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    LRRC46 leucine rich repeat containing 46 [ Homo sapiens (human) ]

    Gene ID: 90506, updated on 10-Dec-2024

    Summary

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    Official Symbol
    LRRC46provided by HGNC
    Official Full Name
    leucine rich repeat containing 46provided by HGNC
    Primary source
    HGNC:HGNC:25047
    See related
    Ensembl:ENSG00000141294 MIM:620927; AllianceGenome:HGNC:25047
    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
    Expression
    Biased expression in testis (RPKM 25.7) and lung (RPKM 4.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRC46 in Genome Data Viewer
    Location:
    17q21.32
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (47831670..47837719)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (48693443..48699492)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (45909036..45915085)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45885766-45886266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45886267-45886767 Neighboring gene oxysterol binding protein like 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:45899123-45899338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12317 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45907489-45908320 Neighboring gene mitochondrial ribosomal protein L10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45908321-45909150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45914101-45914648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45918111-45918666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12319 Neighboring gene secernin 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:45924483-45925091 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:45931158-45931349 Neighboring gene Sp6 transcription factor Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:45944035-45945234 Neighboring gene CRISPRi-validated cis-regulatory element chr17.3283 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:45963041-45963574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8643 Neighboring gene Sharpr-MPRA regulatory region 4370 Neighboring gene SP2 divergent transcript

    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. Identification of LRRC46 as a novel candidate gene for high myopia. Jiang L, et al. Sci China Life Sci, 2024 Sep. PMID 38874710
    2. LRRC46 Accumulates at the Midpiece of Sperm Flagella and Is Essential for Spermiogenesis and Male Fertility in Mouse. Yin Y, et al. Int J Mol Sci, 2022 Jul 31. PMID 35955660, Free PMC Article
    3. High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy. Hasson SA, et al. Nature, 2013 Dec 12. PMID 24270810, Free PMC Article
    4. A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition. Benslimane Y, et al. Aging Cell, 2021 Apr. PMID 33660365, Free PMC Article
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of LRRC46 as a novel candidate gene for high myopia.
      Title: Identification of LRRC46 as a novel candidate gene for high myopia.
    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

    • FLJ23553, MGC16309

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 46

    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_033413.4 → NP_219481.1  leucine-rich repeat-containing protein 46

      See identical proteins and their annotated locations for NP_219481.1

      Status: VALIDATED

      Source sequence(s)
      AC003665, BC010412, BM663857, DB024018
      Consensus CDS
      CCDS11518.1
      UniProtKB/Swiss-Prot
      A8K9Q0, Q96FV0
      Related
      ENSP00000269025.4, ENST00000269025.9
      Conserved Domains (3) summary
      COG4886
      Location:34 → 142
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      sd00031
      Location:46 → 67
      LRR_1; leucine-rich repeat [structural motif]
      cl26677
      Location:240 → 320
      PRK00708; sec-independent translocase; Provisional

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      47831670..47837719
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      48693443..48699492
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96FV0.1 GenPept UniProtKB/Swiss-Prot:Q96FV0

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
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