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TMEM18 transmembrane protein 18 [ Homo sapiens (human) ]

Gene ID: 129787, updated on 7-Dec-2018

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
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
Expression
Ubiquitous expression in ovary (RPKM 18.2), thyroid (RPKM 13.8) and 25 other tissues See more
Orthologs

Genomic context

See TMEM18 in Genome Data Viewer
Location:
2p25.3
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (663877..677468, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (667793..677439, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1875 Neighboring gene uncharacterized LOC105373352 Neighboring gene uncharacterized LOC105373354 Neighboring gene uncharacterized LOC105373479 Neighboring gene uncharacterized LOC105373358

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

General gene information

Markers

Potential readthrough

Included gene: SH3YL1

Homology

Clone Names

  • DKFZp434C1714

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell migration IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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_001352680.1NP_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
    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
    Q96B42
    Related
    ENSP00000281017.3, ENST00000281017.7
    Conserved Domains (1) summary
    pfam14770
    Location:14127
    TMEM18; Transmembrane protein 18

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    663877..677468 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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