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Gene Gene information from NCBI Gene database.
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 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 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.
MIM HGNC e!Ensembl
601673 3313 ENSG00000107105
Protein Protein information from UniProt database.
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_1 278 → 348 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
Tissue specificity TISSUE SPECIFICITY: Brain; neural-specific.
Sequence
METQLSNGPTCNNTANGPTTINNNCSSPVDSGNTEDSKTNLIVNYLPQNMTQEELKSLFG
SIGEIESCKLVRDKITGQSLGYGFVNYIDPKDAEKAINTLNGLRLQTKTIK
VSYARPSSA
SIRDANLYVSGLPKTMTQKELEQLFSQYGRIITSRILVDQVTGISRGVGFIRFDKRIEAE
EAIKGLNGQKPPGAT
EPITVKFANNPSQKTNQAILSQLYQSPNRRYPGPLAQQAQRFRLD
NLLNMAYGVKRFSPMTIDGMTSLAGINIPGHPGTGWCIFVYNLAPDADESILWQMFGPFG
AVTNVKVIRDFNTNKCKGFGFVTMTNYDEAAMAIASLNGYRLGDRVLQ
VSFKTNKTHKA
Sequence length 359
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
mRNA Splicing - Major Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (18)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 34446935, 35764056
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUDITORY SYSTEM DISEASE — GWAS catalog 40465716
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — GWAS catalog 35764056
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ELAVL2-related disorder Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (230)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 31612481
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29805592, 30237740, 30920015, 31127628, 31333911, 31423238, 31423239, 31611968
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of rectum Adenocarcinoma Of Rectum BEFREE 31211595
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 30475060
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 30886771
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 31289514, 9988134
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 31698053
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 30946360
★★★★★
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 30158955, 30519354, 31516579, 31572440
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 33506048, 34326892, 34966527, 37549144, 38176925 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only