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    TMEM108 transmembrane protein 108 [ Homo sapiens (human) ]

    Gene ID: 66000, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TMEM108provided by HGNC
    Official Full Name
    transmembrane protein 108provided by HGNC
    Primary source
    HGNC:HGNC:28451
    See related
    Ensembl:ENSG00000144868 MIM:617361; AllianceGenome:HGNC:28451
    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
    RTLN; CT124
    Summary
    Predicted to be involved in several processes, including cellular response to brain-derived neurotrophic factor stimulus; nervous system development; and regulation of signal transduction. Predicted to be located in somatodendritic compartment. Predicted to be active in several cellular components, including endosome; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 3.1), testis (RPKM 2.8) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM108 in Genome Data Viewer
    Location:
    3q22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (133038391..133397775)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (135782799..136142525)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (132757235..133116619)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene NPHP3-ACAD11 readthrough (NMD candidate) Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:132411873-132412374 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:132412375-132412874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20540 Neighboring gene NPHP3 antisense RNA 1 Neighboring gene nephrocystin 3 Neighboring gene uncharacterized LOC105374115 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_64751 Neighboring gene NANOG hESC enhancer GRCh37_chr3:132598533-132599069 Neighboring gene MPRA-validated peak4836 silencer Neighboring gene Sharpr-MPRA regulatory region 13907 Neighboring gene Sharpr-MPRA regulatory region 9074 Neighboring gene TMEM108 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:132996224-132997423 Neighboring gene uncharacterized LOC101927432 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20541 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20542 Neighboring gene BFSP2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20543 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20544 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:133192065-133192724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20545 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:133206223-133206723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20548 Neighboring gene beaded filament structural protein 2 Neighboring gene MAF1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The Candidate Schizophrenia Risk Gene Tmem108 Regulates Glucose Metabolism Homeostasis. Yu J, et al. Front Endocrinol (Lausanne), 2021. PMID 34690937, Free PMC Article
    2. A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications. Heath AC, et al. Biol Psychiatry, 2011 Sep 15. PMID 21529783, Free PMC Article
    3. A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. Ramasamy A, et al. J Allergy Clin Immunol, 2011 Nov. PMID 22036096
    4. Notch3 interactome analysis identified WWP2 as a negative regulator of Notch3 signaling in ovarian cancer. Jung JG, et al. PLoS Genet, 2014 Oct. PMID 25356737, Free PMC Article
    5. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Elks CE, et al. Nat Genet, 2010 Dec. PMID 21102462, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
    EBI GWAS Catalog
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    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

    • MGC3040

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to brain-derived neurotrophic factor stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in dendrite extension IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dendrite extension ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in dentate gyrus development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in modulation of excitatory postsynaptic potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of neurotrophin TRK receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in postsynaptic density organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in postsynaptic density organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in receptor-mediated endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in retrograde axonal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde axonal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axon ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in early endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in postsynaptic density IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in postsynaptic density membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in somatodendritic compartment ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 108
    Names
    cancer/testis antigen 124
    retrolinkin

    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_001136469.3 → NP_001129941.1  transmembrane protein 108 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001129941.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variant 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AC018472, AC055753, AC079942, AC092984
      Consensus CDS
      CCDS33858.1
      UniProtKB/Swiss-Prot
      D3DNC9, Q6UXF1, Q9BQH1, Q9BW81, Q9C0H3
      UniProtKB/TrEMBL
      E9PB58
      Related
      ENSP00000376838.3, ENST00000393130.7
      Conserved Domains (1) summary
      pfam15759
      Location:63 → 575
      TMEM108; TMEM108 family

    2. NM_001282865.2 → NP_001269794.1  transmembrane protein 108 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001269794.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC018472, AC055753, AC092984
      Consensus CDS
      CCDS75012.1
      UniProtKB/TrEMBL
      B3KT64
      Related
      ENSP00000424897.1, ENST00000508711.5
      Conserved Domains (1) summary
      pfam15759
      Location:14 → 105
      TMEM108; TMEM108 family

    3. NM_023943.4 → NP_076432.1  transmembrane protein 108 isoform 1 precursor

      See identical proteins and their annotated locations for NP_076432.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variant 1 and 2 encode the same isoform.
      Source sequence(s)
      AC018472, AC055753, AC079942, AC092984
      Consensus CDS
      CCDS33858.1
      UniProtKB/Swiss-Prot
      D3DNC9, Q6UXF1, Q9BQH1, Q9BW81, Q9C0H3
      UniProtKB/TrEMBL
      E9PB58
      Related
      ENSP00000324651.6, ENST00000321871.11
      Conserved Domains (1) summary
      pfam15759
      Location:63 → 575
      TMEM108; TMEM108 family

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      133038391..133397775
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      135782799..136142525
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UXF1.2 GenPept UniProtKB/Swiss-Prot:Q6UXF1

    Gene LinkOut

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

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