Gene Gene information from NCBI Gene database.
Entrez ID 146691
Gene name Target of myb1 like 2 membrane trafficking protein
Gene symbol TOM1L2
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17p11.2
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
miRNA miRNA information provided by mirtarbase database.
618
miRTarBase ID miRNA Experiments Reference
MIRT019484 hsa-miR-148b-3p Microarray 17612493
MIRT020320 hsa-miR-130b-3p Sequencing 20371350
MIRT030189 hsa-miR-26b-5p Microarray 19088304
MIRT031250 hsa-miR-19b-3p Sequencing 20371350
MIRT652282 hsa-miR-3943 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16412388, 20936779, 23023224, 32296183, 33961781, 35271311
GO:0005768 Component Endosome IBA
GO:0007165 Process Signal transduction IBA
GO:0007165 Process Signal transduction IDA 16479011
GO:0015031 Process Protein transport IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615519 11984 ENSG00000175662
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZVM7
Protein name TOM1-like protein 2 (Target of Myb-like protein 2)
Protein function Acts as a MYO6/Myosin VI adapter protein that targets myosin VI to endocytic structures (PubMed:23023224). May also play a role in recruiting clathrin to endosomes (PubMed:16412388). May regulate growth factor-induced mitogenic signaling (PubMed
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00790 VHS 7 148 VHS domain Domain
PF03127 GAT 232 308 GAT domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed with higher expression in heart and skeletal muscle. {ECO:0000269|PubMed:11997338}.
Sequence
MEFLLGNPFSTPVGQCLEKATDGSLQSEDWTLNMEICDIINETEEGPKDAIRALKKRLNG
NRNYREVMLALTVLETCVKNCGHRFHILVANRDFIDSVLVKIISPKNNPPTIVQDKVLAL
IQAWADAFRSSPDLTGVVHIYEELKRKG
VEFPMADLDALSPIHTPQRSVPEVDPAATMPR
SQSQQRTSAGSYSSPPPAPYSAPQAPALSVTGPITANSEQIARLRSELDVVRGNTKVMSE
MLTEMVPGQEDSSDLELLQELNRTCRAMQQRIVELISRVSNEEVTEELLHVNDDLNNVFL
RYERFERY
RSGRSVQNASNGVLNEVTEDNLIDLGPGSPAVVSPMVGNTAPPSSLSSQLAG
LDLGTESVSGTLSSLQQCNPRDGFDMFAQTRGNSLAEQRKTVTYEDPQAVGGLASALDNR
KQSSEGIPVAQPSVMDDIEVWLRTDLKGDDLEEGVTSEEFDKFLEERAKAAEMVPDLPSP
PMEAPAPASNPSGRKKPERSEDALFAL
Sequence length 507
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 20167577 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 36759259 Inhibit
★☆☆☆☆
Found in Text Mining only
Dementia Dementia BEFREE 20167577
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Dementia Dementia Pubtator 20167577 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Diabetes mellitus Pubtator 17019602 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 17019602 Associate
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 18343975
★☆☆☆☆
Found in Text Mining only
Presenile dementia Senile Dementia BEFREE 20167577
★☆☆☆☆
Found in Text Mining only
Pulmonary Fibrosis Pulmonary fibrosis Pubtator 36769106 Associate
★☆☆☆☆
Found in Text Mining only
Rhabdomyosarcoma Alveolar Rhabdomyosarcoma Pubtator 36232302 Associate
★☆☆☆☆
Found in Text Mining only