Lrfn2 leucine rich repeat and fibronectin type III domain containing 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lrfn2provided by MGI
Official Full Name: leucine rich repeat and fibronectin type III domain containing 2provided by MGI
Primary source: MGI:MGI:1917780
See related: Ensembl:ENSMUSG00000040490 AllianceGenome:MGI:1917780
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: SALM1; mKIAA1246; 5730420O05Rik
Summary: Involved in modulation of chemical synaptic transmission and regulation of postsynapse organization. Located in cell surface. Is active in Schaffer collateral - CA1 synapse; postsynapse; and presynapse. Is expressed in several structures, including central nervous system; esophagus; eye; male reproductive gland or organ; and trigeminal nerve. Used to study autism spectrum disorder. Orthologous to human LRFN2 (leucine rich repeat and fibronectin type III domain containing 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in CNS E18 (RPKM 2.8), cortex adult (RPKM 2.8) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 C; 17 24.66 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (49238630..49404619)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (48931590..49097591)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dysregulation of erythropoiesis and altered erythroblastic NMDA receptor-mediated calcium influx in Lrfn2-deficient mice.
Title: Dysregulation of erythropoiesis and altered erythroblastic NMDA receptor-mediated calcium influx in Lrfn2-deficient mice.
Data show that SALM1 is a presynaptic organizer of synapse development by promoting F-actin/PIP2-dependent clustering of Neurexin.
Title: SALM1 controls synapse development by promoting F-actin/PIP2-dependent Neurexin clustering.
These results suggest that SALM1/LRFN2 regulates excitatory synapse function, inhibitory synapse development, social communication, and acoustic startle behavior.
Title: Lrfn2-Mutant Mice Display Suppressed Synaptic Plasticity and Inhibitory Synapse Development and Abnormal Social Communication and Startle Response.
Lrfn2 dysfunction causes immature/silent synapses with pathophysiological state.
Title: Autism-like behaviours and enhanced memory formation and synaptic plasticity in Lrfn2/SALM1-deficient mice.
The Lrfn2 protein, a transmembrane adhesion-type molecule, is able to subvert hematopoietic differentiation to increase erythropoiesis.
Title: Regulation of erythropoiesis by the neuronal transmembrane protein Lrfn2.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (4) 1 citation
Transgenic (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:488818

Lrfn2 (e-PCR), detects polymorphism
- UniSTS:525546

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in modulation of chemical synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
involved_in modulation of chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of postsynapse organization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynapse organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Schaffer collateral - CA1 synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic density membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in postsynaptic density membrane	ISO Inferred from Sequence Orthology more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in presynapse	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: leucine-rich repeat and fibronectin type-III domain-containing protein 2

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)

NM_027452.3 → NP_081728.2 leucine-rich repeat and fibronectin type-III domain-containing protein 2 precursor

See identical proteins and their annotated locations for NP_081728.2

Status: VALIDATED

Source sequence(s)

AK044375, BC139418, BY641512

Consensus CDS

CCDS28871.1

UniProtKB/Swiss-Prot

B9EIF8, Q80TG9, Q9CYK3

Related

ENSMUSP00000047573.3, ENSMUST00000046254.3

Conserved Domains (7) summary

smart00082
Location:242 → 286

LRRCT; Leucine rich repeat C-terminal domain

smart00410
Location:298 → 376

IG_like; Immunoglobulin like

cd00116
Location:27 → 209

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 ...

sd00033
Location:54 → 77

LRR_RI; leucine-rich repeat [structural motif]

pfam00041
Location:428 → 493

fn3; Fibronectin type III domain

pfam13855
Location:76 → 136

LRR_8; Leucine rich repeat

cl11960
Location:303 → 376

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000083.7 Reference GRCm39 C57BL/6J

Range

49238630..49404619

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006524896.4 → XP_006524959.1 leucine-rich repeat and fibronectin type-III domain-containing protein 2 isoform X1

Conserved Domains (4) summary

sd00033
Location:54 → 77

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:77 → 136

LRR_8; Leucine rich repeat

cl11960
Location:303 → 376

Ig; Immunoglobulin domain

cl15307
Location:242 → 286

TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain