NEURL2 neuralized E3 ubiquitin protein ligase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NEURL2provided by HGNC
Official Full Name: neuralized E3 ubiquitin protein ligase 2provided by HGNC
Primary source: HGNC:HGNC:16156
See related: Ensembl:ENSG00000124257 MIM:608597; AllianceGenome:HGNC:16156
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OZZ; OZZ-E3; C20orf163
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-catenin during myogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013]
Expression: Ubiquitous expression in kidney (RPKM 2.2), ovary (RPKM 2.0) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 20q13.12

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (45888634..45891208, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (47625128..47627706, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (44517273..44519847, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Candidate-gene testing for orphan limb-girdle muscular dystrophies.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

NoName (e-PCR)
- UniSTS:486478

NoName (e-PCR)
- UniSTS:481953

G64282 (e-PCR)
- UniSTS:158662

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

Go to the top of the page Help

Preferred Names: neuralized-like protein 2

Names: neuralized homolog 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_033108.1 RefSeqGene

Range

5080..7654

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001278535.2 → NP_001265464.1 neuralized-like protein 2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK054821, AW298115

UniProtKB/Swiss-Prot

Q9BR09

Conserved Domains (1) summary

cd12887
Location:25 → 242

SPRY_NHR_like; SPRY domain in neuralized homology repeat
NM_080749.4 → NP_542787.1 neuralized-like protein 2 isoform 1

See identical proteins and their annotated locations for NP_542787.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AK054821, HY058356

Consensus CDS

CCDS13384.1

UniProtKB/Swiss-Prot

Q3KR34, Q9BR09

Related

ENSP00000361596.4, ENST00000372518.5

Conserved Domains (2) summary

smart00969
Location:249 → 285

SOCS_box; The SOCS box acts as a bridge between specific substrate- binding domains and more generic proteins that comprise a large family of E3 ubiquitin protein ligases

cd12887
Location:25 → 242

SPRY_NHR_like; SPRY domain in neuralized homology repeat