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    Tmem94 transmembrane protein 94 [ Mus musculus (house mouse) ]

    Gene ID: 71947, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Tmem94provided by MGI
    Official Full Name
    transmembrane protein 94provided by MGI
    Primary source
    MGI:MGI:1919197
    See related
    Ensembl:ENSMUSG00000020747 AllianceGenome:MGI:1919197
    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
    ERMA; Kiaa0195; mKIAA0195; 2310067B10Rik
    Summary
    Enables P-type magnesium transporter activity. Involved in intracellular magnesium ion homeostasis and magnesium ion transport from cytosol to endoplasmic reticulum. Acts upstream of or within embryonic brain development and embryonic heart tube development. Is active in endoplasmic reticulum membrane. Is expressed in central nervous system; dorsal root ganglion; liver; and retina. Orthologous to human TMEM94 (transmembrane protein 94). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 67.7), colon adult (RPKM 64.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tmem94 in Genome Data Viewer
    Location:
    11 E2; 11 80.91 cM
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (115656245..115689859)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (115765419..115799033)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 23699 Neighboring gene 40S ribosomal protein S28 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E4016 Neighboring gene predicted gene, 46302 Neighboring gene microRNA 5621 Neighboring gene CASK-interacting protein 2 Neighboring gene STARR-positive B cell enhancer ABC_E3039 Neighboring gene tRNA splicing endonuclease subunit 54 Neighboring gene STARR-seq mESC enhancer starr_31175 Neighboring gene LLGL2 scribble cell polarity complex component Neighboring gene STARR-seq mESC enhancer starr_31178

    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. Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. Stephen J, et al. Am J Hum Genet, 2018 Dec 6. PMID 30526868, Free PMC Article
    2. ERMA (TMEM94) is a P-type ATPase transporter for Mg(2+) uptake in the endoplasmic reticulum. Vishnu N, et al. Mol Cell, 2024 Apr 4. PMID 38513662,
    3. Identification of new ciliary signaling pathways in the brain and insights into neurological disorders. Loukil A, et al. bioRxiv, 2023 Dec 21. PMID 38187761, Free PMC Article
    4. Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Feb 28. PMID 12693553
    5. Hdac4 Interactions in Huntington's Disease Viewed Through the Prism of Multiomics. Federspiel JD, et al. Mol Cell Proteomics, 2019 Aug 9. PMID 31040226, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ERMA (TMEM94) is a P-type ATPase transporter for Mg[2+] uptake in the endoplasmic reticulum.
      Title: ERMA (TMEM94) is a P-type ATPase transporter for Mg(2+) uptake in the endoplasmic reticulum.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3)  1 citation
    • Targeted (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables P-type magnesium transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables P-type magnesium transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables P-type magnesium transporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within embryonic brain development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within embryonic heart tube development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intracellular magnesium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in magnesium ion transport from cytosol to endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in magnesium ion transport from cytosol to endoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in magnesium ion transport from cytosol to endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 94
    Names
    endoplasmic reticulum magnesium ATPase
    endoplasmic reticulum magnesium-transporting P-type ATPase
    NP_082290.2
    XP_006534333.1
    XP_006534334.1
    XP_017170262.1
    XP_017170263.1
    XP_030102196.1
    XP_030102197.1
    XP_030102198.1
    XP_030102199.1
    XP_036012890.1
    XP_036012891.1
    XP_036012892.1
    XP_036012893.1
    XP_036012894.1
    XP_036012895.1
    XP_036012896.1

    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_028014.3 → NP_082290.2  transmembrane protein 94

      See identical proteins and their annotated locations for NP_082290.2

      Status: VALIDATED

      Source sequence(s)
      BC053088, BY028850, CA325552
      Consensus CDS
      CCDS25646.1
      UniProtKB/Swiss-Prot
      B1AT99, Q7TSH8, Q80U66, Q8BL05, Q8K0Q0, Q91VY1
      Related
      ENSMUSP00000091440.5, ENSMUST00000093912.11
      Conserved Domains (1) summary
      pfam00689
      Location:1224 → 1333
      Cation_ATPase_C; Cation transporting ATPase, C-terminus

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      115656245..115689859
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036156999.1 → XP_036012892.1  transmembrane protein 94 isoform X4

    2. XM_030246339.1 → XP_030102199.1  transmembrane protein 94 isoform X7

    3. XM_006534271.2 → XP_006534334.1  transmembrane protein 94 isoform X3

      See identical proteins and their annotated locations for XP_006534334.1

      UniProtKB/Swiss-Prot
      B1AT99, Q7TSH8, Q80U66, Q8BL05, Q8K0Q0, Q91VY1
      Conserved Domains (1) summary
      pfam00689
      Location:1224 → 1333
      Cation_ATPase_C; Cation transporting ATPase, C-terminus

    4. XM_036157000.1 → XP_036012893.1  transmembrane protein 94 isoform X7

    5. XM_036157001.1 → XP_036012894.1  transmembrane protein 94 isoform X7

    6. XM_036156998.1 → XP_036012891.1  transmembrane protein 94 isoform X3

      UniProtKB/Swiss-Prot
      B1AT99, Q7TSH8, Q80U66, Q8BL05, Q8K0Q0, Q91VY1

    7. XM_030246336.2 → XP_030102196.1  transmembrane protein 94 isoform X3

      UniProtKB/Swiss-Prot
      B1AT99, Q7TSH8, Q80U66, Q8BL05, Q8K0Q0, Q91VY1

    8. XM_036156997.1 → XP_036012890.1  transmembrane protein 94 isoform X3

      UniProtKB/Swiss-Prot
      B1AT99, Q7TSH8, Q80U66, Q8BL05, Q8K0Q0, Q91VY1
      Related
      ENSMUSP00000099322.2, ENSMUST00000103033.8

    9. XM_036157002.1 → XP_036012895.1  transmembrane protein 94 isoform X7

    10. XM_030246337.1 → XP_030102197.1  transmembrane protein 94 isoform X3

      UniProtKB/Swiss-Prot
      B1AT99, Q7TSH8, Q80U66, Q8BL05, Q8K0Q0, Q91VY1

    11. XM_017314774.2 → XP_017170263.1  transmembrane protein 94 isoform X5

    12. XM_030246338.1 → XP_030102198.1  transmembrane protein 94 isoform X6

    13. XM_006534270.4 → XP_006534333.1  transmembrane protein 94 isoform X1

      UniProtKB/TrEMBL
      A0A668KL57
      Related
      ENSMUSP00000159201.2, ENSMUST00000239299.2
      Conserved Domains (1) summary
      pfam00689
      Location:1235 → 1344
      Cation_ATPase_C; Cation transporting ATPase, C-terminus

    14. XM_017314773.2 → XP_017170262.1  transmembrane protein 94 isoform X2

    15. XM_036157003.1 → XP_036012896.1  transmembrane protein 94 isoform X8

      UniProtKB/TrEMBL
      Q3U2K2

    RNA

    1. XR_004937038.1 RNA Sequence

    2. XR_001780054.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7TSH8.1 GenPept UniProtKB/Swiss-Prot:Q7TSH8

    Gene LinkOut

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

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