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] See more...

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
  • ELAV-Like Protein 2 3 4
  • Hu-Antigen B 3 4
  • HEL-N1 2 3
  • HUB 3 4
  • HuB 2 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
  • Hu Antigen B 2
  • ELAVL2 5
  • 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 Retinitis Pigmentosa 49 and Scalp-Ear-Nipple Syndrome. 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 Summary for ELAVL2 Gene

  • RNA-binding protein that binds to the 3' untranslated region (3'UTR) of target mRNAs (By similarity). Seems to recognize a GAAA motif (By similarity). Can bind to its own 3'UTR, the FOS 3'UTR and the ID 3'UTR (By similarity).

Gene Wiki entry for ELAVL2 Gene

Additional gene information for ELAVL2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ELAVL2 Gene

Genomics for ELAVL2 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH09J023824 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.3 +25.1 25108 3.2 SP1 TEAD4 PRDM10 ZNF629 KDM1A ZNF692 PRDM1 ZNF143 ZIC2 ZSCAN4 ENSG00000287843 LOC105375992 lnc-IZUMO3-2 ELAVL2 lnc-DMRTA1-27
GH09J023820 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 600.3 +29.4 29407 3 PRDM10 ZIC2 PATZ1 POLR2A EZH2 ZNF341 KLF9 SP2 RAD21 ZXDB lnc-DMRTA1-27 ELAVL2 ENSG00000231460 lnc-IZUMO3-2
GH09J023848 Promoter/Enhancer 1.5 EPDnew ENCODE CraniofacialAtlas 600.7 +0.4 378 2.7 PRDM10 PRDM1 ZSCAN4 PATZ1 POLR2A ZNF600 ZNF341 SCRT2 ZBTB20 SP2 ELAVL2 LOC105375993 lnc-DMRTA1-5 ENSG00000231460
GH09J023778 Promoter/Enhancer 0.9 Ensembl ENCODE 11.5 +71.5 71514 2 PRDM10 PRDM1 ZBTB44 ZFHX2 ZNF335 ZNF18 PRDM6 TRIM28 KLF1 EGR2 ENSG00000231460 ELAVL2 lnc-DMRTA1-27 lnc-IZUMO3-2 lnc-DMRTA1-3
GH09J023797 Enhancer 0.4 Ensembl 11.2 +52.4 52407 1 ZSCAN5C MAFF MAFK KLF1 ENSG00000231460 ELAVL2 lnc-DMRTA1-27 lnc-IZUMO3-2 lnc-DMRTA1-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ELAVL2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ELAVL2

Top Transcription factor binding sites by QIAGEN in the ELAVL2 gene promoter:
  • c-Myc
  • CBF(2)
  • CBF-A
  • ER-alpha
  • FAC1
  • FOXD3
  • GATA-1
  • Max1
  • POU2F1
  • POU2F1a

Genomic Locations for ELAVL2 Gene

Genomic Locations for ELAVL2 Gene
chr9:23,690,099-23,850,708
(GRCh38/hg38)
Size:
160,610 bases
Orientation:
Minus strand
chr9:23,690,102-23,826,335
(GRCh37/hg19)
Size:
136,234 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 (PubMed:17289661). Interacts with MAP1B light chain LC1 (By similarity).
    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 Lys209
  • Modification sites at PhosphoSitePlus

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

Protein Domains for ELAVL2 Gene

InterPro:
Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)
  • Paraneoplastic encephalomyelitis antigen family signature
ProtoNet:

Suggested Antigen Peptide Sequences for ELAVL2 Gene

GenScript: Design optimal peptide antigens:
  • ELAV (Embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (B1AM49_HUMAN)
  • Nervous system-specific RNA-binding protein Hel-N1 (ELAV2_HUMAN)

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

UniProtKB/Swiss-Prot Function:
RNA-binding protein that binds to the 3' untranslated region (3'UTR) of target mRNAs (By similarity). Seems to recognize a GAAA motif (By similarity). Can bind to its own 3'UTR, the FOS 3'UTR and the ID 3'UTR (By similarity).
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

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 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

CRISPR Products

miRNA for ELAVL2 Gene

miRTarBase miRNAs that target ELAVL2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
peroxisome 1
golgi apparatus 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 --
GO:1990904 ribonucleoprotein complex IEA --
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

mRNA/cDNA for ELAVL2 Gene

27 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ELAVL2

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

Expression for ELAVL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for ELAVL2 Gene



Protein tissue co-expression partners for ELAVL2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.7)
  • Eye(3)
  • Kidney(2.7)
  • Skin(2.6)
  • Intestine(2.5)
  • Muscle(2.5)
  • Blood(2.2)
  • Heart(2)
  • Thyroid gland(2)
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 30 31
  • 99.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ELAVL2 30 31
  • 97.68 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC100296271 30
  • 97.59 (n)
ELAVL2 31
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Elavl2 30 17 31
  • 95.2 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Elavl2 30
  • 95.17 (n)
Oppossum
(Monodelphis domestica)
Mammalia ELAVL2 31
  • 92 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ELAVL2 31
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ELAVL2 30 31
  • 89.11 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ELAVL2 31
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia elavl2 30
  • 83.72 (n)
Str.19223 30
African clawed frog
(Xenopus laevis)
Amphibia elavl2-A-prov 30
Zebrafish
(Danio rerio)
Actinopterygii elavl2 30 31
  • 76.72 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009952 30
  • 61.35 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta fne 30 31 32
  • 60.62 (n)
ManyToMany
Rbp9 31
  • 49 (a)
ManyToMany
EG:132E8.1 32
  • 47 (a)
elav 31 32
  • 39 (a)
ManyToMany
CG5213 31 32
  • 34 (a)
ManyToMany
Sxl 31 32
  • 29 (a)
ManyToMany
ssx 31
  • 26 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea exc-7 31 32
  • 41 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9670 31
  • 54 (a)
OneToMany
Species where no ortholog for ELAVL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ELAVL2: view image

Paralogs for ELAVL2 Gene

(30) SIMAP similar genes for ELAVL2 Gene using alignment to 4 proteins:

  • ELAV2_HUMAN
  • B1AM48_HUMAN
  • B1AM49_HUMAN
  • C9JB16_HUMAN
genes like me logo Genes that share paralogs with ELAVL2: view

Variants for ELAVL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ELAVL2 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
810364 Uncertain Significance: not provided 23,701,435(-) G/C NONSENSE

Additional dbSNP identifiers (rs#s) for ELAVL2 Gene

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)

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

(7) MalaCards diseases for ELAVL2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 49
  • rp49
scalp-ear-nipple syndrome
  • sens
atrial septal defect 1
  • asd1
cone-rod dystrophy 6
  • retinitis pigmentosa 6
medulloblastoma
  • mdb
- 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
Open Targets Platform
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 23
  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 23
  3. A Bayesian approach to genetic association studies with family-based designs. (PMID: 20818722) Naylor MG … Lange C (Genetic epidemiology 2010) 3 41
  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 41
  5. Molecular composition of IMP1 ribonucleoprotein granules. (PMID: 17289661) Jønson L … Nielsen FC (Molecular & cellular proteomics : MCP 2007) 3 4

Products for ELAVL2 Gene

Sources for ELAVL2 Gene