1. Gene
  2. TOM1L2 - target of myb1 like 2 membrane trafficking protein Gene

TOM1L2 - target of myb1 like 2 membrane trafficking protein Gene

Homo sapiens
Gene ID: 146691 | Gene type: protein coding

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 Reference 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 Reference 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 Reference
Intra
TOM1L2 Q6ZVM7 TOLLIP Homo sapiens Q9H0E2 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

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