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    LRRC69 leucine rich repeat containing 69 [ Homo sapiens (human) ]

    Gene ID: 100130742, updated on 27-Nov-2024

    Summary

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    Official Symbol
    LRRC69provided by HGNC
    Official Full Name
    leucine rich repeat containing 69provided by HGNC
    Primary source
    HGNC:HGNC:34303
    See related
    Ensembl:ENSG00000214954 AllianceGenome:HGNC:34303
    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
    Summary
    Predicted to be involved in signal transduction. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 1.3), lymph node (RPKM 0.4) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRC69 in Genome Data Viewer
    Location:
    8q21.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (91102619..91219257)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (92227544..92344194)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (92114847..92231485)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27614 Neighboring gene OTUD6B antisense RNA 1 (head to head) Neighboring gene OTU deubiquitinase 6B Neighboring gene MPRA-validated peak7106 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:92209377-92209886 Neighboring gene ceruloplasmin pseudogene Neighboring gene microRNA 4661 Neighboring gene solute carrier family 26 member 7 Neighboring gene uncharacterized LOC105375637 Neighboring gene NANOG hESC enhancer GRCh37_chr8:92457755-92458322 Neighboring gene small nucleolar RNA U13

    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. A protein-protein interaction map of the TNF-induced NF-κB signal transduction pathway. Van Quickelberghe E, et al. Sci Data, 2018 Dec 18. PMID 30561431, Free PMC Article
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    3. 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
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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

    • MGC104559

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 69

    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_001129890.2 → NP_001123362.1  leucine-rich repeat-containing protein 69 isoform 1

      See identical proteins and their annotated locations for NP_001123362.1

      Status: VALIDATED

      Source sequence(s)
      AC087439, AC104966, AC104967
      UniProtKB/Swiss-Prot
      Q6ZNQ3
      Related
      ENSP00000400803.2, ENST00000448384.3
      Conserved Domains (3) summary
      sd00033
      Location:39 → 61
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:60 → 100
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:37 → 95
      LRR_8; Leucine rich repeat

    2. NM_001354470.2 → NP_001341399.1  leucine-rich repeat-containing protein 69 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC104967, AK097393, AK130865
      Consensus CDS
      CCDS87619.1
      Related
      ENSP00000343221.3, ENST00000343709.7
      Conserved Domains (1) summary
      sd00035
      Location:39 → 66
      LRR_NTF; leucine-rich repeat [structural motif]

    RNA

    1. NR_148895.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC087439, AC104966, AC104967
      Related
      ENST00000520099.5

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      91102619..91219257
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      92227544..92344194
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZNQ3.2 GenPept UniProtKB/Swiss-Prot:Q6ZNQ3

    Gene LinkOut

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

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