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TMEM18 transmembrane protein 18 [ Homo sapiens (human) ]

Gene ID: 129787, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in ovary (RPKM 18.2), thyroid (RPKM 13.8) and 25 other tissues See more
Orthologs
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Genomic context

See TMEM18 in Genome Data Viewer
Location:
2p25.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (663877..677406, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (663182..676877, complement)
105.20220307 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
  • 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
 
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)

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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_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_2023_10

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)