ELAVL2 (ELAV like RNA binding protein 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1993
Gene name ELAV like RNA binding protein 2
Gene symbol ELAVL2
Synonyms (NCBI Gene)
HEL-N1HELN1HUB
Chromosome 9
Chromosome location 9p21.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
148
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (148)
miRTarBase ID miRNA Experiments Reference
MIRT024181 hsa-miR-221-3p Sequencing 20371350
MIRT027342 hsa-miR-101-3p Sequencing 20371350
MIRT030264 hsa-miR-26b-5p Sequencing 20371350
MIRT053464 hsa-miR-200c-3p Microarray 23807165
MIRT558167 hsa-miR-375 PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (8)
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IEA
GO:0003730 Function MRNA 3'-UTR binding IEA
GO:0003730 Function MRNA 3'-UTR binding TAS 8158249
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601673 3313 ENSG00000107105
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q12926
Protein name ELAV-like protein 2 (ELAV-like neuronal protein 1) (Hu-antigen B) (HuB) (Nervous system-specific RNA-binding protein Hel-N1)
Protein 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). {ECO:0000250|UniPro
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 41 → 111 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 127 → 195 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 278 → 348 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Brain; neural-specific.
Sequence 
METQLSNGPTCNNTANGPTTINNNCSSPVDSGNTEDSKTNLIVNYLPQNMTQEELKSLFG
SIGEIESCKLVRDKITGQSLGYGFVNYIDPKDAEKAINTLNGLRLQTKTIKVSYARPSSA
SIRDANLYVSGLPKTMTQKELEQLFSQYGRIITSRILVDQVTGISRGVGFIRFDKRIEAE
EAIKGLNGQKPPGATEPITVKFANNPSQKTNQAILSQLYQSPNRRYPGPLAQQAQRFRLD
NLLNMAYGVKRFSPMTIDGMTSLAGINIPGHPGTGWCIFVYNLAPDADESILWQMFGPFG
AVTNVKVIRDFNTNKCKGFGFVTMTNYDEAAMAIASLNGYRLGDRVLQVSFKTNKTHKA
Sequence length 359
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    mRNA Splicing - Major Pathway
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ELAVL2-related disorder Uncertain significance rs756279278 RCV003418958
Global developmental delay Uncertain significance rs2136018631 RCV001527644
Show/Hide Text Mining Associations (122)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 34975885
Adenocarcinoma of Lung Associate 32669531, 33134373, 34304612, 36249427, 37643778, 39259093
Alzheimer Disease Associate 33506048, 34326892, 34966527, 37549144, 38176925
Aortic Dissection Associate 36818541, 37684281
Aortic Valve Stenosis Associate 37175670
Arthritis Juvenile Associate 34435051
Arthritis Rheumatoid Associate 37773661
Atherosclerosis Associate 37240358
Autism Spectrum Disorder Associate 27260404
Autistic Disorder Associate 27260404