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

    Gene ID: 140825, updated on 27-Nov-2024

    Summary

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    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
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    Genomic context

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    See NEURL2 in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (45888634..45891208, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (47625128..47627706, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44517273..44519847, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene zinc finger SWIM-type containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44514972-44515472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44515473-44515973 Neighboring gene zinc finger SWIM-type containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44519312-44520021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17954 Neighboring gene spermatogenesis associated 25 Neighboring gene cathepsin A Neighboring gene ReSE screen-validated silencer GRCh37_chr20:44531171-44531366 Neighboring gene phospholipid transfer protein Neighboring gene Sharpr-MPRA regulatory region 14031 Neighboring gene Sharpr-MPRA regulatory region 10402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44561248-44561940 Neighboring gene pre-mRNA-splicing factor cwc22-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17955 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44562632-44563323 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44563324-44564014 Neighboring gene phosphorylated CTD interacting factor 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Ozz; a new name on the long list of beta-catenin's nemeses. Wu G, et al. Mol Cell, 2004 Feb 27. PMID 14992713
    2. A high-throughput genome-wide RNAi screen identifies modifiers of survival motor neuron protein. McCormack NM, et al. Cell Rep, 2021 May 11. PMID 33979606, Free PMC Article
    3. Neuralized-2: expression in human and rodents and interaction with Delta-like ligands. Rullinkov G, et al. Biochem Biophys Res Commun, 2009 Nov 20. PMID 19723503
    4. Biophysical and functional study of CRL5(Ozz), a muscle specific ubiquitin ligase complex. Campos Y, et al. Sci Rep, 2022 May 12. PMID 35551201, Free PMC Article
    5. Candidate-gene testing for orphan limb-girdle muscular dystrophies. Aurino S, et al. Acta Myol, 2008 Dec. PMID 19472918, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Candidate-gene testing for orphan limb-girdle muscular dystrophies.
    Submit: New GeneRIF Correction

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC125934, MGC125935

    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

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    Preferred Names
    neuralized-like protein 2
    Names
    neuralized homolog 2

    NCBI Reference Sequences (RefSeq)

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    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

    1. NG_033108.1 RefSeqGene

      Range
      5080..7654
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      45888634..45891208 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      47625128..47627706 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BR09.1 GenPept UniProtKB/Swiss-Prot:Q9BR09

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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