Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54664
Gene name Gene Name - the full gene name approved by the HGNC.
Transmembrane protein 106B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMEM106B
Synonyms (NCBI Gene) Gene synonyms aliases
HLD16
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p21.3
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1554310600 G>A Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613413 22407 ENSG00000106460
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypomyelinating Leukodystrophy leukodystrophy, hypomyelinating, 16 rs1554310600 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or gastroesophageal reflux disease N/A N/A GWAS
Anorexia Anorexia nervosa N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Associations from Text Mining Disease 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