Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	140825
Gene name	Neuralized E3 ubiquitin protein ligase 2
Gene symbol	NEURL2
Synonyms (NCBI Gene)	C20orf163OZZOZZ-E3
Chromosome	20
Chromosome location	20q13.12
Summary	This gene encodes a protein that is involved in the regulation of myofibril organization. This protein is likely the adaptor component of the E3 ubiquitin ligase complex in striated muscle, and it regulates the ubiquitin-mediated degradation of beta-caten

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017882	hsa-miR-335-5p	Microarray	18185580
MIRT1181179	hsa-miR-3652	CLIP-seq
MIRT1181180	hsa-miR-3908	CLIP-seq
MIRT1181181	hsa-miR-3926	CLIP-seq
MIRT1181182	hsa-miR-4430	CLIP-seq
MIRT1181183	hsa-miR-4505	CLIP-seq
MIRT1181184	hsa-miR-548s	CLIP-seq
MIRT1181185	hsa-miR-647	CLIP-seq
MIRT1181186	hsa-miR-663b	CLIP-seq
MIRT1181187	hsa-miR-885-3p	CLIP-seq
MIRT1921273	hsa-miR-3194-5p	CLIP-seq
MIRT1181181	hsa-miR-3926	CLIP-seq
MIRT1921274	hsa-miR-4691-3p	CLIP-seq
MIRT1181184	hsa-miR-548s	CLIP-seq
MIRT1921273	hsa-miR-3194-5p	CLIP-seq
MIRT1921274	hsa-miR-4691-3p	CLIP-seq

Show/Hide all (5)

GO ID	Ontology	Definition	Evidence
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0016567	Process	Protein ubiquitination	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA

MIM	HGNC	e!Ensembl
608597	16156	ENSG00000124257

Q9BR09

Protein name

Neuralized-like protein 2

Protein function

Plays an important role in the process of myofiber differentiation and maturation. Probable substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex, which mediates the ubiquitina

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07177	Neuralized	26 → 243	Neuralized	Domain
PF07525	SOCS_box	249 → 284	SOCS box	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed specifically in skeletal and cardiac muscles. {ECO:0000269|PubMed:14960280}.

Sequence

MAAASEPVDSGALWGLERPEPPPTRFHRVHGANIRVDPSGTRATRVESFAHGVCFSREPL
APGQVFLVEIEEKELGWCGHLRLGLTALDPASLAPVPEFSLPDLVNLGHTWVFAITRHHN
RVPREGRPEAEAAAPSRPPTLLVEPYLRIEQFRIPRDRLVGRSRPGLYSHLLDQLYELNV
LPPTARRSRLGVLFCPRPDGTADMHIIINGEDMGPSARGLPAAQPLYAVVDVFASTKSVR
LVQLEYGLPSLQTLCRLVIQRSMVHRLAIDGLHLPKELKDFCKYE

Sequence length

285

Interactions

View interactions

	Reactome
			Neddylation

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)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
GALACTOSIALIDOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Prosthesis Failure	Associate	33979606	★★★★★ ★☆☆☆☆ Found in Text Mining only

NEURL2 (neuralized E3 ubiquitin protein ligase 2)