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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
40
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Leukodystrophy, hypomyelinating, 16 Likely pathogenic; Pathogenic rs1554310600 RCV000626490
★★★★☆
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANGIOEDEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER 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
Abulia Abulia HPO_DG
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 25851827
★☆☆☆☆
Found in Text Mining only
Alexia Alexia HPO_DG
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 21220649, 24899141, 25653292, 25778476, 29970152, 31456032, 32492070, 33461566, 34854996, 36191742, 37726834, 37794492, 39273172 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 24166182
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 21104415, 23136129, 25085782
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 21104415, 23136129, 33314436, 34152475, 36012536, 40316175 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic Lateral Sclerosis BEFREE 28477711
★☆☆☆☆
Found in Text Mining only
Anomia Anomia HPO_DG
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only