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

Gene ID: 114659, updated on 5-Mar-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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
17q11.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (32007383..32053487)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (32953260..32999369)
105.20220307 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. Genomic context of paralogous recombination hotspots mediating recurrent NF1 region microdeletion. Forbes SH, et al. Genes Chromosomes Cancer, 2004 Sep. PMID 15236313
  2. Evolutionary dynamism of the primate LRRC37 gene family. Giannuzzi G, et al. Genome Res, 2013 Jan. PMID 23064749, Free PMC Article
  3. 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
  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. RNF135 mutations are not present in patients with Sotos syndrome-like features. Visser R, et al. Am J Med Genet A, 2009 Feb 15. PMID 19291764

See all (15) 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)

Genotypes

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_2023_10

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

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