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

Gene ID: 146691, updated on 5-Aug-2018

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; Vega:OTTHUMG00000059353
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

Genomic context

See TOM1L2 in Genome Data Viewer
Location:
17p11.2
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (17843508..17972470, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (17746822..17875784, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene microRNA 6777 Neighboring gene sterol regulatory element binding transcription factor 1 Neighboring gene microRNA 33b Neighboring gene uncharacterized LOC107984989 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: 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21501, FLJ32746

Gene Ontology Provided by GOA

Function Evidence Code Pubs
clathrin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
negative regulation of mitotic nuclear division IDA
Inferred from Direct Assay
more info
PubMed 
signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
intracellular IEA
Inferred from Electronic Annotation
more info
 

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)

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
    5001..133963
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001033551.2NP_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, DA235267
    Consensus CDS
    CCDS32584.1
    UniProtKB/Swiss-Prot
    Q6ZVM7
    Related
    ENSP00000464297.1, OTTHUMP00000065656, ENST00000581396.5, OTTHUMT00000131929
    Conserved Domains (2) summary
    cd14238
    Location:168259
    GAT_TM1L2; GAT domain found in target of Myb-like protein 2 (Tom1L2)
    cl02544
    Location:12102
    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 ...
  2. NM_001082968.1NP_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
    Q6ZVM7
    Related
    ENSP00000368818.3, OTTHUMP00000065655, ENST00000379504.7, OTTHUMT00000131928
    Conserved Domains (2) summary
    cd03565
    Location:12152
    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:218309
    GAT_TM1L2; GAT domain found in target of Myb-like protein 2 (Tom1L2)
  3. NM_001288786.1NP_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, DA235267
    Consensus CDS
    CCDS74003.1
    UniProtKB/Swiss-Prot
    Q6ZVM7
    Related
    ENSP00000438621.1, OTTHUMP00000259995, ENST00000535933.5, OTTHUMT00000443248
    Conserved Domains (2) summary
    cd03565
    Location:12152
    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:165256
    GAT_SF; GAT domain found in eukaryotic ADP-ribosylation factor (Arf)-binding proteins (GGAs), metazoan myb protein 1 (Tom1)-like proteins, and similar proteins
  4. NM_001288787.1NP_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, OTTHUMP00000259994, ENST00000318094.14, OTTHUMT00000443246
    Conserved Domains (2) summary
    cd14238
    Location:173264
    GAT_TM1L2; GAT domain found in target of Myb-like protein 2 (Tom1L2)
    cl02544
    Location:12123
    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 ...
  5. NM_001288788.1NP_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/Swiss-Prot
    Q6ZVM7
    UniProtKB/TrEMBL
    B7Z2U2
    Related
    ENSP00000437655.1, OTTHUMP00000259996, ENST00000540946.5, OTTHUMT00000443249
    Conserved Domains (2) summary
    cl02544
    Location:12123
    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:122211
    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_001288789.1NP_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, DA235267
    Consensus CDS
    CCDS74000.1
    UniProtKB/Swiss-Prot
    Q6ZVM7
    UniProtKB/TrEMBL
    B7Z671, F5H3S6
    Related
    ENSP00000445188.1, OTTHUMP00000259997, ENST00000542206.5, OTTHUMT00000443250
    Conserved Domains (2) summary
    cl02544
    Location:1273
    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:73161
    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_001350331.1NP_001337260.1  TOM1-like protein 2 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC122129, AK295111, AK301944, BM976586, DA235267
    Conserved Domains (2) summary
    cd14238
    Location:173264
    GAT_TM1L2; GAT domain found in target of Myb-like protein 2 (Tom1L2)
    cl02544
    Location:12123
    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 ...
  8. NM_001350332.1NP_001337261.1  TOM1-like protein 2 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC122129, AK294846, BC051650, BM976586, DA235267
    Conserved Domains (2) summary
    cd03565
    Location:12152
    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:218309
    GAT_TM1L2; GAT domain found in target of Myb-like protein 2 (Tom1L2)
  9. NM_001350333.1NP_001337262.1  TOM1-like protein 2 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC122129, AK294846, BC051650, BM976586, DA235267
    Conserved Domains (2) summary
    cd03565
    Location:12152
    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:218309
    GAT_TM1L2; GAT domain found in target of Myb-like protein 2 (Tom1L2)

RefSeqs of Annotated Genomes: Homo sapiens 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 GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    17843508..17972470 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (2) summary
    cd14238
    Location:168259
    GAT_TM1L2; GAT domain found in target of Myb-like protein 2 (Tom1L2)
    cl02544
    Location:12102
    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 ...
  2. XM_005256466.1XP_005256523.1  TOM1-like protein 2 isoform X3

    See identical proteins and their annotated locations for XP_005256523.1

    Conserved Domains (2) summary
    cl02544
    Location:12123
    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:122211
    GAT_SF; GAT domain found in eukaryotic ADP-ribosylation factor (Arf)-binding proteins (GGAs), metazoan myb protein 1 (Tom1)-like proteins, and similar proteins
  3. XM_005256462.1XP_005256519.1  TOM1-like protein 2 isoform X1

    Conserved Domains (2) summary
    cd14238
    Location:173264
    GAT_TM1L2; GAT domain found in target of Myb-like protein 2 (Tom1L2)
    cl02544
    Location:12123
    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 ...
  4. XM_024450589.1XP_024306357.1  TOM1-like protein 2 isoform X4

    Conserved Domains (2) summary
    cd03565
    Location:12152
    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:165256
    GAT_SF; GAT domain found in eukaryotic ADP-ribosylation factor (Arf)-binding proteins (GGAs), metazoan myb protein 1 (Tom1)-like proteins, and similar proteins

RNA

  1. XR_933976.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_144678.3: Suppressed sequence

    Description
    NM_144678.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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