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

    Gene ID: 54664, updated on 27-Nov-2024

    Summary

    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, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 21.7), brain (RPKM 18.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001134232.2NP_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:32258
      DUF1356; Protein of unknown function (DUF1356)
    2. NM_018374.4NP_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:32258
      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)