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    LRRC75B leucine rich repeat containing 75B [ Homo sapiens (human) ]

    Gene ID: 388886, updated on 26-Nov-2024

    Summary

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    Official Symbol
    LRRC75Bprovided by HGNC
    Official Full Name
    leucine rich repeat containing 75Bprovided by HGNC
    Primary source
    HGNC:HGNC:33155
    See related
    Ensembl:ENSG00000178026 AllianceGenome:HGNC:33155
    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
    FAM211B; C22orf36
    Expression
    Broad expression in prostate (RPKM 10.6), thyroid (RPKM 8.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRC75B in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (24585635..24593073, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (25047236..25054674, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24981603..24989040, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene guanylyl cyclase domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24957881-24958382 Neighboring gene small nuclear ribonucleoprotein D3 polypeptide Neighboring gene uncharacterized LOC124905091 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24980432-24980932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24980933-24981433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24987467-24988460 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24988461-24989453 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24990503-24991473 Neighboring gene gamma-glutamyltransferase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24999043-25000008 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:25000009-25000973 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25003664-25004194 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:25008515-25008883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25016763-25017263 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25025816-25026364 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25026365-25026914 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25026915-25027462 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:25027463-25028012 Neighboring gene BCR pseudogene 3 Neighboring gene POM121 transmembrane nucleoporin like 10, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25046823-25047590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:25052870-25053379 Neighboring gene ARL5A pseudogene 4 Neighboring gene ACTR2 pseudogene 1

    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. Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. Yuan X, et al. Am J Hum Genet, 2008 Oct. PMID 18940312, Free PMC Article
    2. Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. Kim YJ, et al. Nat Genet, 2011 Sep 11. PMID 21909109
    3. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
    4. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (8) citations in PubMed

    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

    EBI GWAS Catalog

    Description
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    EBI GWAS Catalog
    Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
    EBI GWAS Catalog

    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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    Homology

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 75B
    Names
    family with sequence similarity 211, member B
    leucine-rich repeat-containing protein C22orf36
    leucine-rich repeat-containing protein FAM211B

    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_207644.3 → NP_997527.2  leucine-rich repeat-containing protein 75B

      See identical proteins and their annotated locations for NP_997527.2

      Status: VALIDATED

      Source sequence(s)
      AP000356, BC032388, BI544432
      Consensus CDS
      CCDS42991.1
      UniProtKB/Swiss-Prot
      Q2VPJ9, Q8N0S9, Q8N8B1
      Related
      ENSP00000320520.8, ENST00000318753.13

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      24585635..24593073 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005261600.4 → XP_005261657.1  leucine-rich repeat-containing protein 75B isoform X2

    2. XM_047441360.1 → XP_047297316.1  leucine-rich repeat-containing protein 75B isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      25047236..25054674 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325606.1 → XP_054181581.1  leucine-rich repeat-containing protein 75B isoform X2

    2. XM_054325605.1 → XP_054181580.1  leucine-rich repeat-containing protein 75B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2VPJ9.1 GenPept UniProtKB/Swiss-Prot:Q2VPJ9

    Gene LinkOut

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

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