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    TMEM18 transmembrane protein 18 [ Homo sapiens (human) ]

    Gene ID: 129787, updated on 3-Nov-2024

    Summary

    Official Symbol
    TMEM18provided by HGNC
    Official Full Name
    transmembrane protein 18provided by HGNC
    Primary source
    HGNC:HGNC:25257
    See related
    Ensembl:ENSG00000151353 MIM:613220; AllianceGenome:HGNC:25257
    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
    lncND
    Summary
    Predicted to enable DNA binding activity. Involved in cell migration. Located in nuclear membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 18.2), thyroid (RPKM 13.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TMEM18 in Genome Data Viewer
    Location:
    2p25.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (663877..677406, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (663182..676877, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (663877..677406, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:551220-551720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:551721-552221 Neighboring gene long intergenic non-protein coding RNA 1875 Neighboring gene uncharacterized LOC105373352 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:562669-563218 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:582585-583784 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:602328-603527 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:608557-609756 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:620290-620879 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:660609-661184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:673893-674394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:674395-674894 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:676681-677446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15217 Neighboring gene TMEM18 divergent transcript Neighboring gene uncharacterized LOC105373479 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:690095-690594 Neighboring gene uncharacterized LOC105373358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:720518-721018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:725085-725586 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:726648-727445 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:727446-728242 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:729041-729836 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:729837-730634

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
    EBI GWAS Catalog
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    EBI GWAS Catalog
    Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
    EBI GWAS Catalog
    Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia.
    EBI GWAS Catalog
    Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
    EBI GWAS Catalog
    Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association data identifies novel susceptibility loci for obesity.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog
    Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network.
    EBI GWAS Catalog
    Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
    EBI GWAS Catalog
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    EBI GWAS Catalog
    Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: SH3YL1

    Clone Names

    • DKFZp434C1714

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in eating behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in energy homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nuclear membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001352680.2NP_001339609.1  transmembrane protein 18 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AA280711, AC092159, AI272939, AL137269, CK826537, DN601654, DN992874, DN998416, FN163096
      Consensus CDS
      CCDS86815.1
      Related
      ENSP00000347874.2, ENST00000355654.6
      Conserved Domains (1) summary
      pfam14770
      Location:5114
      TMEM18; Transmembrane protein 18
    2. NM_001352681.1NP_001339610.1  transmembrane protein 18 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC092159, AI272939, AL137269, BE958163, CK826537, DN601654, FN163096
      Consensus CDS
      CCDS86816.1
      UniProtKB/TrEMBL
      B5MBX8
      Related
      ENSP00000384347.3, ENST00000405941.3
      Conserved Domains (1) summary
      pfam14770
      Location:21130
      TMEM18; Transmembrane protein 18
    3. NM_152834.4NP_690047.2  transmembrane protein 18 isoform 1

      See identical proteins and their annotated locations for NP_690047.2

      Status: VALIDATED

      Source sequence(s)
      AC092159, AI272939, AL137269, CK826537, DN601654, FN163096
      Consensus CDS
      CCDS33141.1
      UniProtKB/Swiss-Prot
      D6W4X9, Q8N5H2, Q96B42, Q9NTH3
      Related
      ENSP00000281017.3, ENST00000281017.8
      Conserved Domains (1) summary
      pfam14770
      Location:14127
      TMEM18; Transmembrane protein 18

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      663877..677406 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      663182..676877 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)