Hu Antigen B) 2 3
  • Nervous System-Specific RNA-Binding Protein Hel-N1 3 4
  • ELAV Like Neuron-Specific RNA Binding Protein 2 2 3
  • Hu-Antigen B 3 4
  • HUB 3 4
  • ELAV (Embryonic Lethal, Abnormal Vision, Drosophila)-Like 2 2
  • ELAV-Like Neuronal Protein 1 Isoform Hel-N2 3
  • ELAV-Like Neuronal Protein 1 4
  • ELAV-Like Protein 2 3
  • Hu Antigen B 2
  • HEL-N1 3
  • HELN1 3

External Ids for ELAVL2 Gene

Previous GeneCards Identifiers for ELAVL2 Gene

  • GC09M024002
  • GC09M023680
  • GC09M023638

Summaries for ELAVL2 Gene

Entrez Gene Summary for ELAVL2 Gene

  • The protein encoded by this gene is a neural-specific RNA-binding protein that is known to bind to several 3' UTRs, including its own and also that of FOS and ID. The encoded protein may recognize a GAAA motif in the RNA. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

GeneCards Summary for ELAVL2 Gene

ELAVL2 (ELAV Like RNA Binding Protein 2) is a Protein Coding gene. Diseases associated with ELAVL2 include Contagious Pustular Dermatitis. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. GO annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is ELAVL4.

UniProtKB/Swiss-Prot for ELAVL2 Gene

  • Binds RNA. Seems to recognize a GAAA motif. Can bind to its own 3-UTR, the FOS 3-UTR and the ID 3-UTR.

Gene Wiki entry for ELAVL2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELAVL2 Gene

Genomics for ELAVL2 Gene

Regulatory Elements for ELAVL2 Gene

Enhancers for ELAVL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F023778 0.9 Ensembl ENCODE 11.4 +71.7 71703 1.6 KLF1 ZNF362 ZNF680 ZNF335 ZFHX2 PRDM10 PRDM1 TRIM28 EGR2 ZNF18 LOC105375992 ELAVL2 GC09M023765
GH09F023777 0.6 ENCODE 11.4 +73.0 72982 0.8 JUND LOC105375992 ELAVL2 GC09M023765
GH09F023587 0.4 ENCODE 7.5 +263.0 263001 1.0 CTCF RAD21 ELAVL2 SUMO2P2 LOC105369298
GH09F023848 0.8 Ensembl ENCODE 0.8 +0.4 377 2.7 KLF17 ZNF2 ZNF335 GLIS2 ZNF366 SCRT2 KLF7 ZNF391 EGR2 ZNF263 LOC105375992 ELAVL2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ELAVL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ELAVL2 Gene

Chromosome:
9
Start:
23,690,104 bp from pter
End:
23,850,706 bp from pter
Size:
160,603 bases
Orientation:
Minus strand

Genomic View for ELAVL2 Gene

Genes around ELAVL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELAVL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELAVL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELAVL2 Gene

Proteins for ELAVL2 Gene

  • Protein details for ELAVL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12926-ELAV2_HUMAN
    Recommended name:
    ELAV-like protein 2
    Protein Accession:
    Q12926
    Secondary Accessions:
    • D3DRK3
    • Q13235
    • Q59G15
    • Q8NEM4
    • Q9H1Q8

    Protein attributes for ELAVL2 Gene

    Size:
    359 amino acids
    Molecular mass:
    39504 Da
    Quaternary structure:
    • Interacts with IGF2BP1.
    SequenceCaution:
    • Sequence=BAD92531.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ELAVL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ELAVL2 Gene

Post-translational modifications for ELAVL2 Gene

  • Ubiquitination at Lys 209
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ELAVL2 Gene

Domains & Families for ELAVL2 Gene

Gene Families for ELAVL2 Gene

Graphical View of Domain Structure for InterPro Entry

Q12926

UniProtKB/Swiss-Prot:

ELAV2_HUMAN :
  • Contains 3 RRM (RNA recognition motif) domains.
  • Belongs to the RRM elav family.
Domain:
  • Contains 3 RRM (RNA recognition motif) domains.
Family:
  • Belongs to the RRM elav family.
genes like me logo Genes that share domains with ELAVL2: view

Function for ELAVL2 Gene

Molecular function for ELAVL2 Gene

GENATLAS Biochemistry:
Drosophila Elav-like 2 (embryonic,lethal,abnormal vision),neuronal protein 1,expressed in brain,homolog to HEL-N1,shuttling the ERG class of mRNA to the cytoplasm in response to regulatory signals,where they become stabilized,translated or rapidly degraded,required for normal neuronal development in the embryonic CNS
UniProtKB/Swiss-Prot Function:
Binds RNA. Seems to recognize a GAAA motif. Can bind to its own 3-UTR, the FOS 3-UTR and the ID 3-UTR.

Gene Ontology (GO) - Molecular Function for ELAVL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA --
GO:0003730 mRNA 3-UTR binding TAS 8158249
GO:0005515 protein binding IPI 17289661
genes like me logo Genes that share ontologies with ELAVL2: view
genes like me logo Genes that share phenotypes with ELAVL2: view

Animal Model Products

miRNA for ELAVL2 Gene

miRTarBase miRNAs that target ELAVL2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ELAVL2 Gene

Localization for ELAVL2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ELAVL2 Gene COMPARTMENTS Subcellular localization image for ELAVL2 gene
Compartment Confidence
nucleus 4
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ELAVL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with ELAVL2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ELAVL2 Gene

Pathways & Interactions for ELAVL2 Gene

genes like me logo Genes that share pathways with ELAVL2: view

Pathways by source for ELAVL2 Gene

Gene Ontology (GO) - Biological Process for ELAVL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006355 regulation of transcription, DNA-templated TAS 8158249
genes like me logo Genes that share ontologies with ELAVL2: view

No data available for SIGNOR curated interactions for ELAVL2 Gene

Transcripts for ELAVL2 Gene

Unigene Clusters for ELAVL2 Gene

ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ELAVL2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c
SP1: - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - -
SP5: -
SP6: -
SP7: - - -

Relevant External Links for ELAVL2 Gene

GeneLoc Exon Structure for
ELAVL2
ECgene alternative splicing isoforms for
ELAVL2

Expression for ELAVL2 Gene

mRNA expression in normal human tissues for ELAVL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ELAVL2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x8.6), Brain - Anterior cingulate cortex (BA24) (x8.4), Brain - Hypothalamus (x6.4), Brain - Substantia nigra (x4.7), and Brain - Cortex (x4.4).

Protein differential expression in normal tissues from HIPED for ELAVL2 Gene

This gene is overexpressed in Testis (22.0), Fetal Brain (16.3), Brain (10.5), and Ovary (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ELAVL2 Gene



Protein tissue co-expression partners for ELAVL2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ELAVL2 Gene:

ELAVL2

SOURCE GeneReport for Unigene cluster for ELAVL2 Gene:

Hs.166109

mRNA Expression by UniProt/SwissProt for ELAVL2 Gene:

Q12926-ELAV2_HUMAN
Tissue specificity: Brain; neural-specific.
genes like me logo Genes that share expression patterns with ELAVL2: view

Primer Products

Orthologs for ELAVL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ELAVL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ELAVL2 34 35
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia ELAVL2 34 35
  • 97.68 (n)
cow
(Bos Taurus)
Mammalia LOC100296271 34
  • 97.59 (n)
ELAVL2 35
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Elavl2 34 16 35
  • 95.2 (n)
rat
(Rattus norvegicus)
Mammalia Elavl2 34
  • 95.17 (n)
oppossum
(Monodelphis domestica)
Mammalia ELAVL2 35
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELAVL2 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELAVL2 34 35
  • 89.11 (n)
lizard
(Anolis carolinensis)
Reptilia ELAVL2 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elavl2 34
  • 83.72 (n)
Str.19223 34
African clawed frog
(Xenopus laevis)
Amphibia elavl2-A-prov 34
zebrafish
(Danio rerio)
Actinopterygii elavl2 34 35
  • 76.72 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009952 34
  • 61.35 (n)
fruit fly
(Drosophila melanogaster)
Insecta fne 36 34 35
  • 60.62 (n)
elav 36 35
  • 54 (a)
Rbp9 35
  • 49 (a)
ManyToMany
EG:132E8.1 36
  • 47 (a)
Sxl 36 35
  • 47 (a)
CG5213 36 35
  • 38 (a)
ssx 35
  • 26 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea exc-7 36 35
  • 65 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9670 35
  • 54 (a)
OneToMany
Species where no ortholog for ELAVL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for ELAVL2 Gene

ENSEMBL:
Gene Tree for ELAVL2 (if available)
TreeFam:
Gene Tree for ELAVL2 (if available)

Paralogs for ELAVL2 Gene

Variants for ELAVL2 Gene

Sequence variations from dbSNP and Humsavar for ELAVL2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs10117078 -- 23,705,149(+) GCCTC(C/G)GTAAC intron-variant
rs10119773 -- 23,736,402(+) AGCCT(A/G)TATTC intron-variant, upstream-variant-2KB
rs10124237 -- 23,852,643(+) gtttc(A/G)ctgtg intron-variant, upstream-variant-2KB
rs1012608 -- 23,696,298(+) AGGCA(A/G)CGGGT intron-variant
rs1023704 -- 23,704,312(+) GCTTT(G/T)TTAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ELAVL2 Gene

Variant ID Type Subtype PubMed ID
nsv438098 CNV loss 16468122
nsv476861 CNV novel sequence insertion 20440878
nsv510190 OTHER sequence alteration 20534489

Variation tolerance for ELAVL2 Gene

Residual Variation Intolerance Score: 14.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.50; 10.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ELAVL2 Gene

Human Gene Mutation Database (HGMD)
ELAVL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELAVL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELAVL2 Gene

Disorders for ELAVL2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ELAVL2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
contagious pustular dermatitis
  • ecthyma contagiosum
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ELAVL2

Genetic Association Database (GAD)
ELAVL2
Human Genome Epidemiology (HuGE) Navigator
ELAVL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELAVL2
genes like me logo Genes that share disorders with ELAVL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ELAVL2 Gene

Publications for ELAVL2 Gene

  1. Localization of human elav-like neuronal protein 1 (Hel-N1) on chromosome 9p21 by chromosome microdissection polymerase chain reaction and fluorescence in situ hybridization. (PMID: 8812435) Han J. … King P.H. (Genomics 1996) 2 3 22 64
  2. Selection of a subset of mRNAs from combinatorial 3' untranslated region libraries using neuronal RNA-binding protein Hel-N1. (PMID: 7972035) Gao F.B. … Keene J.D. (Proc. Natl. Acad. Sci. U.S.A. 1994) 3 4 22 64
  3. A Bayesian approach to genetic association studies with family-based designs. (PMID: 20818722) Naylor M.G. … Lange C. (Genet. Epidemiol. 2010) 3 46 64
  4. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. (PMID: 19197348) Lowe J.K. … Friedman J.M. (PLoS Genet. 2009) 3 46 64
  5. Molecular composition of IMP1 ribonucleoprotein granules. (PMID: 17289661) Joeson L. … Nielsen F.C. (Mol. Cell. Proteomics 2007) 3 4 64

Products for ELAVL2 Gene

Sources for ELAVL2 Gene

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