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    LRRN4 leucine rich repeat neuronal 4 [ Homo sapiens (human) ]

    Gene ID: 164312, updated on 10-Dec-2024

    Summary

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    Official Symbol
    LRRN4provided by HGNC
    Official Full Name
    leucine rich repeat neuronal 4provided by HGNC
    Primary source
    HGNC:HGNC:16208
    See related
    Ensembl:ENSG00000125872 MIM:619706; AllianceGenome:HGNC:16208
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NLRR4; NLRR-4; C20orf75; dJ1056H1.1
    Summary
    Predicted to be involved in long-term memory. Predicted to act upstream of or within visual learning. Located in extracellular exosome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in lung (RPKM 6.4) and kidney (RPKM 1.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRN4 in Genome Data Viewer
    Location:
    20p12.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (6040546..6054060, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (6080866..6094379, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (6021192..6034706, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene MCM8 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:5986511-5987012 Neighboring gene RNA, 7SL, cytoplasmic 498, pseudogene Neighboring gene Sharpr-MPRA regulatory region 14083 Neighboring gene cardiolipin synthase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:6033043-6033844 Neighboring gene uncharacterized LOC124904865 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12662 Neighboring gene FERM domain containing kindlin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12663

    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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    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Loci at chromosomes 13, 19 and 20 influence age at natural menopause.
    EBI GWAS Catalog

    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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    Homology

    Clone Names

    • FLJ23994, MGC25027

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in long-term memory IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in visual learning IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat neuronal protein 4
    Names
    neuronal leucine-rich repeat protein 4

    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.

    mRNA and Protein(s)

    1. NM_152611.5 → NP_689824.2  leucine-rich repeat neuronal protein 4 precursor

      See identical proteins and their annotated locations for NP_689824.2

      Status: VALIDATED

      Source sequence(s)
      AA464555, AK290123, BC027720, BP252017
      Consensus CDS
      CCDS13097.1
      UniProtKB/Swiss-Prot
      A8K258, Q5JWV6, Q8WUT4, Q9H419
      Related
      ENSP00000368135.4, ENST00000378858.5
      Conserved Domains (6) summary
      PHA03255
      Location:313 → 491
      PHA03255; BDLF3; Provisional
      COG4886
      Location:224 → 311
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00063
      Location:580 → 676
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd00116
      Location:69 → 213
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:77 → 100
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:123 → 178
      LRR_8; Leucine rich 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
      6040546..6054060 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      6080866..6094379 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WUT4.3 GenPept UniProtKB/Swiss-Prot:Q8WUT4

    Gene LinkOut

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

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