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    TMEM106B transmembrane protein 106B [ Homo sapiens (human) ]

    Gene ID: 54664, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM106Bprovided by HGNC
    Official Full Name
    transmembrane protein 106Bprovided by HGNC
    Primary source
    HGNC:HGNC:22407
    See related
    Ensembl:ENSG00000106460 MIM:613413; AllianceGenome:HGNC:22407
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HLD16
    Summary
    Enables ATPase binding activity. Involved in dendrite morphogenesis and lysosome localization. Located in endosome and lysosomal membrane. Implicated in hypomyelinating leukodystrophy 16. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 21.7), brain (RPKM 18.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM106B in Genome Data Viewer
    Location:
    7p21.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (12211294..12243367)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (12342181..12373955)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (12250920..12282993)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene thrombospondin type 1 domain containing 7A Neighboring gene Sharpr-MPRA regulatory region 6026 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:11871421-11871961 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:11871962-11872501 Neighboring gene THRAP3 pseudogene 3 Neighboring gene uncharacterized LOC124901589 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:12105584-12106783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25662 Neighboring gene H3K27ac hESC enhancers GRCh37_chr7:12250602-12251120 and GRCh37_chr7:12251121-12251637 Neighboring gene MPRA-validated peak6387 silencer Neighboring gene MPRA-validated peak6388 silencer Neighboring gene MPRA-validated peak6389 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:12368624-12369515 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:12442779-12443346 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:12443347-12443912 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:12444224-12444413 Neighboring gene uncharacterized LOC105375154 Neighboring gene von Willebrand factor D and EGF domains

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The Lysosomal Trafficking Transmembrane Protein 106B Is Linked to Cell Death. Suzuki H, et al. J Biol Chem, 2016 Oct 7. PMID 27563066, Free PMC Article
    2. Genome-wide CRISPR screening identifies TMEM106B as a proviral host factor for SARS-CoV-2. Baggen J, et al. Nat Genet, 2021 Apr. PMID 33686287
    3. rs1990622 variant associates with Alzheimer's disease and regulates TMEM106B expression in human brain tissues. Hu Y, et al. BMC Med, 2021 Jan 19. PMID 33461566, Free PMC Article
    4. A novel temporal-predominant neuro-astroglial tauopathy associated with TMEM106B gene polymorphism in FTLD/ALS-TDP. Llibre-Guerra JJ, et al. Brain Pathol, 2021 Mar. PMID 33314436, Free PMC Article
    5. The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion. Li Z, et al. Acta Neuropathol, 2020 Jan. PMID 31456032, Free PMC Article

    See all (110) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A common Alu insertion in the 3'UTR of TMEM106B is associated with risk of dementia.
      Title: A common Alu insertion in the 3'UTR of TMEM106B is associated with risk of dementia.
    2. Physiological and pathological functions of TMEM106B in neurodegenerative diseases.
      Title: Physiological and pathological functions of TMEM106B in neurodegenerative diseases.
    3. Association of TMEM106B with Cortical APOE Gene Expression in Neurodegenerative Conditions.
      Title: Association of TMEM106B with Cortical APOE Gene Expression in Neurodegenerative Conditions.
    4. TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia.
      Title: TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia.
    5. C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes.
      Title: C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes.
    6. The major TMEM106B dementia risk allele affects TMEM106B protein levels, fibril formation, and myelin lipid homeostasis in the ageing human hippocampus.
      Title: The major TMEM106B dementia risk allele affects TMEM106B protein levels, fibril formation, and myelin lipid homeostasis in the ageing human hippocampus.
    7. Superresolution live-cell imaging reveals that the localization of TMEM106B to filopodia in oligodendrocytes is compromised by the hypomyelination-related D252N mutation.
      Title: Superresolution live-cell imaging reveals that the localization of TMEM106B to filopodia in oligodendrocytes is compromised by the hypomyelination-related D252N mutation.
    8. TMEM106B Fibrils from FTLD Patients and Healthy Controls.
      Title: TMEM106B Fibrils from FTLD Patients and Healthy Controls.
    9. TMEM106B aggregation in neurodegenerative diseases: linking genetics to function.
      Title: TMEM106B aggregation in neurodegenerative diseases: linking genetics to function.
    10. TMEM106B is a receptor mediating ACE2-independent SARS-CoV-2 cell entry.
      Title: TMEM106B is a receptor mediating ACE2-independent SARS-CoV-2 cell entry.
    Submit: New GeneRIF Correction See all GeneRIFs (70)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Leukodystrophy, hypomyelinating, 16
    MedGen: C4693779 OMIM: 617964 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.
    EBI GWAS Catalog
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    EBI GWAS Catalog
    Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
    EBI GWAS Catalog
    Genome-wide association study of Tourette's syndrome.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11273, MGC33727

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in dendrite morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dendrite morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lysosomal lumen acidification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lysosomal protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lysosomal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lysosome localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lysosome localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lysosome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuron cellular homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of dendrite development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of lysosome organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 106B

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001134232.2 → NP_001127704.1  transmembrane protein 106B

      See identical proteins and their annotated locations for NP_001127704.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC007321, BC033901, DA452299
      Consensus CDS
      CCDS5358.1
      UniProtKB/Swiss-Prot
      A4D108, Q53FL9, Q8N4L0, Q9NUM4
      UniProtKB/TrEMBL
      A0A994J4M3
      Related
      ENSP00000379902.3, ENST00000396668.8
      Conserved Domains (1) summary
      pfam07092
      Location:32 → 258
      DUF1356; Protein of unknown function (DUF1356)

    2. NM_018374.4 → NP_060844.2  transmembrane protein 106B

      See identical proteins and their annotated locations for NP_060844.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC007321, BC033901, DA452299
      Consensus CDS
      CCDS5358.1
      UniProtKB/Swiss-Prot
      A4D108, Q53FL9, Q8N4L0, Q9NUM4
      UniProtKB/TrEMBL
      A0A994J4M3
      Related
      ENSP00000379901.2, ENST00000396667.7
      Conserved Domains (1) summary
      pfam07092
      Location:32 → 258
      DUF1356; Protein of unknown function (DUF1356)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      12211294..12243367
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      12342181..12373955
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NUM4.2 GenPept UniProtKB/Swiss-Prot:Q9NUM4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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