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    Sh3rf2 SH3 domain containing ring finger 2 [ Mus musculus (house mouse) ]

    Gene ID: 269016, updated on 12-May-2024

    Summary

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    Official Symbol
    Sh3rf2provided by MGI
    Official Full Name
    SH3 domain containing ring finger 2provided by MGI
    Primary source
    MGI:MGI:2444628
    See related
    Ensembl:ENSMUSG00000057719 AllianceGenome:MGI:2444628
    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
    RNF158; Ppp1r39; 2310046K19; 9130023G24Rik
    Summary
    Predicted to enable protein phosphatase 1 binding activity and ubiquitin protein ligase activity. Predicted to be involved in several processes, including protein autoubiquitination; regulation of JNK cascade; and regulation of cellular protein metabolic process. Predicted to be located in nucleus. Predicted to be active in nucleoplasm. Is expressed in central nervous system; dorsal root ganglion; and neural retina. Used to study autism spectrum disorder. Orthologous to human SH3RF2 (SH3 domain containing ring finger 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis adult (RPKM 39.6), lung adult (RPKM 3.7) and 1 other tissue See more
    Orthologs
    human all
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    Genomic context

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    See Sh3rf2 in Genome Data Viewer
    Location:
    18 B3; 18 22.21 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (42185531..42291760)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (42052502..42158695)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene glutaredoxin, cysteine rich 2 Neighboring gene STARR-seq mESC enhancer starr_44431 Neighboring gene predicted gene, 54020 Neighboring gene STARR-seq mESC enhancer starr_44432 Neighboring gene cystatin domain containing 7 Neighboring gene PLAC8-like 1 Neighboring gene predicted gene, 18086

    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. Sh3rf2 Haploinsufficiency Leads to Unilateral Neuronal Development Deficits and Autistic-Like Behaviors in Mice. Wang S, et al. Cell Rep, 2018 Dec 11. PMID 30540932
    2. Hepatocyte SH3RF2 Deficiency Is a Key Aggravator for NAFLD. Yang X, et al. Hepatology, 2021 Sep. PMID 33894019
    3. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article
    4. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
    5. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Hepatocyte SH3RF2 Deficiency Is a Key Aggravator for NAFLD.
      Title: Hepatocyte SH3RF2 Deficiency Is a Key Aggravator for NAFLD.
    2. Sh3rf2 haploinsufficiency is a highly penetrant risk factor for Autism spectrum disorders.
      Title: Sh3rf2 Haploinsufficiency Leads to Unilateral Neuronal Development Deficits and Autistic-Like Behaviors in Mice.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein phosphatase 1 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein phosphatase 1 binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein phosphatase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of JNK cascade ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of protein ubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of JNK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of JNK cascade ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of cell migration ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein autoubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase SH3RF2
    Names
    RING finger protein 158
    RING-type E3 ubiquitin transferase SH3RF2
    SH3 domain-containing RING finger protein 2
    protein phosphatase 1 regulatory subunit 39
    putative E3 ubiquitin-protein ligase SH3RF2
    NP_001139771.1
    NP_766554.2
    XP_006526018.1

    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_001146299.1 → NP_001139771.1  E3 ubiquitin-protein ligase SH3RF2 isoform 1

      See identical proteins and their annotated locations for NP_001139771.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC122848, AK029168, AK033601
      Consensus CDS
      CCDS50265.1
      UniProtKB/Swiss-Prot
      B2RQJ2, Q80VJ1, Q8BZT2, Q8C122, Q8C1E3
      Related
      ENSMUSP00000071896.5, ENSMUST00000072008.11
      Conserved Domains (4) summary
      cd11784
      Location:386 → 440
      SH3_SH3RF2_3; Third Src Homology 3 domain of SH3 domain containing ring finger 2
      cd11929
      Location:128 → 181
      SH3_SH3RF2_1; First Src Homology 3 domain of SH3 domain containing ring finger 2
      cd11932
      Location:191 → 247
      SH3_SH3RF2_2; Second Src Homology 3 domain of SH3 domain containing ring finger 2
      cd16749
      Location:11 → 55
      RING-HC_SH3RF2; RING finger, HC subclass, found in SH3 domain-containing RING finger protein 2 (SH3RF2) and similar proteins

    2. NM_172966.3 → NP_766554.2  E3 ubiquitin-protein ligase SH3RF2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. This difference results in a shorter protein (isoform 2) that lacks an Src homology 3 domain, compared to isoform 1.
      Source sequence(s)
      AC122848, AK029168, AK033601
      Consensus CDS
      CCDS29210.1
      UniProtKB/Swiss-Prot
      Q8BZT2
      Related
      ENSMUSP00000074247.4, ENSMUST00000074679.4
      Conserved Domains (4) summary
      cd11784
      Location:354 → 408
      SH3_SH3RF2_3; Third Src Homology 3 domain of SH3 domain containing ring finger 2
      cd11929
      Location:128 → 181
      SH3_SH3RF2_1; First Src Homology 3 domain of SH3 domain containing ring finger 2
      cd16749
      Location:11 → 55
      RING-HC_SH3RF2; RING finger, HC subclass, found in SH3 domain-containing RING finger protein 2 (SH3RF2) and similar proteins
      cl17036
      Location:191 → 219
      SH3; Src Homology 3 domain superfamily

    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_000084.7 Reference GRCm39 C57BL/6J

      Range
      42185531..42291760
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006525955.3 → XP_006526018.1  E3 ubiquitin-protein ligase SH3RF2 isoform X1

      See identical proteins and their annotated locations for XP_006526018.1

      UniProtKB/Swiss-Prot
      B2RQJ2, Q80VJ1, Q8BZT2, Q8C122, Q8C1E3
      Conserved Domains (4) summary
      cd11784
      Location:386 → 440
      SH3_SH3RF2_3; Third Src Homology 3 domain of SH3 domain containing ring finger 2
      cd11929
      Location:128 → 181
      SH3_SH3RF2_1; First Src Homology 3 domain of SH3 domain containing ring finger 2
      cd11932
      Location:191 → 247
      SH3_SH3RF2_2; Second Src Homology 3 domain of SH3 domain containing ring finger 2
      cd16749
      Location:11 → 55
      RING-HC_SH3RF2; RING finger, HC subclass, found in SH3 domain-containing RING finger protein 2 (SH3RF2) and similar proteins
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BZT2.2 GenPept UniProtKB/Swiss-Prot:Q8BZT2

    Gene LinkOut

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

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