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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 Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (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

Additional gene information for ELAVL2 Gene

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

Genomics for ELAVL2 Gene

GeneHancer (GH) Regulatory Elements for ELAVL2 Gene

Promoters and enhancers for ELAVL2 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
GH09I023825 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.3 +24.7 24714 1.6 PKNOX1 SIN3A FEZF1 ZNF2 ZNF213 ZNF143 KLF13 SP3 REST TSHZ1 LOC105375992 ELAVL2 GC09M023765
GH09I023821 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.3 +29.1 29105 1.1 KLF17 ZNF76 SIN3A GLI4 ZNF2 ZNF335 GLIS2 EGR2 SP3 ZNF398 ELAVL2 LOC105375992 GC09M023765
GH09I023848 Enhancer 1 Ensembl ENCODE 550.8 +0.4 376 2.7 ZSCAN4 KLF17 SIN3A ZNF2 ZNF335 GLIS2 ZNF366 SCRT2 KLF7 EGR2 ELAVL2 LOC105375993 LOC105375992
GH09I023778 Enhancer 0.8 Ensembl ENCODE 11.5 +71.7 71702 1.6 KLF1 ZNF362 ZNF680 ZNF335 ZFHX2 PRDM6 PRDM10 PRDM1 EGR2 ZNF18 LOC105375992 ELAVL2 GC09M023765
GH09I023587 Enhancer 0.4 ENCODE 7.5 +263.0 263000 1 CTCF EBF1 RAD21 ELAVL2 SUMO2P2 LOC101929563 LOC105369298
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ELAVL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ELAVL2 gene promoter:

Genomic Locations for ELAVL2 Gene

Genomic Locations for ELAVL2 Gene
chr9:23,690,104-23,850,706
(GRCh38/hg38)
Size:
160,603 bases
Orientation:
Minus strand
chr9:23,690,102-23,826,335
(GRCh37/hg19)

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

No data available for DME Specific Peptides for ELAVL2 Gene

Domains & Families for ELAVL2 Gene

Gene Families for ELAVL2 Gene

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

Graphical View of Domain Structure for InterPro Entry

Q12926

UniProtKB/Swiss-Prot:

ELAV2_HUMAN :
  • Belongs to the RRM elav family.
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.

Phenotypes From GWAS Catalog for ELAVL2 Gene

Gene Ontology (GO) - Molecular Function for ELAVL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding HDA,IDA 22658674
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

Clone 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
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 ELAVL2 gene
Compartment Confidence
nucleus 5
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

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

Drugs & Compounds for ELAVL2 Gene

No Compound Related Data Available

Transcripts for ELAVL2 Gene

Unigene Clusters for ELAVL2 Gene

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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for ELAVL2 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with ELAVL2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ELAVL2 Gene

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 33 34
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia ELAVL2 33 34
  • 97.68 (n)
cow
(Bos Taurus)
Mammalia LOC100296271 33
  • 97.59 (n)
ELAVL2 34
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Elavl2 33 16 34
  • 95.2 (n)
rat
(Rattus norvegicus)
Mammalia Elavl2 33
  • 95.17 (n)
oppossum
(Monodelphis domestica)
Mammalia ELAVL2 34
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELAVL2 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELAVL2 33 34
  • 89.11 (n)
lizard
(Anolis carolinensis)
Reptilia ELAVL2 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia elavl2 33
  • 83.72 (n)
Str.19223 33
African clawed frog
(Xenopus laevis)
Amphibia elavl2-A-prov 33
zebrafish
(Danio rerio)
Actinopterygii elavl2 33 34
  • 76.72 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009952 33
  • 61.35 (n)
fruit fly
(Drosophila melanogaster)
Insecta fne 35 33 34
  • 60.62 (n)
elav 35 34
  • 54 (a)
Rbp9 34
  • 49 (a)
ManyToMany
EG:132E8.1 35
  • 47 (a)
Sxl 35 34
  • 47 (a)
CG5213 35 34
  • 38 (a)
ssx 34
  • 26 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea exc-7 35 34
  • 65 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9670 34
  • 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 Variation AA Info Type
rs1000049800 -- 23,700,013(-) TTTTTTT/TTTTTTTT intron_variant
rs1000060893 -- 23,757,146(-) G/A/T genic_upstream_transcript_variant, intron_variant
rs1000063684 -- 23,837,866(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000076823 -- 23,704,584(-) T/A intron_variant
rs1000095254 -- 23,789,312(-) G/A genic_upstream_transcript_variant, intron_variant

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

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

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)

Additional Variant Information 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: HGMD and DISEASES

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

Additional Disease Information for ELAVL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 PH (Genomics 1996) 2 3 22 58
  2. Selection of a subset of mRNAs from combinatorial 3' untranslated region libraries using neuronal RNA-binding protein Hel-N1. (PMID: 7972035) Gao FB … Keene JD (Proceedings of the National Academy of Sciences of the United States of America 1994) 3 4 22 58
  3. A Bayesian approach to genetic association studies with family-based designs. (PMID: 20818722) Naylor MG … Lange C (Genetic epidemiology 2010) 3 44 58
  4. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. (PMID: 19197348) Lowe JK … Friedman JM (PLoS genetics 2009) 3 44 58
  5. Molecular composition of IMP1 ribonucleoprotein granules. (PMID: 17289661) Jønson L … Nielsen FC (Molecular & cellular proteomics : MCP 2007) 3 4 58

Products for ELAVL2 Gene

Sources for ELAVL2 Gene

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