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

Gene ID: 100213, updated on 26-Sep-2022

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 cytoplasm. Predicted to be active in cytoplasmic vesicle. Human ortholog(s) of this gene implicated in autosomal recessive mental retardation 61. Orthologous to human RUSC2 (RUN and SH3 domain containing 2). [provided by Alliance of Genome Resources, Apr 2022]
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; 4 A5
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (43377202..43427092)
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 ATPase, class I, type 8B, member 5 Neighboring gene predicted gene, 46851 Neighboring gene predicted gene, 46850 Neighboring gene predicted gene, 52698 Neighboring gene family with sequence similarity 166, member B 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
  • 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 (17) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in cytoplasmic vesicle ISO
Inferred from Sequence Orthology
more info
  

General protein information

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

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_001037709.2 → NP_001032798.1  AP-4 complex accessory subunit RUSC2 isoform a

    See identical proteins and their annotated locations for NP_001032798.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AI849772, AK132170, BY283112, BY283239
    Consensus CDS
    CCDS18092.1
    UniProtKB/TrEMBL
    Q3V1Z0
    Related
    ENSMUSP00000038379.6, ENSMUST00000035645.12
    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_001369198.1 → NP_001356127.1  AP-4 complex accessory subunit RUSC2 isoform b

    Status: VALIDATED

    Source sequence(s)
    AL732504, AL732506
    Consensus CDS
    CCDS89734.1
    UniProtKB/TrEMBL
    G8JL85
    Related
    ENSMUSP00000118528.3, ENSMUST00000131668.3
    Conserved Domains (2) summary
    PHA03247
    Location:534 → 929
    PHA03247; large tegument protein UL36; Provisional
    pfam02759
    Location:1044 → 1147
    RUN; RUN domain

  3. NM_001369199.1 → 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_199057.3 → NP_951012.2  AP-4 complex accessory subunit RUSC2 isoform a

    See identical proteins and their annotated locations for NP_951012.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AI849772, AK132170, AL732506, BY237595
    Consensus CDS
    CCDS18092.1
    UniProtKB/TrEMBL
    Q3V1Z0
    Related
    ENSMUSP00000095710.3, ENSMUST00000098106.9
    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

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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..43427092
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030253056.1 → XP_030108916.1  iporin isoform X1

    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

  2. XM_006537527.4 → XP_006537590.1  iporin isoform X1

    See identical proteins and their annotated locations for XP_006537590.1

    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_011249895.2 → XP_011248197.1  iporin isoform X1

    See identical proteins and their annotated locations for XP_011248197.1

    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_011249897.2 → XP_011248199.1  iporin isoform X1

    See identical proteins and their annotated locations for XP_011248199.1

    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_006537528.2 → XP_006537591.1  iporin isoform X1

    See identical proteins and their annotated locations for XP_006537591.1

    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_006537529.3 → XP_006537592.1  iporin isoform X1

    See identical proteins and their annotated locations for XP_006537592.1

    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

  7. XM_011249896.3 → XP_011248198.1  iporin isoform X1

    See identical proteins and their annotated locations for XP_011248198.1

    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

  8. XM_006537530.3 → XP_006537593.1  iporin 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

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