ELAVL4

protein-coding

ELAV like RNA binding protein 4, the group of RNA binding motif containing

Gene summary

Enables mRNA 3'-UTR AU-rich region binding activity; poly(A) binding activity; and pre-mRNA intronic pyrimidine-rich binding activity. Involved in 3'-UTR-mediated mRNA stabilization; RNA processing; and positive regulation of 3'-UTR-mediated mRNA stabilization. Predicted to be located in axon; cytoplasm; and dendrite. Predicted to be part of ribonucleoprotein complex. Predicted to be active in glutamatergic synapse. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

MANE transcript

NM_001144774.3

Inheritance

—

ClinVar variants

U:24

Top phenotype

High myopia

gnomAD constraint

pLI —, LoF o/e 0.12

Max pathogenic AF

—

Genomic locus

chr1:50,024,029-50,203,772

External References & Databases

Ensembl (ENSG00000162374)

Transcript & Mutation Effects

hg38 • Region Span ~179.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ELAVL4 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 22

High myopiaTotal: 1

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001144774.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			24 clinvar			24
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	24	0	0	24

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 53 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001144774.3	RefSeq	NP_001138246.1	7	MANE Select
ENST00000371824.7	Ensembl	ENSP00000360889.2	7	MANE Select
NM_001144775.3	RefSeq	NP_001138247.2	7	Standard
NM_001144776.3	RefSeq	NP_001138248.1	7	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
elavl4	Danio rerio	Structure: motor neuron Quality: decreased length abnormal

Gene / Model

Organism

Observed Phenotype

elavl4

Danio rerio

Structure: motor neuron

Quality: decreased length

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

RNA processing
mRNA processing

Molecular Function

RNA binding
mRNA 3'-UTR binding
AU-rich element binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000357083
Coding exons: 7
Length: 155773
Individuals with no LoFs: 125713
Homozygous LoFs: 0
Heterozygous LoFs: 2
Defined: 125715
p: 0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.85	102	222	0.460	0.0000122	2532
Missense (PolyPhen)		10	62.814	0.1592		748
Synonymous	0.235	83	85.8	0.968	0.00000510	736
Loss of Function	3.31	2	16.5	0.121	7.98e-7	202

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in neuron-specific RNA processing. Protects CDKN1A mRNA from decay by binding to its 3'-UTR (By similarity). Binds to AU-rich sequences (AREs) of target mRNAs, including VEGF and FOS mRNA. {ECO:0000250, ECO:0000269|PubMed:10710437, ECO:0000269|PubMed:7898713}.;

Recessive Scores

pRec: 0.151

Intolerance Scores

LoFtool: 0.122
RVIS EVS: -0.1
RVIS percentile EVS: 46.49

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.739

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium