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

Gene ID: 116441, updated on 2-Nov-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 active in membrane. [provided by Alliance of Genome Resources, Nov 2024]
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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See TM4SF18 in Genome Data Viewer
Location:
3q25.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (149318498..149333636, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (152069260..152084394, complement)
RS_2024_09 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 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_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
    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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