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LRRN2 leucine rich repeat neuronal 2 [ Homo sapiens (human) ]

Gene ID: 10446, updated on 23-Nov-2021

Summary

Official Symbol
LRRN2provided by HGNC
Official Full Name
leucine rich repeat neuronal 2provided by HGNC
Primary source
HGNC:HGNC:16914
See related
Ensembl:ENSG00000170382 MIM:605492
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GAC1; LRRN5; LRANK1; FIGLER7
Summary
The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and overexpressed in malignant gliomas. The encoded protein has homology with other proteins that function as cell-adhesion molecules or as signal transduction receptors and is a candidate for the target gene in the 1q32.1 amplicon in malignant gliomas. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in brain (RPKM 5.5), kidney (RPKM 2.6) and 20 other tissues See more
Orthologs
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Genomic context

See LRRN2 in Genome Data Viewer
Location:
1q32.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (204617170..204685836, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (204586298..204654866, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene penta-EF-hand domain containing 1 pseudogene Neighboring gene MDM4 regulator of p53 Neighboring gene uncharacterized LOC105371692 Neighboring gene RNA, 5S ribosomal pseudogene 74 Neighboring gene uncharacterized LOC105371693 Neighboring gene RNA, 5S ribosomal pseudogene 75

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
GeneReviews: Not available
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
GeneReviews: Not available
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
GeneReviews: Not available
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in cell adhesion TAS
Traceable Author Statement
more info
PubMed 
involved_in signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
leucine-rich repeat neuronal protein 2
Names
fibronectin type III, immunoglobulin and leucine rich repeat domain 7
glioma amplified on chromosome 1 protein
leucine rich and ankyrin repeats 1
leucine rich repeat neuronal 5
leucine-rich repeat neuronal protein 5

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_006338.3NP_006329.2  leucine-rich repeat neuronal protein 2 precursor

    See identical proteins and their annotated locations for NP_006329.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AF030435, AL161793, AL512306, BC034047, T08293
    Consensus CDS
    CCDS1448.1
    UniProtKB/Swiss-Prot
    O75325
    UniProtKB/TrEMBL
    A0A024R993
    Related
    ENSP00000356144.3, ENST00000367176.7
    Conserved Domains (7) summary
    cd00116
    Location:62288
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    pfam07679
    Location:430514
    I-set; Immunoglobulin I-set domain
    sd00031
    Location:337360
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:95118
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:117177
    LRR_8; Leucine rich repeat
    cl11960
    Location:438514
    Ig; Immunoglobulin domain
    cl15307
    Location:369412
    TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain
  2. NM_201630.2NP_963924.1  leucine-rich repeat neuronal protein 2 precursor

    See identical proteins and their annotated locations for NP_963924.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AF030435, AL161793, AL512306, BC034047
    Consensus CDS
    CCDS1448.1
    UniProtKB/Swiss-Prot
    O75325
    UniProtKB/TrEMBL
    A0A024R993
    Related
    ENSP00000356145.3, ENST00000367177.4
    Conserved Domains (7) summary
    cd00116
    Location:62288
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    pfam07679
    Location:430514
    I-set; Immunoglobulin I-set domain
    sd00031
    Location:337360
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:95118
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:117177
    LRR_8; Leucine rich repeat
    cl11960
    Location:438514
    Ig; Immunoglobulin domain
    cl15307
    Location:369412
    TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    204617170..204685836 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005244827.3XP_005244884.1  leucine-rich repeat neuronal protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005244884.1

    UniProtKB/Swiss-Prot
    O75325
    UniProtKB/TrEMBL
    A0A024R993
    Conserved Domains (7) summary
    cd00116
    Location:62288
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    pfam07679
    Location:430514
    I-set; Immunoglobulin I-set domain
    sd00031
    Location:337360
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:95118
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:117177
    LRR_8; Leucine rich repeat
    cl11960
    Location:438514
    Ig; Immunoglobulin domain
    cl15307
    Location:369412
    TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain
  2. XM_017000050.2XP_016855539.1  leucine-rich repeat neuronal protein 2 isoform X1

    UniProtKB/Swiss-Prot
    O75325
    UniProtKB/TrEMBL
    A0A024R993
    Conserved Domains (7) summary
    cd00116
    Location:62288
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    pfam07679
    Location:430514
    I-set; Immunoglobulin I-set domain
    sd00031
    Location:337360
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:95118
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:117177
    LRR_8; Leucine rich repeat
    cl11960
    Location:438514
    Ig; Immunoglobulin domain
    cl15307
    Location:369412
    TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain
  3. XM_011509066.2XP_011507368.1  leucine-rich repeat neuronal protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011507368.1

    UniProtKB/Swiss-Prot
    O75325
    UniProtKB/TrEMBL
    A0A024R993
    Related
    ENSP00000356143.1, ENST00000367175.1
    Conserved Domains (7) summary
    cd00116
    Location:62288
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    pfam07679
    Location:430514
    I-set; Immunoglobulin I-set domain
    sd00031
    Location:337360
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:95118
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:117177
    LRR_8; Leucine rich repeat
    cl11960
    Location:438514
    Ig; Immunoglobulin domain
    cl15307
    Location:369412
    TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain
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