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LRRTM2 leucine rich repeat transmembrane neuronal 2 [ Homo sapiens (human) ]

Gene ID: 26045, updated on 5-Mar-2024

Summary

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Official Symbol
LRRTM2provided by HGNC
Official Full Name
leucine rich repeat transmembrane neuronal 2provided by HGNC
Primary source
HGNC:HGNC:19409
See related
Ensembl:ENSG00000146006 MIM:610868; AllianceGenome:HGNC:19409
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
Summary
Predicted to enable neurexin family protein binding activity. Predicted to be involved in regulation of postsynaptic density assembly. Predicted to act upstream of or within several processes, including long-term synaptic potentiation; negative regulation of receptor internalization; and positive regulation of synapse assembly. Is active in GABA-ergic synapse. Is integral component of postsynaptic specialization membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 12.7), placenta (RPKM 1.4) and 2 other tissues See more
Orthologs
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Genomic context

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Location:
5q31.2
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (138868921..138875335, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (139395050..139401453, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (138204610..138211024, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:137976937-137977490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:137977491-137978044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:137986181-137986979 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138001425-138001925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16402 Neighboring gene Sharpr-MPRA regulatory region 9755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23215 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:138089147-138089714 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:138089715-138090281 Neighboring gene CTNNA1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23216 Neighboring gene catenin alpha 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138164188-138164688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138188550-138189082 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:138279886-138280098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138284538-138285402 Neighboring gene uncharacterized LOC124901079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138289067-138290004 Neighboring gene SIL1 nucleotide exchange factor Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:138346233-138346880 Neighboring gene uncharacterized LOC124901080 Neighboring gene RNA, 5S ribosomal pseudogene 194

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. Structural insights into modulation and selectivity of transsynaptic neurexin-LRRTM interaction. Yamagata A, et al. Nat Commun, 2018 Sep 27. PMID 30262834, Free PMC Article
  2. Bidirectional transcription from human LRRTM2/CTNNA1 and LRRTM1/CTNNA2 gene loci leads to expression of N-terminally truncated CTNNA1 and CTNNA2 isoforms. Kask M, et al. Biochem Biophys Res Commun, 2011 Jul 22. PMID 21708131
  3. Proteomic Analysis of Unbounded Cellular Compartments: Synaptic Clefts. Loh KH, et al. Cell, 2016 Aug 25. PMID 27565350, Free PMC Article
  4. A novel gene family encoding leucine-rich repeat transmembrane proteins differentially expressed in the nervous system. Laurén J, et al. Genomics, 2003 Apr. PMID 12676565
  5. Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis. Graubert TA, et al. PLoS One, 2009. PMID 19240791, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The Nrxn1beta-LRRTM2 interface involves Ca(2+)-mediated interactions and overlaps with the Nrxn-neuroligin interface.
    Title: Structural insights into modulation and selectivity of transsynaptic neurexin-LRRTM interaction.
  2. CTNNA1 and CTNNA2 contain alternative 5' exons linked to bidirectional promoters that are shared with the antisense oriented LRRTM2 and LRRTM1 genes, respectively.
    Title: Bidirectional transcription from human LRRTM2/CTNNA1 and LRRTM1/CTNNA2 gene loci leads to expression of N-terminally truncated CTNNA1 and CTNNA2 isoforms.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ52416, FLJ76283, FLJ99831

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables neurexin family protein binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in long-term synaptic potentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of receptor internalization IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of synapse assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of postsynaptic density assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in synapse organization IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in GABA-ergic synapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in GABA-ergic synapse IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
  
located_in excitatory synapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in hippocampal mossy fiber to CA3 synapse IEA
Inferred from Electronic Annotation
more info
  
located_in postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in postsynaptic specialization membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in postsynaptic specialization membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
leucine-rich repeat transmembrane neuronal protein 2
Names
leucine-rich repeat neuronal 2 protein
leucine-rich repeat transmembrane neuronal 2 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_015564.3 → NP_056379.1  leucine-rich repeat transmembrane neuronal protein 2 precursor

    See identical proteins and their annotated locations for NP_056379.1

    Status: VALIDATED

    Source sequence(s)
    AB007876, AC011405, DA400927
    Consensus CDS
    CCDS47272.1
    UniProtKB/Swiss-Prot
    A0AVL3, A8K4U9, B7ZLN8, O43300, Q7L770
    Related
    ENSP00000274711.5, ENST00000274711.7
    Conserved Domains (3) summary
    TIGR00864
    Location:284 → 351
    PCC; polycystin cation channel protein
    COG4886
    Location:65 → 312
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:66 → 86
    LRR_RI; leucine-rich repeat [structural motif]

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    138868921..138875335 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    139395050..139401453 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43300.3 GenPept UniProtKB/Swiss-Prot:O43300

Gene LinkOut

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

Chemical Information
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