TOM1L2 - target of myb1 like 2 membrane trafficking protein Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 146691

About TOM1L2

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:17,843,511-17,972,400 (from NCBI)

This gene has 14 transcripts (splice variants), 288 orthologues and 10 paralogues. Broad expression in heart (RPKM 43.2), brain (RPKM 27.4) and 23 other tissues.

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]

TOM1L2 Products (9)

mRNA Protein Name
NM_001033551.3 NP_001028723.1 TOM1-like protein 2 isoform 1
NM_001082968.2 NP_001076437.1 TOM1-like protein 2 isoform 3
NM_001288786.2 NP_001275715.1 TOM1-like protein 2 isoform 4
NM_001288787.2 NP_001275716.1 TOM1-like protein 2 isoform 5
NM_001288788.2 NP_001275717.1 TOM1-like protein 2 isoform 6
NM_001288789.2 NP_001275718.1 TOM1-like protein 2 isoform 7
NM_001350331.2 NP_001337260.1 TOM1-like protein 2 isoform 8
NM_001350332.2 NP_001337261.1 TOM1-like protein 2 isoform 9
NM_001350333.2 NP_001337262.1 TOM1-like protein 2 isoform 10

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables clathrin binding IDA
IDA: Inferred from direct assay
16412388 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16412388 GOA
enables protein kinase binding IPI
IPI: Inferred from physical interaction
16479011 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of mitotic nuclear division IDA
IDA: Inferred from direct assay
16479011 GOA
involved in signal transduction IDA
IDA: Inferred from direct assay
16479011 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TOM1L2 Protein Structure

VHS

VHS: VHS domain (8 - 148)

GAT

GAT: GAT domain (217 - 313)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 507 a.a.
Protein Preferred Names Protein Names

TOM1-like protein 2

  • target of Myb-like protein 2

TOM1L2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TOM1L2 Q6ZVM7 TOLLIP Homo sapiens Q9H0E2
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Smith-Magenis Syndrome

  • SMS

  • Chromosome 17p11.2 Deletion Syndrome

  • 17p11.2 Microdeletion Syndrome

  • 17p11.2 Monosomy

  • Chromosome 17p Deletion Syndrome

  • Del(17)

  • P11.2

  • 17p- Syndrome

  • Deletion 17p Syndrome

  • Partial Monosomy 17p
Patella, Chondromalacia Of

  • Chondromalacia Patellae

  • Chondromalacia Of Patella

  • Softening Of Articular Cartilage Of Patella

  • Patellofemoral Pain Syndrome

  • Patellofemoral Chondromalacia
Immunodeficiency 73a With Defective Neutrophil Chemotaxis And Leukocytosis

  • Neutrophil Immunodeficiency Syndrome

  • IMD73A

  • Immunodeficiency 73a With Defective Neutrophil Chemotaxix And Leukocytosis

  • Immunodeficiency, Type 73a, With Defective Neutrophil Chemotaxix And Leukocytosis

  • Rac 2 Deficiency
Retinitis Pigmentosa 39

  • RP39

  • Retinitis Pigmentosa, Type 39
Mitochondrial Complex I Deficiency, Nuclear Type 1

  • Mitochondrial Complex I Deficiency

  • Nadh:Q(1) Oxidoreductase Deficiency

  • MC1DN1

  • Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Mitochondrial Respiratory Chain Complex I Deficiency

  • Isolated Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Nadh-Coq Reductase Deficiency

  • Isolated Nadh-Ubiquinone Reductase Deficiency

  • Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

  • Nuclear Type Mitochondrial Complex I Deficiency 1

  • Isolated Complex I Deficiency

  • Complex 1 Mitochondrial Respiratory Chain Deficiency

  • Nadh Coenzyme Q Reductase Deficiency

  • Complex I Mitochondrial Respiratory Chain Deficiency

  • Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

  • Nadh:Ubiquinone Oxidoreductase Deficiency

  • Complex I, Mitochondrial Respiratory Chain, Deficiency Of
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS14878 TOM1L2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus TOM1L2 RGD RGD:1306728
Canis familiaris TOM1L2 VGNC VGNC:47709
Bos taurus TOM1L2 VGNC VGNC:36219
Macaca mulatta TOM1L2 VGNC VGNC:78617
Mus musculus TOM1L2 MGD MGI:2443306
Felis catus TOM1L2 VGNC VGNC:66442
Others TOM1L2 NCBI