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

Gene ID: 388886, updated on 5-Mar-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
Summary
Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in prostate (RPKM 10.6), thyroid (RPKM 8.8) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (24585635..24593073, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (25047236..25054674, complement)
105.20220307 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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • MGC131773

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_2023_10

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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