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

Gene ID: 90506, updated on 17-Sep-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 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)

Genotypes

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

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