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    TMEM168 transmembrane protein 168 [ Homo sapiens (human) ]

    Gene ID: 64418, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TMEM168provided by HGNC
    Official Full Name
    transmembrane protein 168provided by HGNC
    Primary source
    HGNC:HGNC:25826
    See related
    Ensembl:ENSG00000146802 AllianceGenome:HGNC:25826
    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
    Summary
    Enables sodium channel regulator activity. Predicted to act upstream of or within regulation of ubiquitin-dependent protein catabolic process and regulation of voltage-gated sodium channel activity. Located in nuclear membrane and transport vesicle. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in skin (RPKM 6.2), colon (RPKM 5.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM168 in Genome Data Viewer
    Location:
    7q31.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (112762377..112790393, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (114080668..114108691, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (112402432..112430448, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928012 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:112286368-112287110 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:112287111-112287851 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:112288143-112288644 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:112332541-112332766 Neighboring gene mitochondrial intermediate peptidase pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26515 Neighboring gene uncharacterized LOC124901729 Neighboring gene S-adenosylmethionine sensor upstream of mTORC1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26517 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26519 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:112556531-112557032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:112557033-112557532 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18545 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:112579888-112580404

    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. Inhibition of Proliferation by Knockdown of Transmembrane (TMEM) 168 in Glioblastoma Cells via Suppression of Wnt/β-Catenin Pathway. Xu J, et al. Oncol Res, 2019 Jul 12. PMID 30940290, Free PMC Article
    2. Identification of transmembrane protein 168 mutation in familial Brugada syndrome. Shimizu A, et al. FASEB J, 2020 May. PMID 32175648
    3. Transmembrane protein 168 mutation reduces cardiomyocyte cell surface expression of Nav1.5 through αB-crystallin intracellular dynamics. Nguyen LKC, et al. J Biochem, 2021 Dec 28. PMID 34086898
    4. A yeast two-hybrid screen reveals that osteopontin associates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. Long P, et al. Eur J Neurosci, 2012 Sep. PMID 22779921
    5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. Trynka G, et al. Gut, 2009 Aug. PMID 19240061

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transmembrane protein 168 mutation reduces cardiomyocyte cell surface expression of Nav1.5 through alphaB-crystallin intracellular dynamics.
      Title: Transmembrane protein 168 mutation reduces cardiomyocyte cell surface expression of Nav1.5 through αB-crystallin intracellular dynamics.
    2. Identification of transmembrane protein 168 mutation in familial Brugada syndrome.
      Title: Identification of transmembrane protein 168 mutation in familial Brugada syndrome.
    3. Data suggested that siRNA-TMEM168 (siTMEM168) prevented viability of U87 and U373 cells, induced cell cycle arrest (G0/G1 phase) and promoted apoptosis, and the mechanisms involved in blocking Wnt/beta-catenin pathway, as evidenced by reducing expression of beta-catenin, C-myc, cyclin D1, and survivin.
      Title: Inhibition of Proliferation by Knockdown of Transmembrane (TMEM) 168 in Glioblastoma Cells via Suppression of Wnt/β-Catenin Pathway.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    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

    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

    • FLJ13576, DKFZp564C012

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables sodium channel regulator activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in transport vesicle IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 168

    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_001287497.2 → NP_001274426.1  transmembrane protein 168

      See identical proteins and their annotated locations for NP_001274426.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the supported protein. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC079621, AI698728, AK025482
      Consensus CDS
      CCDS5757.1
      UniProtKB/Swiss-Prot
      A4D0T9, B4DDS0, Q8NEK4, Q9H0V1, Q9H8J2
      Related
      ENSP00000390696.1, ENST00000454074.5
      Conserved Domains (1) summary
      cd21494
      Location:17 → 695
      TMEM168; Transmembrane (TMEM) protein family 168

    2. NM_022484.6 → NP_071929.3  transmembrane protein 168

      See identical proteins and their annotated locations for NP_071929.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC079621, AI698728, AK314460, DC416793
      Consensus CDS
      CCDS5757.1
      UniProtKB/Swiss-Prot
      A4D0T9, B4DDS0, Q8NEK4, Q9H0V1, Q9H8J2
      Related
      ENSP00000323068.4, ENST00000312814.11
      Conserved Domains (1) summary
      cd21494
      Location:17 → 695
      TMEM168; Transmembrane (TMEM) protein family 168

    RNA

    1. NR_109840.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons in the 5' region, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet Refseq quality criteria.
      Source sequence(s)
      AC079621, AI698728, AK293311, DC416793

    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
      112762377..112790393 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012523.3 → XP_016868012.1  transmembrane protein 168 isoform X1

      UniProtKB/Swiss-Prot
      A4D0T9, B4DDS0, Q8NEK4, Q9H0V1, Q9H8J2
      Conserved Domains (1) summary
      cd21494
      Location:17 → 695
      TMEM168; Transmembrane (TMEM) protein family 168

    2. XM_047420710.1 → XP_047276666.1  transmembrane protein 168 isoform X1

      UniProtKB/Swiss-Prot
      A4D0T9, B4DDS0, Q8NEK4, Q9H0V1, Q9H8J2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      114080668..114108691 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358804.1 → XP_054214779.1  transmembrane protein 168 isoform X1

      UniProtKB/Swiss-Prot
      A4D0T9, B4DDS0, Q8NEK4, Q9H0V1, Q9H8J2

    2. XM_054358803.1 → XP_054214778.1  transmembrane protein 168 isoform X1

      UniProtKB/Swiss-Prot
      A4D0T9, B4DDS0, Q8NEK4, Q9H0V1, Q9H8J2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H0V1.2 GenPept UniProtKB/Swiss-Prot:Q9H0V1

    Gene LinkOut

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

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