Gene Gene information from NCBI Gene database.
Entrez ID 54664
Gene name Transmembrane protein 106B
Gene symbol TMEM106B
Synonyms (NCBI Gene)
HLD16
Chromosome 7
Chromosome location 7p21.3
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1554310600 G>A Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
764
miRTarBase ID miRNA Experiments Reference
MIRT019872 hsa-miR-375 Microarray 20215506
MIRT047527 hsa-miR-10a-5p CLASH 23622248
MIRT046151 hsa-miR-30b-5p CLASH 23622248
MIRT037240 hsa-miR-877-5p CLASH 23622248
MIRT553571 hsa-miR-5011-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24357581, 32296183, 32814053, 35271311
GO:0005764 Component Lysosome IDA
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IBA
GO:0005765 Component Lysosomal membrane IDA 24357581
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613413 22407 ENSG00000106460
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NUM4
Protein name Transmembrane protein 106B
Protein function In neurons, involved in the transport of late endosomes/lysosomes (PubMed:25066864). May be involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking (PubMed:25066864). May act as a molecular brake for retrograde tra
PDB 7QVC , 7QVF , 7QWG , 7QWL , 7QWM , 7SAQ , 7SAR , 7SAS , 7TMC , 7U10 , 7U11 , 7U12 , 7U13 , 7U14 , 7U15 , 7U16 , 7U17 , 7U18 , 7X83 , 7X84 , 8B7D , 8F9K , 8J7N , 8J7P , 8OTD , 8OTE , 8X5H , 9FNB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07092 DUF1356 27 258 Protein of unknown function (DUF1356) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain, including in the frontal cortex (at protein level) (PubMed:35247328, PubMed:35344985). Expressed in lung epithelial cells (PubMed:33686287). {ECO:0000269|PubMed:33686287, ECO:0000269|PubMed:35247328, ECO:0000269
Sequence
Sequence length 274
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
18
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Leukodystrophy, hypomyelinating, 16 Likely pathogenic; Pathogenic rs1554310600 RCV000626490
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs139417104 RCV005867117
Familial pancreatic carcinoma Benign rs139417104 RCV005867115
Lymphoma Benign rs139417104 RCV005867116
Nonpapillary renal cell carcinoma Benign rs139417104 RCV005867114
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 37530644
Absent radii and thrombocytopenia Associate 31376286
Alzheimer Disease Associate 21220649, 24899141, 25653292, 25778476, 29970152, 31456032, 32492070, 33461566, 34854996, 36191742, 37726834, 37794492, 39273172
Amyotrophic Lateral Sclerosis Associate 21104415, 23136129, 33314436, 34152475, 36012536, 40316175
Astrocytoma Associate 28299358
Brain Damage Chronic Associate 28460069
Brain Diseases Associate 28330615
Cerebral Amyloid Angiopathy Associate 38514782
Chronic Traumatic Encephalopathy Associate 26518018, 30390709
Cognition Disorders Associate 21104415, 23136129, 28330615, 30973966, 31456032, 34854996, 36012536