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    TOM1L2 target of myb1 like 2 membrane trafficking protein [ Homo sapiens (human) ]

    Gene ID: 146691, updated on 10-Dec-2024

    Summary

    Official Symbol
    TOM1L2provided by HGNC
    Official Full Name
    target of myb1 like 2 membrane trafficking proteinprovided by HGNC
    Primary source
    HGNC:HGNC:11984
    See related
    Ensembl:ENSG00000175662 MIM:615519; AllianceGenome:HGNC:11984
    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
    Summary
    This gene belongs to a small gene family whose members have an N-terminal VHS domain followed by a GAT domain; domains which typically participate in vesicular trafficking. The canonical protein encoded by this gene also has a C-terminal clathrin binding motif. This protein has been shown to interact with Tollip, clathrin and ubiquitin and is thought to play a role in endosomal sorting. This gene resides in the 3.7 Mb deletion of chromosome region 17p11.2 that is associated with Smith-Magenis syndrome. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Apr 2017]
    Expression
    Broad expression in heart (RPKM 43.2), brain (RPKM 27.4) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TOM1L2 in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (17843511..17972400, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (17790194..17919077, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (17746825..17875714, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17722069-17722789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11811 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:17726733-17726883 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11813 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17730461-17731182 Neighboring gene microRNA 6777 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17731183-17731904 Neighboring gene sterol regulatory element binding transcription factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17733682-17734430 Neighboring gene microRNA 33b Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17734431-17735178 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17739175-17740076 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17740077-17740979 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:17740980-17741881 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17743523-17744042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17745179-17745680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17747581-17748101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17751860-17752706 Neighboring gene Sharpr-MPRA regulatory region 7387 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:17762139-17762639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11815 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:17779053-17780252 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17780613-17781334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17787373-17788134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17788135-17788894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17792123-17792624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17817644-17818266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17823655-17824188 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17824189-17824722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17825257-17825790 Neighboring gene Sharpr-MPRA regulatory region 12990 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17825791-17826324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17826325-17826857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11818 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17875207-17875776 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11819 Neighboring gene uncharacterized LOC107984989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17884370-17884870 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:17898150-17898316 Neighboring gene dynein regulatory complex subunit 3 Neighboring gene brain protein I3 pseudogene 3 Neighboring gene ribosomal protein S2 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (17 hits/1265 screens)

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Interactions

    General gene information

    Clone Names

    • FLJ21501, FLJ32746

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables clathrin binding  
    enables clathrin binding PubMed 
    enables phosphatidylinositol binding  
    enables protein binding PubMed 
    enables protein kinase binding PubMed 
    enables ubiquitin binding  
    Component Evidence Code Pubs
    is_active_in endosome  
    located_in extracellular exosome PubMed 
    is_active_in membrane  

    General protein information

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

    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.

    Genomic

    1. NG_053113.1 RefSeqGene

      Range
      5071..133960
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001033551.3 → NP_001028723.1  TOM1-like protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001028723.1

      Status: REVIEWED

      Source sequence(s)
      AC122129, BC051650, BM976586
      Consensus CDS
      CCDS32584.1
      UniProtKB/Swiss-Prot
      Q6ZVM7
      Related
      ENSP00000464297.1, ENST00000581396.6
      Conserved Domains (2) summary
      cd14238
      Location:168 → 259
      GAT_TM1L2; GAT domain found in target of Myb-like protein 2 (Tom1L2)
      cl02544
      Location:12 → 98
      VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily
    2. NM_001082968.2 → NP_001076437.1  TOM1-like protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001076437.1

      Status: REVIEWED

      Source sequence(s)
      AC122129, AK124331, BM976586, DA235267, DA335727
      Consensus CDS
      CCDS42270.1
      UniProtKB/Swiss-Prot
      B7Z2L7, B7Z7F4, Q6ZVM7, Q86V61, Q8TDE7, Q96M88
      Related
      ENSP00000368818.3, ENST00000379504.8
      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. NM_001288786.2 → NP_001275715.1  TOM1-like protein 2 isoform 4

      See identical proteins and their annotated locations for NP_001275715.1

      Status: REVIEWED

      Source sequence(s)
      AC122129, AK294846, AK301944, BM976586
      Consensus CDS
      CCDS74003.1
      UniProtKB/TrEMBL
      B7Z671
      Related
      ENSP00000438621.1, ENST00000535933.5
      Conserved Domains (2) summary
      cd16996
      Location:12 → 148
      VHS_Tom1L2; VHS (Vps27/Hrs/STAM) domain of TOM1-like protein 2
      cd14238
      Location:165 → 256
      GAT_TM1L2; canonical GAT domain found in target of Myb-like protein 2 (Tom1L2)
    4. NM_001288787.2 → NP_001275716.1  TOM1-like protein 2 isoform 5

      See identical proteins and their annotated locations for NP_001275716.1

      Status: REVIEWED

      Source sequence(s)
      AC122129, AK301944, BM976586, DA235267
      Consensus CDS
      CCDS74002.1
      UniProtKB/Swiss-Prot
      Q6ZVM7
      Related
      ENSP00000312860.10, ENST00000318094.14
      Conserved Domains (2) summary
      cd14238
      Location:173 → 264
      GAT_TM1L2; canonical GAT domain found in target of Myb-like protein 2 (Tom1L2)
      cl02544
      Location:12 → 123
      VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily
    5. NM_001288788.2 → NP_001275717.1  TOM1-like protein 2 isoform 6

      See identical proteins and their annotated locations for NP_001275717.1

      Status: REVIEWED

      Source sequence(s)
      AC122129, AK295111, AK301944, BM976586, DA235267
      Consensus CDS
      CCDS74001.1
      UniProtKB/TrEMBL
      B7Z2U2, B7Z671
      Related
      ENSP00000437655.1, ENST00000540946.5
      Conserved Domains (2) summary
      cl02544
      Location:12 → 123
      VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily; composed of proteins containing a VHS, ENTH or ANTH domain. The VHS domain is present in Vps27 (Vacuolar Protein Sorting), Hrs (Hepatocyte growth factor-regulated tyrosine kinase substrate) and STAM (Signal ...
      cl03906
      Location:122 → 211
      GAT_SF; GAT domain found in eukaryotic ADP-ribosylation factor (Arf)-binding proteins (GGAs), metazoan myb protein 1 (Tom1)-like proteins, and similar proteins
    6. NM_001288789.2 → NP_001275718.1  TOM1-like protein 2 isoform 7

      See identical proteins and their annotated locations for NP_001275718.1

      Status: REVIEWED

      Source sequence(s)
      AC122129, AK299872, AK301944, BM976586
      Consensus CDS
      CCDS74000.1
      UniProtKB/TrEMBL
      B7Z671, F5H3S6
      Related
      ENSP00000445188.1, ENST00000542206.5
      Conserved Domains (2) summary
      cl02544
      Location:12 → 73
      VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily; composed of proteins containing a VHS, ENTH or ANTH domain. The VHS domain is present in Vps27 (Vacuolar Protein Sorting), Hrs (Hepatocyte growth factor-regulated tyrosine kinase substrate) and STAM (Signal ...
      cl03906
      Location:73 → 161
      GAT_SF; GAT domain found in eukaryotic ADP-ribosylation factor (Arf)-binding proteins (GGAs), metazoan myb protein 1 (Tom1)-like proteins, and similar proteins
    7. NM_001350331.2 → NP_001337260.1  TOM1-like protein 2 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC122129, AK295111, AK301944, BM976586, DA235267
      Conserved Domains (2) summary
      cd14238
      Location:173 → 264
      GAT_TM1L2; canonical GAT domain found in target of Myb-like protein 2 (Tom1L2)
      cl02544
      Location:12 → 123
      VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily
    8. NM_001350332.2 → NP_001337261.1  TOM1-like protein 2 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC122129, AK294846, BC051650, BM976586
      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
    9. NM_001350333.2 → NP_001337262.1  TOM1-like protein 2 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC122129, AK294846, BC051650, BM976586
      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

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      17843511..17972400 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435389.1 → XP_047291345.1  TOM1-like protein 2 isoform X8

      UniProtKB/TrEMBL
      B7Z671
    2. XM_047435386.1 → XP_047291342.1  TOM1-like protein 2 isoform X5

    3. XM_011523662.2 → XP_011521964.1  TOM1-like protein 2 isoform X2

      Conserved Domains (2) summary
      cd14238
      Location:168 → 259
      GAT_TM1L2; GAT domain found in target of Myb-like protein 2 (Tom1L2)
      cl02544
      Location:12 → 98
      VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily
    4. XM_047435388.1 → XP_047291344.1  TOM1-like protein 2 isoform X7

      UniProtKB/TrEMBL
      B7Z671
    5. XM_005256466.2 → XP_005256523.1  TOM1-like protein 2 isoform X4

      See identical proteins and their annotated locations for XP_005256523.1

      UniProtKB/TrEMBL
      B7Z671
      Conserved Domains (2) summary
      cl02544
      Location:12 → 123
      VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily; composed of proteins containing a VHS, ENTH or ANTH domain. The VHS domain is present in Vps27 (Vacuolar Protein Sorting), Hrs (Hepatocyte growth factor-regulated tyrosine kinase substrate) and STAM (Signal ...
      cl03906
      Location:122 → 211
      GAT_SF; GAT domain found in eukaryotic ADP-ribosylation factor (Arf)-binding proteins (GGAs), metazoan myb protein 1 (Tom1)-like proteins, and similar proteins
    6. XM_005256462.2 → XP_005256519.1  TOM1-like protein 2 isoform X1

      Conserved Domains (2) summary
      cd14238
      Location:173 → 264
      GAT_TM1L2; canonical GAT domain found in target of Myb-like protein 2 (Tom1L2)
      cl02544
      Location:12 → 123
      VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily
    7. XM_024450589.2 → XP_024306357.1  TOM1-like protein 2 isoform X6

      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 ...
      cl03906
      Location:165 → 256
      GAT_SF; GAT domain found in eukaryotic ADP-ribosylation factor (Arf)-binding proteins (GGAs), metazoan myb protein 1 (Tom1)-like proteins, and similar proteins
    8. XM_047435385.1 → XP_047291341.1  TOM1-like protein 2 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      17790194..17919077 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315113.1 → XP_054171088.1  TOM1-like protein 2 isoform X8

      UniProtKB/TrEMBL
      B7Z671
    2. XM_054315110.1 → XP_054171085.1  TOM1-like protein 2 isoform X5

    3. XM_054315107.1 → XP_054171082.1  TOM1-like protein 2 isoform X2

    4. XM_054315112.1 → XP_054171087.1  TOM1-like protein 2 isoform X7

      UniProtKB/TrEMBL
      B7Z671
    5. XM_054315109.1 → XP_054171084.1  TOM1-like protein 2 isoform X4

      UniProtKB/TrEMBL
      B7Z671
    6. XM_054315106.1 → XP_054171081.1  TOM1-like protein 2 isoform X1

    7. XM_054315111.1 → XP_054171086.1  TOM1-like protein 2 isoform X6

    8. XM_054315108.1 → XP_054171083.1  TOM1-like protein 2 isoform X3

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