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    Tom1l2 target of myb1-like 2 (chicken) [ Mus musculus (house mouse) ]

    Gene ID: 216810, updated on 3-Apr-2024

    Summary

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    Official Symbol
    Tom1l2provided by MGI
    Official Full Name
    target of myb1-like 2 (chicken)provided by MGI
    Primary source
    MGI:MGI:2443306
    See related
    Ensembl:ENSMUSG00000000538 AllianceGenome:MGI:2443306
    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
    Srebf1; 2900016I08Rik; A730055F12Rik
    Summary
    Predicted to enable clathrin binding activity and protein kinase binding activity. Predicted to be involved in negative regulation of mitotic nuclear division and signal transduction. Predicted to act upstream of or within protein transport. Predicted to be active in endosome and membrane. Orthologous to human TOM1L2 (target of myb1 like 2 membrane trafficking protein). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 35.6), cortex adult (RPKM 28.0) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tom1l2 in Genome Data Viewer
    Location:
    11 B2; 11 37.81 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (60114622..60243766, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (60226714..60352932, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E10678 Neighboring gene microRNA 6921 Neighboring gene microRNA 6922 Neighboring gene sterol regulatory element binding transcription factor 1 Neighboring gene STARR-positive B cell enhancer ABC_E11767 Neighboring gene predicted gene, 38501 Neighboring gene STARR-seq mESC enhancer starr_29644 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:60147838-60148039 Neighboring gene STARR-positive B cell enhancer ABC_E77 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene STARR-seq mESC enhancer starr_29650 Neighboring gene dynein regulatory complex subunit 3 Neighboring gene STARR-positive B cell enhancer ABC_E1139 Neighboring gene ATP synthase mitochondrial F1 complex assembly factor 2 Neighboring gene STARR-seq mESC enhancer starr_29653 Neighboring gene STARR-seq mESC enhancer starr_29654 Neighboring gene GID complex subunit 4, VID24 homolog Neighboring gene predicted gene 12268

    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. Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response. Girirajan S, et al. Mamm Genome, 2008 Apr. PMID 18343975
    2. The ancestral ESCRT protein TOM1L2 selects ubiquitinated cargoes for retrieval from cilia. Shinde SR, et al. Dev Cell, 2023 Apr 24. PMID 37019113,
    3. Hepatic free fatty acids accumulate in experimental steatohepatitis: role of adaptive pathways. Larter CZ, et al. J Hepatol, 2008 Apr. PMID 18280001
    4. Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. Ricard G, et al. PLoS Biol, 2010 Nov 23. PMID 21124890, Free PMC Article
    5. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Bi W, et al. Genome Res, 2002 May. PMID 11997338, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The ancestral ESCRT protein TOM1L2 selects ubiquitinated cargoes for retrieval from cilia.
      Title: The ancestral ESCRT protein TOM1L2 selects ubiquitinated cargoes for retrieval from cilia.
    2. Consistent with pathways of hepatic triglyceride synthesis, expression of diacylglycerol acyltransferase-1 and -2 was increased, as were delta-5- and delta-6- fatty acid desaturase mRNA levels.
      Title: Hepatic free fatty acids accumulate in experimental steatohepatitis: role of adaptive pathways.
    3. Tom1l2plays a role in the immune response and possibly in tumor suppression.
      Title: Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1)  1 citation
    • Endonuclease-mediated (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables clathrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables clathrin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein kinase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ubiquitin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of mitotic nuclear division ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    TOM1-like protein 2
    Names
    myb1-like protein 2
    target of Myb-like protein 2

    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_001039092.4 → NP_001034181.1  TOM1-like protein 2 isoform b

      See identical proteins and their annotated locations for NP_001034181.1

      Status: VALIDATED

      Source sequence(s)
      AI848036, AL596090, BC127266
      Consensus CDS
      CCDS36171.1
      UniProtKB/TrEMBL
      Q5SXA4
      Related
      ENSMUSP00000092884.6, ENSMUST00000095254.12
      Conserved Domains (2) summary
      cd03565
      Location:12 → 152
      VHS_Tom1; VHS domain family, Tom1 subfamily; The VHS domain is an essential part of Tom1 (Target of myb1 - retroviral oncogene) protein. The VHS domain has a superhelical structure similar to the structure of the ARM repeats and is present at the very N-termini of ...
      cd14238
      Location:218 → 309
      GAT_TM1L2; GAT domain found in target of Myb-like protein 2 (Tom1L2)

    2. NM_001039093.1 → NP_001034182.1  TOM1-like protein 2 isoform c

      See identical proteins and their annotated locations for NP_001034182.1

      Status: VALIDATED

      Source sequence(s)
      AK043095, AK054531, AL596090
      Consensus CDS
      CCDS24787.1
      UniProtKB/TrEMBL
      Q5SXA4
      Related
      ENSMUSP00000099743.5, ENSMUST00000102682.5
      Conserved Domains (2) summary
      cd03565
      Location:12 → 152
      VHS_Tom1; VHS domain family, Tom1 subfamily; The VHS domain is an essential part of Tom1 (Target of myb1 - retroviral oncogene) protein. The VHS domain has a superhelical structure similar to the structure of the ARM repeats and is present at the very N-termini of ...
      cd14238
      Location:218 → 309
      GAT_TM1L2; GAT domain found in target of Myb-like protein 2 (Tom1L2)

    3. NM_001359810.1 → NP_001346739.1  TOM1-like protein 2 isoform d

      Status: VALIDATED

      Source sequence(s)
      AK043095, AL596090, AL669954
      Consensus CDS
      CCDS88165.1
      UniProtKB/TrEMBL
      Q5SXA4
      Related
      ENSMUSP00000063414.9, ENSMUST00000064019.15
      Conserved Domains (2) summary
      cd03565
      Location:12 → 152
      VHS_Tom1; VHS domain family, Tom1 subfamily; The VHS domain is an essential part of Tom1 (Target of myb1 - retroviral oncogene) protein. The VHS domain has a superhelical structure similar to the structure of the ARM repeats and is present at the very N-termini of ...
      cd14238
      Location:218 → 309
      GAT_TM1L2; GAT domain found in target of Myb-like protein 2 (Tom1L2)

    4. NM_001403888.1 → NP_001390817.1  TOM1-like protein 2 isoform e

      Status: VALIDATED

      Source sequence(s)
      AL596090, AL669954

    5. NM_001403891.1 → NP_001390820.1  TOM1-like protein 2 isoform f

      Status: VALIDATED

      Source sequence(s)
      AL596090, AL669954

    6. NM_001403893.1 → NP_001390822.1  TOM1-like protein 2 isoform g

      Status: VALIDATED

      Source sequence(s)
      AL596090, AL669954

    7. NM_001403895.1 → NP_001390824.1  TOM1-like protein 2 isoform g

      Status: VALIDATED

      Source sequence(s)
      AL596090, AL669954

    8. NM_001403896.1 → NP_001390825.1  TOM1-like protein 2 isoform i

      Status: VALIDATED

      Source sequence(s)
      AL596090, AL669954

    9. NM_153080.3 → NP_694720.2  TOM1-like protein 2 isoform a

      See identical proteins and their annotated locations for NP_694720.2

      Status: VALIDATED

      Source sequence(s)
      AF467887, AI848036, AL596090, AL669954, BC127266
      Consensus CDS
      CCDS24786.1
      UniProtKB/Swiss-Prot
      A0JP66, Q5SRX1, Q5SRX7, Q5SRY0, Q6P5D7, Q8C6J0, Q8C935, Q8CB51, Q8R4H1
      UniProtKB/TrEMBL
      Q5SXA4
      Related
      ENSMUSP00000099744.5, ENSMUST00000102683.11
      Conserved Domains (2) summary
      cd03565
      Location:12 → 152
      VHS_Tom1; VHS domain family, Tom1 subfamily; The VHS domain is an essential part of Tom1 (Target of myb1 - retroviral oncogene) protein. The VHS domain has a superhelical structure similar to the structure of the ARM repeats and is present at the very N-termini of ...
      cd14238
      Location:218 → 309
      GAT_TM1L2; GAT domain found in target of Myb-like protein 2 (Tom1L2)

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      60114622..60243766 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036156554.1 → XP_036012447.1  TOM1-like protein 2 isoform X6

      UniProtKB/TrEMBL
      Q5SXA4
      Conserved Domains (2) summary
      cd16996
      Location:12 → 148
      VHS_Tom1L2; VHS (Vps27/Hrs/STAM) domain of TOM1-like protein 2
      cd14238
      Location:218 → 309
      GAT_TM1L2; canonical GAT domain found in target of Myb-like protein 2 (Tom1L2)

    2. XM_011248906.4 → XP_011247208.1  TOM1-like protein 2 isoform X2

      UniProtKB/TrEMBL
      Q5SXA4
      Conserved Domains (2) summary
      cd14238
      Location:218 → 309
      GAT_TM1L2; GAT domain found in target of Myb-like protein 2 (Tom1L2)
      cd16996
      Location:12 → 148
      VHS_Tom1L2; VHS (Vps27/Hrs/STAM) domain of TOM1-like protein 2

    3. XM_030245804.1 → XP_030101664.1  TOM1-like protein 2 isoform X3

      UniProtKB/TrEMBL
      Q5SXA4
      Conserved Domains (2) summary
      cd14238
      Location:185 → 276
      GAT_TM1L2; GAT domain found in target of Myb-like protein 2 (Tom1L2)
      cl02544
      Location:1 → 115
      VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily

    4. XM_030245805.1 → XP_030101665.1  TOM1-like protein 2 isoform X3

      UniProtKB/TrEMBL
      Q5SXA4
      Conserved Domains (2) summary
      cd14238
      Location:185 → 276
      GAT_TM1L2; GAT domain found in target of Myb-like protein 2 (Tom1L2)
      cl02544
      Location:1 → 115
      VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily

    5. XM_017314451.3 → XP_017169940.1  TOM1-like protein 2 isoform X7

      Conserved Domains (2) summary
      cd14238
      Location:185 → 276
      GAT_TM1L2; GAT domain found in target of Myb-like protein 2 (Tom1L2)
      cl02544
      Location:1 → 115
      VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SRX1.1 GenPept UniProtKB/Swiss-Prot:Q5SRX1

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

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