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    Rusc2 RUN and SH3 domain containing 2 [ Mus musculus (house mouse) ]

    Gene ID: 100213, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Rusc2provided by MGI
    Official Full Name
    RUN and SH3 domain containing 2provided by MGI
    Primary source
    MGI:MGI:2140371
    See related
    Ensembl:ENSMUSG00000035969 AllianceGenome:MGI:2140371
    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
    mKIAA0375
    Summary
    Predicted to enable small GTPase binding activity. Predicted to be located in cytosol. Predicted to be active in cytoplasmic vesicle. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 61. Orthologous to human RUSC2 (RUN and SH3 domain containing 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lung adult (RPKM 19.0), whole brain E14.5 (RPKM 10.9) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Rusc2 in Genome Data Viewer
    Location:
    4 A5; 4 23.03 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (43377202..43427088)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (43377202..43427092)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene unc-13 homolog B Neighboring gene predicted gene, 25010 Neighboring gene STARR-seq mESC enhancer starr_10048 Neighboring gene ATPase, class I, type 8B, member 5 Neighboring gene STARR-seq mESC enhancer starr_10049 Neighboring gene predicted gene, 46851 Neighboring gene STARR-seq mESC enhancer starr_10051 Neighboring gene predicted gene, 46850 Neighboring gene STARR-seq mESC enhancer starr_10053 Neighboring gene predicted gene, 52698 Neighboring gene ciliary microtubule inner protein 2B Neighboring gene STARR-positive B cell enhancer ABC_E2109 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:43495064-43495217 Neighboring gene testis specific protein kinase 1 Neighboring gene CD72 antigen Neighboring gene suppression inducing transmembrane adaptor 1

    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 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. Decreased expression levels of Ifi genes is associated to the increased resistance to spontaneous arthritis disease in mice deficiency of IL-1RA. Liu X, et al. BMC Immunol, 2016 Aug 2. PMID 27480124, Free PMC Article
    2. Qualitative and quantitative analyses of protein phosphorylation in naive and stimulated mouse synaptosomal preparations. Munton RP, et al. Mol Cell Proteomics, 2007 Feb. PMID 17114649
    3. Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Feb 28. PMID 12693553
    4. EUCOMM--the European conditional mouse mutagenesis program. Friedel RH, et al. Brief Funct Genomic Proteomic, 2007 Sep. PMID 17967808
    5. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

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

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC176147

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    AP-4 complex accessory subunit RUSC2
    Names
    RUN and SH3 domain-containing protein 2
    interacting protein of Rab1
    iporin

    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_001037709.3 → NP_001032798.1  AP-4 complex accessory subunit RUSC2 isoform a

      See identical proteins and their annotated locations for NP_001032798.1

      Status: VALIDATED

      Source sequence(s)
      AL732504, AL732506
      Consensus CDS
      CCDS18092.1
      UniProtKB/Swiss-Prot
      Q80U22, Q8R1D6
      UniProtKB/TrEMBL
      Q3V1Z0
      Related
      ENSMUSP00000038379.7, ENSMUST00000035645.13
      Conserved Domains (3) summary
      PHA03247
      Location:534 → 929
      PHA03247; large tegument protein UL36; Provisional
      pfam02759
      Location:1044 → 1147
      RUN; RUN domain
      cl17036
      Location:1458 → 1509
      SH3; Src Homology 3 domain superfamily

    2. NM_001369198.2 → NP_001356127.1  AP-4 complex accessory subunit RUSC2 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL732504, AL732506
      Consensus CDS
      CCDS89734.1
      UniProtKB/Swiss-Prot
      Q80U22, Q8R1D6
      UniProtKB/TrEMBL
      G8JL85
      Related
      ENSMUSP00000118528.4, ENSMUST00000131668.4
      Conserved Domains (2) summary
      PHA03247
      Location:534 → 929
      PHA03247; large tegument protein UL36; Provisional
      pfam02759
      Location:1044 → 1147
      RUN; RUN domain

    3. NM_001369199.2 → NP_001356128.1  AP-4 complex accessory subunit RUSC2 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL732504, AL732506
      Conserved Domains (3) summary
      PHA03247
      Location:9 → 203
      PHA03247; large tegument protein UL36; Provisional
      pfam02759
      Location:318 → 421
      RUN; RUN domain
      cl17036
      Location:732 → 783
      SH3; Src Homology 3 domain superfamily

    4. NM_001426154.1 → NP_001413083.1  AP-4 complex accessory subunit RUSC2 isoform a

      Status: VALIDATED

      Source sequence(s)
      AL732504, AL732506
      UniProtKB/TrEMBL
      Q3V1Z0

    5. NM_001426155.1 → NP_001413084.1  AP-4 complex accessory subunit RUSC2 isoform a

      Status: VALIDATED

      Source sequence(s)
      AL732504, AL732506
      UniProtKB/TrEMBL
      Q3V1Z0
      Related
      ENSMUSP00000116700.3, ENSMUST00000125399.3

    6. NM_199057.4 → NP_951012.2  AP-4 complex accessory subunit RUSC2 isoform a

      See identical proteins and their annotated locations for NP_951012.2

      Status: VALIDATED

      Source sequence(s)
      AL732506
      Consensus CDS
      CCDS18092.1
      UniProtKB/Swiss-Prot
      Q80U22, Q8R1D6
      UniProtKB/TrEMBL
      Q3V1Z0
      Related
      ENSMUSP00000095710.4, ENSMUST00000098106.10
      Conserved Domains (3) summary
      PHA03247
      Location:534 → 929
      PHA03247; large tegument protein UL36; Provisional
      pfam02759
      Location:1044 → 1147
      RUN; RUN domain
      cl17036
      Location:1458 → 1509
      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_000070.7 Reference GRCm39 C57BL/6J

      Range
      43377202..43427088
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011249895.2 → XP_011248197.1  AP-4 complex accessory subunit RUSC2 isoform X1

      See identical proteins and their annotated locations for XP_011248197.1

      UniProtKB/Swiss-Prot
      Q80U22, Q8R1D6
      UniProtKB/TrEMBL
      Q3V1Z0
      Related
      ENSMUSP00000121762.3, ENSMUST00000144911.9
      Conserved Domains (3) summary
      PHA03247
      Location:534 → 929
      PHA03247; large tegument protein UL36; Provisional
      pfam02759
      Location:1044 → 1147
      RUN; RUN domain
      cl17036
      Location:1458 → 1509
      SH3; Src Homology 3 domain superfamily

    2. XM_011249897.2 → XP_011248199.1  AP-4 complex accessory subunit RUSC2 isoform X1

      See identical proteins and their annotated locations for XP_011248199.1

      UniProtKB/Swiss-Prot
      Q80U22, Q8R1D6
      UniProtKB/TrEMBL
      Q3V1Z0
      Conserved Domains (3) summary
      PHA03247
      Location:534 → 929
      PHA03247; large tegument protein UL36; Provisional
      pfam02759
      Location:1044 → 1147
      RUN; RUN domain
      cl17036
      Location:1458 → 1509
      SH3; Src Homology 3 domain superfamily

    3. XM_006537528.2 → XP_006537591.1  AP-4 complex accessory subunit RUSC2 isoform X1

      See identical proteins and their annotated locations for XP_006537591.1

      UniProtKB/Swiss-Prot
      Q80U22, Q8R1D6
      UniProtKB/TrEMBL
      Q3V1Z0
      Conserved Domains (3) summary
      PHA03247
      Location:534 → 929
      PHA03247; large tegument protein UL36; Provisional
      pfam02759
      Location:1044 → 1147
      RUN; RUN domain
      cl17036
      Location:1458 → 1509
      SH3; Src Homology 3 domain superfamily

    4. XM_006537529.3 → XP_006537592.1  AP-4 complex accessory subunit RUSC2 isoform X1

      See identical proteins and their annotated locations for XP_006537592.1

      UniProtKB/Swiss-Prot
      Q80U22, Q8R1D6
      UniProtKB/TrEMBL
      Q3V1Z0
      Conserved Domains (3) summary
      PHA03247
      Location:534 → 929
      PHA03247; large tegument protein UL36; Provisional
      pfam02759
      Location:1044 → 1147
      RUN; RUN domain
      cl17036
      Location:1458 → 1509
      SH3; Src Homology 3 domain superfamily

    5. XM_011249896.3 → XP_011248198.1  AP-4 complex accessory subunit RUSC2 isoform X1

      See identical proteins and their annotated locations for XP_011248198.1

      UniProtKB/Swiss-Prot
      Q80U22, Q8R1D6
      UniProtKB/TrEMBL
      Q3V1Z0
      Conserved Domains (3) summary
      PHA03247
      Location:534 → 929
      PHA03247; large tegument protein UL36; Provisional
      pfam02759
      Location:1044 → 1147
      RUN; RUN domain
      cl17036
      Location:1458 → 1509
      SH3; Src Homology 3 domain superfamily

    6. XM_006537530.3 → XP_006537593.1  AP-4 complex accessory subunit RUSC2 isoform X2

      Conserved Domains (3) summary
      PHA03247
      Location:9 → 203
      PHA03247; large tegument protein UL36; Provisional
      pfam02759
      Location:318 → 421
      RUN; RUN domain
      cl17036
      Location:732 → 783
      SH3; Src Homology 3 domain superfamily
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80U22.2 GenPept UniProtKB/Swiss-Prot:Q80U22

    Gene LinkOut

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

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