ELAVL2 (ELAV like RNA binding protein 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1993
Gene name Gene Name - the full gene name approved by the HGNC.
ELAV like RNA binding protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ELAVL2
Synonyms (NCBI Gene) Gene synonyms aliases
HEL-N1, HELN1, HUB
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p21.3
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601673 3313 ENSG00000107105
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Anxiety Disorder Anxiety N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Neuroticism Neuroticism N/A N/A GWAS
Show/Hide Text Mining Associations (122)
Associations from Text Mining Disease 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