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    TM4SF18 transmembrane 4 L six family member 18 [ Homo sapiens (human) ]

    Gene ID: 116441, updated on 2-May-2024

    Summary

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    Official Symbol
    TM4SF18provided by HGNC
    Official Full Name
    transmembrane 4 L six family member 18provided by HGNC
    Primary source
    HGNC:HGNC:25181
    See related
    Ensembl:ENSG00000163762 AllianceGenome:HGNC:25181
    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
    L6D
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in spleen (RPKM 15.9), fat (RPKM 12.5) and 21 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    3q25.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (149318498..149333636, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (152069260..152084394, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (149036285..149051423, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20680 Neighboring gene ceruloplasmin and hephaestin like 1, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:148987331-148988530 Neighboring gene TM4SF18 antisense RNA 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_65218 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:149057296-149058495 Neighboring gene ribosomal protein S25 pseudogene 5 Neighboring gene transmembrane 4 L six family member 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. Immune-related gene TM4SF18 could promote the metastasis of gastric cancer cells and predict the prognosis of gastric cancer patients. Qin X, et al. Mol Oncol, 2022 Dec. PMID 36209368, Free PMC Article
    2. TM4SF18 is aberrantly expressed in pancreatic cancer and regulates cell growth. Singhal M, et al. PLoS One, 2019. PMID 30897168, Free PMC Article
    3. The L6 membrane proteins--a new four-transmembrane superfamily. Wright MD, et al. Protein Sci, 2000 Aug. PMID 10975581, Free PMC Article
    4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Immune-related gene TM4SF18 could promote the metastasis of gastric cancer cells and predict the prognosis of gastric cancer patients.
      Title: Immune-related gene TM4SF18 could promote the metastasis of gastric cancer cells and predict the prognosis of gastric cancer patients.
    2. TM4SF18 is highly expressed in pancreatic ductal adenocarcinoma (PDAC) tumor epithelium, expressed in normal acinar tissue and weakly expressed in normal ducts. Although there is minimal expression in normal ducts, study observed increased TM4SF18 levels in preneoplastic ducts and tumor epithelium. Knockdown of the TM4SF18 protein led to a significant decrease in Capan-1 cell growth.
      Title: TM4SF18 is aberrantly expressed in pancreatic cancer and regulates cell growth.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane 4 L6 family member 18

    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_001184723.2 → NP_001171652.1  transmembrane 4 L6 family member 18

      See identical proteins and their annotated locations for NP_001171652.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC093001, BF213446, CA454331
      Consensus CDS
      CCDS3142.1
      UniProtKB/Swiss-Prot
      B2R8K0, D3DNH5, Q96CE8
      Related
      ENSP00000419278.1, ENST00000470080.5
      Conserved Domains (1) summary
      pfam05805
      Location:1 → 193
      L6_membrane; L6 membrane protein

    2. NM_138786.4 → NP_620141.1  transmembrane 4 L6 family member 18

      See identical proteins and their annotated locations for NP_620141.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC093001, BC014339, DB282139
      Consensus CDS
      CCDS3142.1
      UniProtKB/Swiss-Prot
      B2R8K0, D3DNH5, Q96CE8
      Related
      ENSP00000296059.2, ENST00000296059.7
      Conserved Domains (1) summary
      pfam05805
      Location:1 → 193
      L6_membrane; L6 membrane protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      149318498..149333636 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      152069260..152084394 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96CE8.1 GenPept UniProtKB/Swiss-Prot:Q96CE8

    Gene LinkOut

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

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