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    LRRC37B leucine rich repeat containing 37B [ Homo sapiens (human) ]

    Gene ID: 114659, updated on 10-Dec-2024

    Summary

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    Official Symbol
    LRRC37Bprovided by HGNC
    Official Full Name
    leucine rich repeat containing 37Bprovided by HGNC
    Primary source
    HGNC:HGNC:29070
    See related
    Ensembl:ENSG00000185158 MIM:616558; AllianceGenome:HGNC:29070
    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
    LRRC37
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 10.5), bone marrow (RPKM 7.6) and 23 other tissues See more
    Orthologs
    all
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    Genomic context

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    See LRRC37B in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (32007383..32053487)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (32953260..32999369)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (30334402..30380506)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene UTP6 small subunit processome component Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12020 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12021 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:30228395-30228986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30243727-30244384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30244385-30245040 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:30264117-30264702 Neighboring gene SUZ12 polycomb repressive complex 2 subunit Neighboring gene RNA, 5S ribosomal pseudogene 437 Neighboring gene SUZ12 PRS4 recombination region Neighboring gene uncharacterized LOC124903972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30333403-30334325 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8417 Neighboring gene NF1-REPc UWA160-1 recombination region Neighboring gene SH3 domain containing GRB2 like 1, endophilin A2 pseudogene 1 Neighboring gene NF1-REPc PRS1 recombination region Neighboring gene NF1-REPc PRS2 recombination region Neighboring gene uncharacterized LOC124903973 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:30410752-30411272 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30412316-30412836 Neighboring gene uncharacterized LOC102724625 Neighboring gene NF1-REPc PRS3 recombination region Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:30428007-30428812 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:30437320-30438144 Neighboring gene WD repeat domain 45B 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. LRRC37B is a human modifier of voltage-gated sodium channels and axon excitability in cortical neurons. Libé-Philippot B, et al. Cell, 2023 Dec 21. PMID 38134874, Free PMC Article
    2. Genomic context of paralogous recombination hotspots mediating recurrent NF1 region microdeletion. Forbes SH, et al. Genes Chromosomes Cancer, 2004 Sep. PMID 15236313
    3. Evolutionary dynamism of the primate LRRC37 gene family. Giannuzzi G, et al. Genome Res, 2013 Jan. PMID 23064749, Free PMC Article
    4. Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions. Jenne DE, et al. Am J Hum Genet, 2001 Sep. PMID 11468690, Free PMC Article
    5. Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. Douglas J, et al. Nat Genet, 2007 Aug. PMID 17632510

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LRRC37B is a human modifier of voltage-gated sodium channels and axon excitability in cortical neurons.
      Title: LRRC37B is a human modifier of voltage-gated sodium channels and axon excitability in cortical neurons.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: RNF135 mutations are not present in patients with Sotos syndrome-like features.
    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

    EBI GWAS Catalog

    Description
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    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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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 37B
    Names
    C66 SLIT-like testicular protein

    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_001321350.2 → NP_001308279.1  leucine-rich repeat-containing protein 37B isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents use of an upstream promoter, differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) lacks a predicted signal peptide compared to isoform 1.
      Source sequence(s)
      AC090616, AK299772, AK302740, DB475546
      Consensus CDS
      CCDS82102.1
      UniProtKB/TrEMBL
      B4DSJ3, F5H5K1
      Related
      ENSP00000443345.2, ENST00000543378.7
      Conserved Domains (5) summary
      sd00031
      Location:499 → 522
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:523 → 561
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:500 → 557
      LRR_8; Leucine rich repeat
      pfam14914
      Location:713 → 855
      LRRC37AB_C; LRRC37A/B like protein 1 C-terminal domain
      pfam15779
      Location:213 → 281
      LRRC37; Leucine-rich repeat-containing protein 37 family

    2. NM_052888.3 → NP_443120.2  leucine-rich repeat-containing protein 37B isoform 1 precursor

      See identical proteins and their annotated locations for NP_443120.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1), which contains a predicted signal peptide.
      Source sequence(s)
      AC090616, AK302740
      Consensus CDS
      CCDS32609.1
      UniProtKB/Swiss-Prot
      Q17RC9, Q5YKG6, Q96QE4
      UniProtKB/TrEMBL
      B4DZ43
      Related
      ENSP00000340519.7, ENST00000341671.12
      Conserved Domains (5) summary
      sd00031
      Location:581 → 604
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:605 → 643
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:582 → 639
      LRR_8; Leucine rich repeat
      pfam14914
      Location:795 → 937
      LRRC37AB_C; LRRC37A/B like protein 1 C-terminal domain
      pfam15779
      Location:295 → 363
      LRRC37; Leucine-rich repeat-containing protein 37 family

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      32007383..32053487
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      32953260..32999369
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96QE4.3 GenPept UniProtKB/Swiss-Prot:Q96QE4

    Gene LinkOut

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

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