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

Gene ID: 71947, updated on 2-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 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 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 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 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

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