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Tmem259 transmembrane protein 259 [ Mus musculus (house mouse) ]

Gene ID: 216157, updated on 21-Apr-2024

Summary

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Official Symbol
Tmem259provided by MGI
Official Full Name
transmembrane protein 259provided by MGI
Primary source
MGI:MGI:2177957
See related
Ensembl:ENSMUSG00000013858 AllianceGenome:MGI:2177957
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
ORF61; R32184_3; mFLJ00277; AC087114.7gm2
Summary
Involved in negative regulation of neuron death; positive regulation of ERAD pathway; and response to endoplasmic reticulum stress. Located in endoplasmic reticulum. Orthologous to human TMEM259 (transmembrane protein 259). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in adrenal adult (RPKM 266.2), duodenum adult (RPKM 252.2) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
10 C1; 10 39.72 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (79812954..79820159, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (79977120..79984325, complement)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene AT-rich interaction domain 3A Neighboring gene STARR-positive B cell enhancer ABC_E10626 Neighboring gene STARR-seq mESC enhancer starr_27254 Neighboring gene STARR-positive B cell enhancer ABC_E1804 Neighboring gene WD repeat domain 18 Neighboring gene glutamate receptor, ionotropic, NMDA3B Neighboring gene STARR-positive B cell enhancer ABC_E720 Neighboring gene STARR-positive B cell enhancer ABC_E6879 Neighboring gene STARR-positive B cell enhancer ABC_E2947 Neighboring gene predicted gene, 26243 Neighboring gene calponin 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Membralin deficiency dysregulates astrocytic glutamate homeostasis leading to ALS-like impairment. Jiang LL, et al. J Clin Invest, 2019 May 21. PMID 31112137, Free PMC Article
  2. ER-associated degradation regulates Alzheimer's amyloid pathology and memory function by modulating γ-secretase activity. Zhu B, et al. Nat Commun, 2017 Nov 13. PMID 29133892, Free PMC Article
  3. The critical role of membralin in postnatal motor neuron survival and disease. Yang B, et al. Elife, 2015 May 15. PMID 25977983, Free PMC Article
  4. Characterization and expression of the gene encoding membralin, an evolutionary conserved protein expressed in the central nervous system. Andersson O, et al. Brain Res Gene Expr Patterns, 2002 Oct. PMID 12638133
  5. The APMAP interactome reveals new modulators of APP processing and beta-amyloid production that are altered in Alzheimer's disease. Gerber H, et al. Acta Neuropathol Commun, 2019 Jan 31. PMID 30704515, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. reduced membralin and EAAT2 levels correlated with disease progression in spinal cord from SOD1-mutant mouse models, and reductions in membralin/EAAT2 were observed in human ALS spinal cord. Importantly, overexpression of membralin in SOD1G93A astrocytes decreased TNFR1 levels and increased EAAT2 expression, and improved motor neuron survival.
    Title: Membralin deficiency dysregulates astrocytic glutamate homeostasis leading to ALS-like impairment.
  2. The results identify membralin as an Endoplasmic-reticulum-associated degradation component and demonstrate a critical role for Endoplasmic-reticulum-associated degradation in Alzheimer's disease pathogenesis.
    Title: ER-associated degradation regulates Alzheimer's amyloid pathology and memory function by modulating γ-secretase activity.
  3. Membralin plays a critical role in motor neuron survival, suggesting a novel mechanism for early-onset motor neuron disease.
    Title: The critical role of membralin in postnatal motor neuron survival and disease.
  4. genomic organization and expression (membralin)
    Title: Characterization and expression of the gene encoding membralin, an evolutionary conserved protein expressed in the central nervous system.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (1) 
  • Endonuclease-mediated (1) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ00277, MGC90890, AC087114.7gm12

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of ERAD pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of ERAD pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to endoplasmic reticulum stress IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to endoplasmic reticulum stress IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
membralin

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_001003949.4 → NP_001003949.2  membralin isoform 2

    See identical proteins and their annotated locations for NP_001003949.2

    Status: VALIDATED

    Source sequence(s)
    AC151846, BE947335, BQ571954, BQ572278, CO044817, CX205815
    Consensus CDS
    CCDS24002.1
    UniProtKB/Swiss-Prot
    Q68EE1, Q6KAN7, Q7TS84, Q8CIV1, Q8CIV2, Q99K29
    UniProtKB/TrEMBL
    F6RN19
    Related
    ENSMUSP00000056792.8, ENSMUST00000052885.14
    Conserved Domains (1) summary
    pfam09746
    Location:34 → 393
    Membralin; Tumour-associated protein

  2. NM_001359632.1 → NP_001346561.1  membralin isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC151846, BE947335, BQ571954, BQ572278, BQ748980, CO044817, CX205815
    UniProtKB/TrEMBL
    F6RN19
    Related
    ENSMUSP00000119572.2, ENSMUST00000124536.2
    Conserved Domains (2) summary
    pfam09746
    Location:35 → 417
    Membralin; tumor-associated protein
    cl28033
    Location:484 → 596
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    79812954..79820159 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006513491.1 → XP_006513554.1  membralin isoform X1

    See identical proteins and their annotated locations for XP_006513554.1

    UniProtKB/TrEMBL
    F6RN19
    Conserved Domains (2) summary
    PHA03307
    Location:443 → 555
    PHA03307; transcriptional regulator ICP4; Provisional
    pfam09746
    Location:34 → 376
    Membralin; tumor-associated protein
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8CIV2.2 GenPept UniProtKB/Swiss-Prot:Q8CIV2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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Chemical Information
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