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    LRRC72 leucine rich repeat containing 72 [ Homo sapiens (human) ]

    Gene ID: 100506049, updated on 8-Mar-2024

    Summary

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    Official Symbol
    LRRC72provided by HGNC
    Official Full Name
    leucine rich repeat containing 72provided by HGNC
    Primary source
    HGNC:HGNC:42972
    See related
    Ensembl:ENSG00000205858 AllianceGenome:HGNC:42972
    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
    Also known as
    FAP279; CFAP279
    Expression
    Restricted expression toward testis (RPKM 1.2) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    7p21.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (16526825..16581568)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (16656531..16711287)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (16566450..16621193)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene CDP-L-ribitol pyrophosphorylase A Neighboring gene NANOG hESC enhancer GRCh37_chr7:16254865-16255366 Neighboring gene CRPPA antisense RNA 1 Neighboring gene MPRA-validated peak6411 silencer Neighboring gene uncharacterized LOC105375168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17982 Neighboring gene sclerostin domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:16541518-16542018 Neighboring gene NANOG hESC enhancer GRCh37_chr7:16551577-16552078 Neighboring gene uncharacterized LOC105375169 Neighboring gene ataxin 2 like pseudogene Neighboring gene ankyrin repeat and MYND domain containing 2

    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. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948
    2. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    General gene information

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    Homology

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 72
    Names
    leucine-rich repeat-containing protein ENSP00000371558

    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_001195280.2 → NP_001182209.1  leucine-rich repeat-containing protein 72

      See identical proteins and their annotated locations for NP_001182209.1

      Status: VALIDATED

      Source sequence(s)
      AC005014, AW341438, BF222754, DT932641, DT932642
      Consensus CDS
      CCDS56464.1
      UniProtKB/Swiss-Prot
      A6NJI9
      Related
      ENSP00000384971.2, ENST00000401542.3
      Conserved Domains (3) summary
      sd00031
      Location:49 → 68
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:91 → 128
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:91 → 149
      LRR_8; Leucine rich repeat

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      16526825..16581568
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515057.2 → XP_011513359.1  leucine-rich repeat-containing protein 72 isoform X1

      Conserved Domains (3) summary
      sd00031
      Location:49 → 68
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:91 → 128
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:91 → 149
      LRR_8; Leucine rich repeat

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      16656531..16711287
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356976.1 → XP_054212951.1  leucine-rich repeat-containing protein 72 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NJI9.2 GenPept UniProtKB/Swiss-Prot:A6NJI9

    Gene LinkOut

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

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