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    RUSC2 RUN and SH3 domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 9853, updated on 27-Nov-2024

    Summary

    Official Symbol
    RUSC2provided by HGNC
    Official Full Name
    RUN and SH3 domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:23625
    See related
    Ensembl:ENSG00000198853 MIM:611053; AllianceGenome:HGNC:23625
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MRT61; Iporin
    Summary
    This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2012]
    Expression
    Ubiquitous expression in brain (RPKM 15.6), testis (RPKM 11.8) and 25 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:
    9p13.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (35490111..35561895)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (35509258..35582568)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35490108..35561892)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3537 Neighboring gene unc-13 homolog B Neighboring gene MPRA-validated peak7230 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:35327315-35328514 Neighboring gene Sharpr-MPRA regulatory region 14419 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr9:35373268-35373820 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:35397379-35398578 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:35403221-35404420 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:35405745-35406290 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:35406291-35406836 Neighboring gene ATPase phospholipid transporting 8B5, pseudogene Neighboring gene zinc finger AN1-type containing 6 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:35481926-35482160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19864 Neighboring gene uncharacterized LOC105376026 Neighboring gene ribosomal protein L36a pseudogene 33 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:35561040-35561232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28325 Neighboring gene ciliary microtubule inner protein 2B Neighboring gene Sharpr-MPRA regulatory region 2201 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19865 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19867 Neighboring gene Sharpr-MPRA regulatory region 203 Neighboring gene ribosomal protein S29 pseudogene 17 Neighboring gene microRNA 4667 Neighboring gene testis associated actin remodelling kinase 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of RUN and SH3 domain containing 2 (RUSC2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ60109, KIAA0375

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 

    General protein information

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

    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_001135999.2NP_001129471.2  AP-4 complex accessory subunit RUSC2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AL133476
      Consensus CDS
      CCDS35008.1
      UniProtKB/Swiss-Prot
      A2RU62, A7E2A9, O15080, Q5W134, Q641Q6, Q6P1W7, Q8N2Y8
      Related
      ENSP00000393922.1, ENST00000455600.1
    2. NM_001330740.2NP_001317669.1  AP-4 complex accessory subunit RUSC2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a large portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AL133476
      Conserved Domains (2) summary
      cd11957
      Location:573623
      SH3_RUSC2; Src homology 3 domain of RUN and SH3 domain-containing protein 2
      pfam02759
      Location:162264
      RUN; RUN domain
    3. NM_014806.5NP_055621.2  AP-4 complex accessory subunit RUSC2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon and thus differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AL133476
      Consensus CDS
      CCDS35008.1
      UniProtKB/Swiss-Prot
      A2RU62, A7E2A9, O15080, Q5W134, Q641Q6, Q6P1W7, Q8N2Y8
      Related
      ENSP00000355177.3, ENST00000361226.8
      Conserved Domains (3) summary
      cl02689
      Location:10401142
      RUN; RUN domain
      cl17036
      Location:14511501
      SH3; Src Homology 3 domain superfamily
      cl26464
      Location:523833
      Atrophin-1; Atrophin-1 family

    RNA

    1. NR_052015.4 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon and uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL133476

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      35490111..35561895
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424207.1XP_047280163.1  AP-4 complex accessory subunit RUSC2 isoform X1

      UniProtKB/Swiss-Prot
      A2RU62, A7E2A9, O15080, Q5W134, Q641Q6, Q6P1W7, Q8N2Y8
    2. XM_047424208.1XP_047280164.1  AP-4 complex accessory subunit RUSC2 isoform X1

      UniProtKB/Swiss-Prot
      A2RU62, A7E2A9, O15080, Q5W134, Q641Q6, Q6P1W7, Q8N2Y8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      35509258..35582568
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364340.1XP_054220315.1  AP-4 complex accessory subunit RUSC2 isoform X1

    2. XM_054364341.1XP_054220316.1  AP-4 complex accessory subunit RUSC2 isoform X1