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    LRRC66 leucine rich repeat containing 66 [ Homo sapiens (human) ]

    Gene ID: 339977, updated on 27-Nov-2024

    Summary

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    Official Symbol
    LRRC66provided by HGNC
    Official Full Name
    leucine rich repeat containing 66provided by HGNC
    Primary source
    HGNC:HGNC:34299
    See related
    Ensembl:ENSG00000188993 AllianceGenome:HGNC:34299
    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
    Summary
    This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. [provided by RefSeq, Apr 2017]
    Expression
    Biased expression in duodenum (RPKM 4.6), small intestine (RPKM 4.1) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRC66 in Genome Data Viewer
    Location:
    4q12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (51993652..52020363, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (55479597..55506301, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (52859818..52886529, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene defective in cullin neddylation 1 domain containing 4 Neighboring gene deoxyuridine triphosphatase pseudogene 7 Neighboring gene ribosomal protein L37a pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21552 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15421 Neighboring gene sarcoglycan beta Neighboring gene long intergenic non-protein coding RNA 2480

    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. Polymorphisms in the HSF2, LRRC6, MEIG1 and PTIP genes correlate with sperm motility in idiopathic infertility. Gupta N, et al. Andrologia, 2022 Oct. PMID 35768906
    2. Yeast Two-Hybrid Screening for Proteins that Interact with the Extracellular Domain of Amyloid Precursor Protein. Yu Y, et al. Neurosci Bull, 2016 Apr. PMID 26960425, Free PMC Article
    3. TNIP2 is a Hub Protein in the NF-κB Network with Both Protein and RNA Mediated Interactions. Banks CA, et al. Mol Cell Proteomics, 2016 Nov. PMID 27609421, Free PMC Article
    4. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Polymorphisms in the HSF2, LRRC6, MEIG1 and PTIP genes correlate with sperm motility in idiopathic infertility.
      Title: Polymorphisms in the HSF2, LRRC6, MEIG1 and PTIP genes correlate with sperm motility in idiopathic infertility.
    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

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 66

    NCBI Reference Sequences (RefSeq)

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    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

    1. NG_053164.1 RefSeqGene

      Range
      4949..31660
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001024611.3 → NP_001019782.1  leucine-rich repeat-containing protein 66 precursor

      See identical proteins and their annotated locations for NP_001019782.1

      Status: REVIEWED

      Source sequence(s)
      AC093858, BU620718, CA436716, CR749811
      Consensus CDS
      CCDS43229.1
      UniProtKB/Swiss-Prot
      Q68CR7
      Related
      ENSP00000508002.1, ENST00000682860.1
      Conserved Domains (3) summary
      cd00116
      Location:60 → 255
      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:88 → 110
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:171 → 231
      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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      51993652..52020363 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047415645.1 → XP_047271601.1  leucine-rich repeat-containing protein 66 isoform X2

    2. XM_047415644.1 → XP_047271600.1  leucine-rich repeat-containing protein 66 isoform X1

    3. XM_047415646.1 → XP_047271602.1  leucine-rich repeat-containing protein 66 isoform X3

    4. XM_047415647.1 → XP_047271603.1  leucine-rich repeat-containing protein 66 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      55479597..55506301 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349929.1 → XP_054205904.1  leucine-rich repeat-containing protein 66 isoform X2

    2. XM_054349928.1 → XP_054205903.1  leucine-rich repeat-containing protein 66 isoform X1

    3. XM_054349930.1 → XP_054205905.1  leucine-rich repeat-containing protein 66 isoform X3

    4. XM_054349931.1 → XP_054205906.1  leucine-rich repeat-containing protein 66 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68CR7.1 GenPept UniProtKB/Swiss-Prot:Q68CR7

    Gene LinkOut

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

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