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    Elfn2 leucine rich repeat and fibronectin type III, extracellular 2 [ Mus musculus (house mouse) ]

    Gene ID: 207393, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Elfn2provided by MGI
    Official Full Name
    leucine rich repeat and fibronectin type III, extracellular 2provided by MGI
    Primary source
    MGI:MGI:3608416
    See related
    Ensembl:ENSMUSG00000043460 AllianceGenome:MGI:3608416
    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
    Lrrc62; Ppp1r29; 6330514E13
    Summary
    Predicted to enable protein phosphatase inhibitor activity. Involved in synaptic membrane adhesion. Acts upstream of or within chemical synaptic transmission; establishment of protein localization; and gene expression. Is active in postsynaptic density membrane. Is expressed in eye; intestine; male reproductive gland or organ; and nervous system. Orthologous to human ELFN2 (extracellular leucine rich repeat and fibronectin type III domain containing 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in frontal lobe adult (RPKM 10.4), testis adult (RPKM 9.5) and 7 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Elfn2 in Genome Data Viewer
    Location:
    15 E1; 15 37.64 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (78551531..78603056, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (78667333..78718771, complement)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 52187 Neighboring gene predicted gene, 36877 Neighboring gene RIKEN cDNA 1700041B01 gene Neighboring gene predicted gene, 52188 Neighboring gene STARR-positive B cell enhancer ABC_E5495 Neighboring gene MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Neighboring gene caspase recruitment domain family, member 10

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. ELFN2 is a postsynaptic cell adhesion molecule with essential roles in controlling group III mGluRs in the brain and neuropsychiatric behavior. Dunn HA, et al. Mol Psychiatry, 2019 Dec. PMID 31485013, Free PMC Article
    2. Complex N-glycosylation of mGluR6 is required for trans-synaptic interaction with ELFN adhesion proteins. Miller ML, et al. J Biol Chem, 2024 Apr. PMID 38428819, Free PMC Article
    3. The extracellular leucine-rich repeat superfamily; a comparative survey and analysis of evolutionary relationships and expression patterns. Dolan J, et al. BMC Genomics, 2007 Sep 14. PMID 17868438, Free PMC Article
    4. Interplay between cell-adhesion molecules governs synaptic wiring of cone photoreceptors. Cao Y, et al. Proc Natl Acad Sci U S A, 2020 Sep 22. PMID 32879010, Free PMC Article
    5. Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome. Unda BK, et al. Mol Psychiatry, 2023 Apr. PMID 36604605, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Complex N-glycosylation of mGluR6 is required for trans-synaptic interaction with ELFN adhesion proteins.
      Title: Complex N-glycosylation of mGluR6 is required for trans-synaptic interaction with ELFN adhesion proteins.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2) 

    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 MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within chemical synaptic transmission IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within chemical synaptic transmission IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within establishment of protein localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in synaptic membrane adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in synaptic membrane adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in postsynaptic density membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in postsynaptic density membrane IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    is_active_in synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein phosphatase 1 regulatory subunit 29
    Names
    5leucine rich repeat containing 62
    extracellular leucine-rich repeat and fibronectin type III domain-containing protein 2
    leucine rich repeat containing 62
    leucine-rich repeat and fibronectin type-III domain-containing protein 6
    leucine-rich repeat-containing protein 62

    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_001358692.2 → NP_001345621.1  protein phosphatase 1 regulatory subunit 29 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL591946
      Consensus CDS
      CCDS27621.1
      UniProtKB/Swiss-Prot
      Q68FM6, Q69Z72, Q8CCW8
      Related
      ENSMUSP00000085960.5, ENSMUST00000088592.6
      Conserved Domains (4) summary
      TIGR00864
      Location:157 → 227
      PCC; polycystin cation channel protein
      sd00031
      Location:60 → 80
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:200 → 226
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:80 → 139
      LRR_8; Leucine rich repeat

    2. NM_001416409.1 → NP_001403338.1  protein phosphatase 1 regulatory subunit 29 precursor

      Status: VALIDATED

      Source sequence(s)
      AL591946
      UniProtKB/Swiss-Prot
      Q68FM6, Q69Z72, Q8CCW8

    3. NM_183141.3 → NP_898964.2  protein phosphatase 1 regulatory subunit 29 precursor

      See identical proteins and their annotated locations for NP_898964.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL591946
      Consensus CDS
      CCDS27621.1
      UniProtKB/Swiss-Prot
      Q68FM6, Q69Z72, Q8CCW8
      Related
      ENSMUSP00000155111.2, ENSMUST00000229441.2
      Conserved Domains (4) summary
      TIGR00864
      Location:157 → 227
      PCC; polycystin cation channel protein
      sd00031
      Location:60 → 80
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:200 → 226
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:80 → 139
      LRR_8; Leucine rich repeat

    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

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      78551531..78603056 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036159292.1 → XP_036015185.1  protein phosphatase 1 regulatory subunit 29 isoform X1

      UniProtKB/Swiss-Prot
      Q68FM6, Q69Z72, Q8CCW8
      Conserved Domains (4) summary
      TIGR00864
      Location:157 → 227
      PCC; polycystin cation channel protein
      sd00031
      Location:60 → 80
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:200 → 226
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:80 → 139
      LRR_8; Leucine rich repeat

    2. XM_036159290.1 → XP_036015183.1  protein phosphatase 1 regulatory subunit 29 isoform X1

      UniProtKB/Swiss-Prot
      Q68FM6, Q69Z72, Q8CCW8
      Conserved Domains (4) summary
      TIGR00864
      Location:157 → 227
      PCC; polycystin cation channel protein
      sd00031
      Location:60 → 80
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:200 → 226
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:80 → 139
      LRR_8; Leucine rich repeat
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68FM6.1 GenPept UniProtKB/Swiss-Prot:Q68FM6

    Gene LinkOut

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

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