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TMEM168 transmembrane protein 168 [ Homo sapiens (human) ]

Gene ID: 64418, updated on 2-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
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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 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)

Genotypes

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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