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

Gene ID: 100130742, updated on 8-Mar-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, Apr 2022]
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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Location:
8q21.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (91102619..91219257)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (92227544..92344194)
105.20220307 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)

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

  • MGC104559

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in 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_2023_10

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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