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

    Gene ID: 100213, updated on 27-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    Variation

    Alleles

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

    General gene information

    Markers

    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

    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)

    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_001037709.3NP_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:534929
      PHA03247; large tegument protein UL36; Provisional
      pfam02759
      Location:10441147
      RUN; RUN domain
      cl17036
      Location:14581509
      SH3; Src Homology 3 domain superfamily
    2. NM_001369198.2NP_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:534929
      PHA03247; large tegument protein UL36; Provisional
      pfam02759
      Location:10441147
      RUN; RUN domain
    3. NM_001369199.2NP_001356128.1  AP-4 complex accessory subunit RUSC2 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL732504, AL732506
      Conserved Domains (3) summary
      PHA03247
      Location:9203
      PHA03247; large tegument protein UL36; Provisional
      pfam02759
      Location:318421
      RUN; RUN domain
      cl17036
      Location:732783
      SH3; Src Homology 3 domain superfamily
    4. NM_001426154.1NP_001413083.1  AP-4 complex accessory subunit RUSC2 isoform a

      Status: VALIDATED

      Source sequence(s)
      AL732504, AL732506
      UniProtKB/TrEMBL
      Q3V1Z0
    5. NM_001426155.1NP_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_199057.4NP_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:534929
      PHA03247; large tegument protein UL36; Provisional
      pfam02759
      Location:10441147
      RUN; RUN domain
      cl17036
      Location:14581509
      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_011249895.2XP_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:534929
      PHA03247; large tegument protein UL36; Provisional
      pfam02759
      Location:10441147
      RUN; RUN domain
      cl17036
      Location:14581509
      SH3; Src Homology 3 domain superfamily
    2. XM_011249897.2XP_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:534929
      PHA03247; large tegument protein UL36; Provisional
      pfam02759
      Location:10441147
      RUN; RUN domain
      cl17036
      Location:14581509
      SH3; Src Homology 3 domain superfamily
    3. XM_006537528.2XP_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:534929
      PHA03247; large tegument protein UL36; Provisional
      pfam02759
      Location:10441147
      RUN; RUN domain
      cl17036
      Location:14581509
      SH3; Src Homology 3 domain superfamily
    4. XM_006537529.3XP_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:534929
      PHA03247; large tegument protein UL36; Provisional
      pfam02759
      Location:10441147
      RUN; RUN domain
      cl17036
      Location:14581509
      SH3; Src Homology 3 domain superfamily
    5. XM_011249896.3XP_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:534929
      PHA03247; large tegument protein UL36; Provisional
      pfam02759
      Location:10441147
      RUN; RUN domain
      cl17036
      Location:14581509
      SH3; Src Homology 3 domain superfamily
    6. XM_006537530.3XP_006537593.1  AP-4 complex accessory subunit RUSC2 isoform X2

      Conserved Domains (3) summary
      PHA03247
      Location:9203
      PHA03247; large tegument protein UL36; Provisional
      pfam02759
      Location:318421
      RUN; RUN domain
      cl17036
      Location:732783
      SH3; Src Homology 3 domain superfamily