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TMEM108 transmembrane protein 108 [ Homo sapiens (human) ]

Gene ID: 66000, updated on 5-Mar-2024

Summary

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Official Symbol
TMEM108provided by HGNC
Official Full Name
transmembrane protein 108provided by HGNC
Primary source
HGNC:HGNC:28451
See related
Ensembl:ENSG00000144868 MIM:617361; AllianceGenome:HGNC:28451
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
RTLN; CT124
Summary
Predicted to be involved in several processes, including cellular response to brain-derived neurotrophic factor stimulus; nervous system development; and regulation of signal transduction. Predicted to be located in somatodendritic compartment. Predicted to be active in axon; endosome; and postsynaptic density. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in brain (RPKM 3.1), testis (RPKM 2.8) and 19 other tissues See more
Orthologs
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Genomic context

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Location:
3q22.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (133038391..133397775)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (135782799..136142525)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (132757235..133116619)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene NPHP3-ACAD11 readthrough (NMD candidate) Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:132411873-132412374 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:132412375-132412874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20540 Neighboring gene NPHP3 antisense RNA 1 Neighboring gene nephrocystin 3 Neighboring gene uncharacterized LOC105374115 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_64751 Neighboring gene NANOG hESC enhancer GRCh37_chr3:132598533-132599069 Neighboring gene MPRA-validated peak4836 silencer Neighboring gene Sharpr-MPRA regulatory region 13907 Neighboring gene Sharpr-MPRA regulatory region 9074 Neighboring gene TMEM108 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:132996224-132997423 Neighboring gene uncharacterized LOC101927432 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20541 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20542 Neighboring gene BFSP2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20543 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20544 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:133192065-133192724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20545 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:133206223-133206723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20548 Neighboring gene beaded filament structural protein 2 Neighboring gene MAF1 pseudogene 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. The Candidate Schizophrenia Risk Gene Tmem108 Regulates Glucose Metabolism Homeostasis. Yu J, et al. Front Endocrinol (Lausanne), 2021. PMID 34690937, Free PMC Article
  2. A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications. Heath AC, et al. Biol Psychiatry, 2011 Sep 15. PMID 21529783, Free PMC Article
  3. A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. Ramasamy A, et al. J Allergy Clin Immunol, 2011 Nov. PMID 22036096
  4. Notch3 interactome analysis identified WWP2 as a negative regulator of Notch3 signaling in ovarian cancer. Jung JG, et al. PLoS Genet, 2014 Oct. PMID 25356737, Free PMC Article
  5. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Elks CE, et al. Nat Genet, 2010 Dec. PMID 21102462, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  2. Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
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

EBI GWAS Catalog

Description
A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
EBI GWAS Catalog
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
EBI GWAS Catalog

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

Clone Names

  • MGC3040

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in cellular response to brain-derived neurotrophic factor stimulus ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in dendrite extension IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in dendrite extension ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in dentate gyrus development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in modulation of excitatory postsynaptic potential ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of neurotrophin TRK receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in postsynaptic density organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in postsynaptic density organization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in receptor-mediated endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in retrograde axonal transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in retrograde axonal transport ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in axon IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in axon ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in axon cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in cellular_component ND
No biological Data available
more info
  
located_in dendrite IEA
Inferred from Electronic Annotation
more info
  
is_active_in early endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in early endosome ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in somatodendritic compartment ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
transmembrane protein 108
Names
cancer/testis antigen 124
retrolinkin

NCBI Reference Sequences (RefSeq)

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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_001136469.3 → NP_001129941.1  transmembrane protein 108 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001129941.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variant 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC018472, AC055753, AC079942, AC092984
    Consensus CDS
    CCDS33858.1
    UniProtKB/Swiss-Prot
    D3DNC9, Q6UXF1, Q9BQH1, Q9BW81, Q9C0H3
    UniProtKB/TrEMBL
    E9PB58
    Related
    ENSP00000376838.3, ENST00000393130.7
    Conserved Domains (1) summary
    pfam15759
    Location:63 → 575
    TMEM108; TMEM108 family

  2. NM_001282865.2 → NP_001269794.1  transmembrane protein 108 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001269794.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AC018472, AC055753, AC092984
    Consensus CDS
    CCDS75012.1
    UniProtKB/TrEMBL
    B3KT64
    Related
    ENSP00000424897.1, ENST00000508711.5
    Conserved Domains (1) summary
    pfam15759
    Location:14 → 105
    TMEM108; TMEM108 family

  3. NM_023943.4 → NP_076432.1  transmembrane protein 108 isoform 1 precursor

    See identical proteins and their annotated locations for NP_076432.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variant 1 and 2 encode the same isoform.
    Source sequence(s)
    AC018472, AC055753, AC079942, AC092984
    Consensus CDS
    CCDS33858.1
    UniProtKB/Swiss-Prot
    D3DNC9, Q6UXF1, Q9BQH1, Q9BW81, Q9C0H3
    UniProtKB/TrEMBL
    E9PB58
    Related
    ENSP00000324651.6, ENST00000321871.11
    Conserved Domains (1) summary
    pfam15759
    Location:63 → 575
    TMEM108; TMEM108 family

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
    133038391..133397775
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    135782799..136142525
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6UXF1.2 GenPept UniProtKB/Swiss-Prot:Q6UXF1

Gene LinkOut

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