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TMEM108 transmembrane protein 108 [ Homo sapiens (human) ]

Gene ID: 66000, updated on 7-Jun-2020

Summary

Official Symbol
TMEM108provided by HGNC
Official Full Name
transmembrane protein 108provided by HGNC
Primary source
HGNC:HGNC:28451
See related
Ensembl:ENSG00000144868 MIM:617361
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
Expression
Broad expression in brain (RPKM 3.1), testis (RPKM 2.8) and 19 other tissues See more
Orthologs

Genomic context

See TMEM108 in Genome Data Viewer
Location:
3q22.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (133038288..133397775)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (132757171..133116619)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene NPHP3-ACAD11 readthrough (NMD candidate) Neighboring gene NPHP3 antisense RNA 1 Neighboring gene nephrocystin 3 Neighboring gene uncharacterized LOC105374115 Neighboring gene Sharpr-MPRA regulatory region 13907 Neighboring gene Sharpr-MPRA regulatory region 9074 Neighboring gene TMEM108 antisense RNA 1 Neighboring gene uncharacterized LOC101927432 Neighboring gene BFSP2 antisense RNA 1 Neighboring gene beaded filament structural protein 2 Neighboring gene MAF1 homolog (S. cerevisiae) pseudogene

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3040

Gene Ontology Provided by GOA

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

General protein information

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

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_001136469.2NP_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)
    AI791245, AL136578, AY358381, BC000568, BI562052, BM667108, HY044341
    Consensus CDS
    CCDS33858.1
    UniProtKB/Swiss-Prot
    Q6UXF1
    Related
    ENSP00000376838.3, ENST00000393130.7
    Conserved Domains (1) summary
    pfam15759
    Location:63575
    TMEM108; TMEM108 family
  2. NM_001282865.1NP_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)
    AC092984, AI791245, AK095050, AL136578, BM667108
    Consensus CDS
    CCDS75012.1
    UniProtKB/Swiss-Prot
    Q6UXF1
    UniProtKB/TrEMBL
    B3KT64
    Related
    ENSP00000424897.1, ENST00000508711.5
    Conserved Domains (1) summary
    pfam15759
    Location:14105
    TMEM108; TMEM108 family
  3. NM_023943.4NP_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
    Q6UXF1
    Related
    ENSP00000324651.6, ENST00000321871.10
    Conserved Domains (1) summary
    pfam15759
    Location:63575
    TMEM108; TMEM108 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    133038288..133397775
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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