In humans, the ELAV like RNA binding protein gene family has four members (ELAVL1-4). ELAVL RNA binding proteins recognize AU-rich elements in the 3' UTRs of gene transcripts and thereby regulate gene expression post-transcriptionally. The protein encoded by this gene binds to several 3' UTRs, including its own and also that of FOS, ID, and POU5F1. This gene encodes ELAVL2 and,... 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 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

  • In humans, the ELAV like RNA binding protein gene family has four members (ELAVL1-4). ELAVL RNA binding proteins recognize AU-rich elements in the 3' UTRs of gene transcripts and thereby regulate gene expression post-transcriptionally. The protein encoded by this gene binds to several 3' UTRs, including its own and also that of FOS, ID, and POU5F1. This gene encodes ELAVL2 and, like ELAVL3 and ELAVL4, is expressed specifically in neurons and primarily localizes to the cytoplasm. This protein also forms a cytosolic complex with the normally nuclear-localized ELAVL1 protein. Alternative splicing of this gene results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Jul 2020]

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 mRNA Splicing - Major Pathway and Gene Expression. 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

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 250.3 +25.0 25000 3.2 SP1 ZNF600 ZNF580 ZIC2 POLR2A ZBTB10 YY1 FEZF1 ZNF639 ZNF341 ENSG00000287843 LOC105375992 lnc-IZUMO3-2 ELAVL2 lnc-DMRTA1-27
GH09J023820 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 250.3 +29.0 28995 3.2 POLR2A ZIC2 ZBTB10 ZNF341 SIN3A KLF9 ZNF610 SP2 YY1 KLF16 lnc-DMRTA1-27 ELAVL2 ENSG00000231460 lnc-IZUMO3-2
GH09J023848 Promoter/Enhancer 1.5 EPDnew ENCODE CraniofacialAtlas 250.7 +0.3 271 2.7 ZNF600 ZNF341 KLF7 SIN3A SP2 ZNF843 KLF16 BHLHE40 ZNF2 ELF1 ELAVL2 LOC105375993 lnc-DMRTA1-5 ENSG00000231460
GH09J023778 Enhancer 0.6 ENCODE 11.5 +71.6 71597 1.6 PRDM6 ZNF362 ZNF18 TRIM28 KLF1 EGR2 ZNF680 PRDM10 ZFHX2 PRDM1 ENSG00000231460 ELAVL2 lnc-DMRTA1-27 lnc-IZUMO3-2 lnc-DMRTA1-3
GH09J023772 Enhancer 0.5 Ensembl ENCODE 11.4 +77.8 77800 2 ATF2 JUND 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

Latest Assembly
chr9:23,690,099-23,850,601
(GRCh38/hg38)
Size:
160,503 bases
Orientation:
Minus strand

Previous Assembly
chr9:23,690,102-23,850,599
(GRCh37/hg19 by Entrez Gene)
Size:
160,498 bases
Orientation:
Minus strand

chr9:23,690,102-23,826,335
(GRCh37/hg19 by Ensembl)
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

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

miRNA for ELAVL2 Gene

miRTarBase miRNAs that target ELAVL2

Inhibitory RNAs for research

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

Clone products for research

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

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

Inhibitory RNAs for research

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

Clone products for research

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(2.7)
  • Kidney(2.5)
  • Intestine(2.4)
  • Muscle(2.3)
  • Skin(2.3)
genes like me logo Genes that share expression patterns with ELAVL2: view

Primer products for research

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 29 30
  • 99.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ELAVL2 29 30
  • 97.68 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC100296271 29
  • 97.59 (n)
ELAVL2 30
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Elavl2 29 16 30
  • 95.2 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Elavl2 29
  • 95.17 (n)
Oppossum
(Monodelphis domestica)
Mammalia ELAVL2 30
  • 92 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ELAVL2 30
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ELAVL2 29 30
  • 89.11 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ELAVL2 30
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia elavl2 29
  • 83.72 (n)
Str.19223 29
African clawed frog
(Xenopus laevis)
Amphibia elavl2-A-prov 29
Zebrafish
(Danio rerio)
Actinopterygii elavl2 29 30
  • 76.72 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009952 29
  • 61.35 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta fne 29 30 31
  • 60.62 (n)
ManyToMany
Rbp9 30
  • 49 (a)
ManyToMany
EG:132E8.1 31
  • 47 (a)
elav 30 31
  • 39 (a)
ManyToMany
CG5213 30 31
  • 34 (a)
ManyToMany
Sxl 30 31
  • 29 (a)
ManyToMany
ssx 30
  • 26 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea exc-7 30 31
  • 41 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9670 30
  • 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
Alliance of Genome Resources:
Additional Orthologs for ELAVL2

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
rs1587324233 Uncertain Significance: not provided 23,701,435(-) G/C
NM_004432.5(ELAVL2):c.657C>G (p.Tyr219Ter)
NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ELAVL2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
ELAVL2

SNP Genotyping and Copy Number Assays for research

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

Disorders for ELAVL2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for ELAVL2 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ELAVL2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 22
  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
  3. A Bayesian approach to genetic association studies with family-based designs. (PMID: 20818722) Naylor MG … Lange C (Genetic epidemiology 2010) 3 40
  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 40
  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