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    TMEM94 transmembrane protein 94 [ Homo sapiens (human) ]

    Gene ID: 9772, updated on 4-May-2024

    Summary

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    Official Symbol
    TMEM94provided by HGNC
    Official Full Name
    transmembrane protein 94provided by HGNC
    Primary source
    HGNC:HGNC:28983
    See related
    Ensembl:ENSG00000177728 MIM:618163; AllianceGenome:HGNC:28983
    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
    ERMA; IDDCDF; KIAA0195
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 13.2), testis (RPKM 12.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM94 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75456635..75500452)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76350056..76393782)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73452716..73496533)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6144 Neighboring gene RNA, U6 small nuclear 938, pseudogene Neighboring gene microRNA 3678 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12763 Neighboring gene Sharpr-MPRA regulatory region 2319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8967 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73464760-73464928 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8968 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73476676-73476860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12766 Neighboring gene microRNA 6785 Neighboring gene CASK interacting protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73510728-73511294 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8969 Neighboring gene Sharpr-MPRA regulatory region 12010 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8971 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73521300-73521484 Neighboring gene tRNA splicing endonuclease subunit 54 Neighboring gene LLGL scribble cell polarity complex component 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73537609-73538426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73540787-73541589 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73548510-73549090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73553000-73553936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73553937-73554872 Neighboring gene Sharpr-MPRA regulatory region 3602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12769

    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. Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94. Al-Hamed MH, et al. Genes (Basel), 2020 Aug 20. PMID 32825426, Free PMC Article
    2. 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
    3. Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1. Nagase T, et al. DNA Res, 1996 Feb 29. PMID 8724849
    4. Cold-inducible RBM3 inhibits PERK phosphorylation through cooperation with NF90 to protect cells from endoplasmic reticulum stress. Zhu X, et al. FASEB J, 2016 Feb. PMID 26472337
    5. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. So J, et al. Sci Signal, 2015 Apr 7. PMID 25852190

    See all (24) 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.
    2. Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94.
      Title: Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94.
    3. 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.
    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

    Associated conditions

    Description Tests
    Intellectual developmental disorder with cardiac defects and dysmorphic facies
    MedGen: C5193024 OMIM: 618316 GeneReviews: Not available
    		Compare labs

    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

    • FLJ37545, DKFZp781M1056

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables P-type magnesium transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular magnesium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in magnesium ion transport from cytosol to endoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane protein 94
    Names
    ER Mg2+ ATPase

    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.

    Genomic

    1. NG_054884.1 RefSeqGene

      Range
      20477..64294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001321148.2 → NP_001308077.1  transmembrane protein 94 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK316060, CN307648, D83779, DB545285, H06743
      Consensus CDS
      CCDS82204.1
      UniProtKB/TrEMBL
      B4DGC6
      Related
      ENSP00000364397.5, ENST00000375248.9
      Conserved Domains (1) summary
      COG0474
      Location:988 → 1339
      MgtA; Magnesium-transporting ATPase (P-type) [Inorganic ion transport and metabolism]

    2. NM_001321149.2 → NP_001308078.1  transmembrane protein 94 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC100787, CN307648, D83779, DA317199, DB545285, H06743
      Consensus CDS
      CCDS92394.1
      UniProtKB/TrEMBL
      J3KRN3, J3QSG7
      Related
      ENSP00000464679.2, ENST00000580918.2
      Conserved Domains (1) summary
      COG0474
      Location:982 → 1333
      MgtA; Magnesium-transporting ATPase (P-type) [Inorganic ion transport and metabolism]

    3. NM_001351202.2 → NP_001338131.1  transmembrane protein 94 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC100787, H06743, KF456321
      Consensus CDS
      CCDS92392.1
      UniProtKB/TrEMBL
      J3KRN3, J3QLC5
      Related
      ENSP00000463487.2, ENST00000578853.2
      Conserved Domains (1) summary
      cl02929
      Location:1204 → 1313
      Cation_ATPase_C; Cation transporting ATPase, C-terminus

    4. NM_001351203.2 → NP_001338132.1  transmembrane protein 94 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC100787, H06743, KF456321
      UniProtKB/TrEMBL
      B4DGC6
      Conserved Domains (1) summary
      cl02929
      Location:1229 → 1338
      Cation_ATPase_C; Cation transporting ATPase, C-terminus

    5. NM_014738.6 → NP_055553.3  transmembrane protein 94 isoform 1

      See identical proteins and their annotated locations for NP_055553.3

      Status: VALIDATED

      Source sequence(s)
      CN307648, D83779, DA317199, DB545285, H06743
      Consensus CDS
      CCDS32732.1
      UniProtKB/Swiss-Prot
      C9JL75, O75536, Q12767, Q86XF1
      UniProtKB/TrEMBL
      J3KRN3
      Related
      ENSP00000313885.7, ENST00000314256.12
      Conserved Domains (1) summary
      COG0474
      Location:978 → 1329
      MgtA; Magnesium-transporting ATPase (P-type) [Inorganic ion transport and metabolism]

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      75456635..75500452
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437170.1 → XP_047293126.1  transmembrane protein 94 isoform X26

      UniProtKB/TrEMBL
      J3QSG7

    2. XM_047437172.1 → XP_047293128.1  transmembrane protein 94 isoform X28

      UniProtKB/Swiss-Prot
      C9JL75, O75536, Q12767, Q86XF1

    3. XM_047437179.1 → XP_047293135.1  transmembrane protein 94 isoform X37

      UniProtKB/TrEMBL
      J3QLC5

    4. XM_011525514.3 → XP_011523816.1  transmembrane protein 94 isoform X5

      See identical proteins and their annotated locations for XP_011523816.1

      UniProtKB/TrEMBL
      J3KRN3

    5. XM_047437164.1 → XP_047293120.1  transmembrane protein 94 isoform X19

    6. XM_047437159.1 → XP_047293115.1  transmembrane protein 94 isoform X9

    7. XM_047437181.1 → XP_047293137.1  transmembrane protein 94 isoform X39

    8. XM_047437171.1 → XP_047293127.1  transmembrane protein 94 isoform X27

    9. XM_047437174.1 → XP_047293130.1  transmembrane protein 94 isoform X30

    10. XM_047437184.1 → XP_047293140.1  transmembrane protein 94 isoform X42

    11. XM_047437163.1 → XP_047293119.1  transmembrane protein 94 isoform X18

    12. XM_047437177.1 → XP_047293133.1  transmembrane protein 94 isoform X35

    13. XM_047437186.1 → XP_047293142.1  transmembrane protein 94 isoform X44

    14. XM_047437178.1 → XP_047293134.1  transmembrane protein 94 isoform X36

    15. XM_047437158.1 → XP_047293114.1  transmembrane protein 94 isoform X7

    16. XM_047437167.1 → XP_047293123.1  transmembrane protein 94 isoform X23

      Related
      ENST00000581085.5

    17. XM_047437168.1 → XP_047293124.1  transmembrane protein 94 isoform X24

    18. XM_017025440.3 → XP_016880929.1  transmembrane protein 94 isoform X11

      UniProtKB/TrEMBL
      J3KRN3

    19. XM_047437182.1 → XP_047293138.1  transmembrane protein 94 isoform X40

      UniProtKB/TrEMBL
      J3QRY7
      Related
      ENSP00000464437.2, ENST00000577247.6

    20. XM_047437173.1 → XP_047293129.1  transmembrane protein 94 isoform X29

    21. XM_047437183.1 → XP_047293139.1  transmembrane protein 94 isoform X41

    22. XM_047437176.1 → XP_047293132.1  transmembrane protein 94 isoform X33

    23. XM_047437185.1 → XP_047293141.1  transmembrane protein 94 isoform X43

    24. XM_047437165.1 → XP_047293121.1  transmembrane protein 94 isoform X21

    25. XM_047437187.1 → XP_047293143.1  transmembrane protein 94 isoform X45

    26. XM_047437180.1 → XP_047293136.1  transmembrane protein 94 isoform X38

    27. XM_017025433.2 → XP_016880922.1  transmembrane protein 94 isoform X1

      UniProtKB/TrEMBL
      B4DGC6

    28. XM_017025442.2 → XP_016880931.1  transmembrane protein 94 isoform X13

      UniProtKB/TrEMBL
      B4DGC6

    29. XM_017025434.2 → XP_016880923.1  transmembrane protein 94 isoform X2

      UniProtKB/TrEMBL
      B4DGC6

    30. XM_017025444.2 → XP_016880933.1  transmembrane protein 94 isoform X15

      UniProtKB/TrEMBL
      B4DGC6

    31. XM_017025436.2 → XP_016880925.1  transmembrane protein 94 isoform X4

      UniProtKB/TrEMBL
      B4DGC6

    32. XM_005257864.3 → XP_005257921.1  transmembrane protein 94 isoform X20

      UniProtKB/TrEMBL
      B4DGC6
      Conserved Domains (1) summary
      COG0474
      Location:992 → 1343
      MgtA; Magnesium-transporting ATPase (P-type) [Inorganic ion transport and metabolism]

    33. XM_047437166.1 → XP_047293122.1  transmembrane protein 94 isoform X22

    34. XM_017025438.2 → XP_016880927.1  transmembrane protein 94 isoform X8

      UniProtKB/TrEMBL
      B4DGC6

    35. XM_047437169.1 → XP_047293125.1  transmembrane protein 94 isoform X25

    36. XM_047437160.1 → XP_047293116.1  transmembrane protein 94 isoform X12

    37. XM_017025446.2 → XP_016880935.1  transmembrane protein 94 isoform X31

      UniProtKB/TrEMBL
      B4DGC6

    38. XM_047437175.1 → XP_047293131.1  transmembrane protein 94 isoform X32

    39. XM_017025435.2 → XP_016880924.1  transmembrane protein 94 isoform X3

      UniProtKB/TrEMBL
      B4DGC6

    40. XM_047437162.1 → XP_047293118.1  transmembrane protein 94 isoform X17

      Related
      ENST00000585105.5

    41. XM_017025437.2 → XP_016880926.1  transmembrane protein 94 isoform X6

      UniProtKB/TrEMBL
      B4DGC6

    42. XM_017025439.2 → XP_016880928.1  transmembrane protein 94 isoform X10

      UniProtKB/TrEMBL
      B4DGC6

    43. XM_017025443.2 → XP_016880932.1  transmembrane protein 94 isoform X14

      UniProtKB/TrEMBL
      B4DGC6

    44. XM_017025448.2 → XP_016880937.1  transmembrane protein 94 isoform X34

      UniProtKB/TrEMBL
      B4DGC6

    45. XM_047437161.1 → XP_047293117.1  transmembrane protein 94 isoform X16

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      76350056..76393782
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318006.1 → XP_054173981.1  transmembrane protein 94 isoform X26

      UniProtKB/TrEMBL
      J3QSG7

    2. XM_054318008.1 → XP_054173983.1  transmembrane protein 94 isoform X28

      UniProtKB/Swiss-Prot
      C9JL75, O75536, Q12767, Q86XF1

    3. XM_054318017.1 → XP_054173992.1  transmembrane protein 94 isoform X37

      UniProtKB/TrEMBL
      J3QLC5

    4. XM_054317985.1 → XP_054173960.1  transmembrane protein 94 isoform X5

    5. XM_054317999.1 → XP_054173974.1  transmembrane protein 94 isoform X19

    6. XM_054317989.1 → XP_054173964.1  transmembrane protein 94 isoform X9

    7. XM_054318019.1 → XP_054173994.1  transmembrane protein 94 isoform X39

    8. XM_054318007.1 → XP_054173982.1  transmembrane protein 94 isoform X27

    9. XM_054318010.1 → XP_054173985.1  transmembrane protein 94 isoform X30

    10. XM_054318022.1 → XP_054173997.1  transmembrane protein 94 isoform X42

    11. XM_054317998.1 → XP_054173973.1  transmembrane protein 94 isoform X18

    12. XM_054318015.1 → XP_054173990.1  transmembrane protein 94 isoform X35

    13. XM_054318024.1 → XP_054173999.1  transmembrane protein 94 isoform X44

    14. XM_054318016.1 → XP_054173991.1  transmembrane protein 94 isoform X36

    15. XM_054317987.1 → XP_054173962.1  transmembrane protein 94 isoform X7

    16. XM_054318003.1 → XP_054173978.1  transmembrane protein 94 isoform X23

    17. XM_054318004.1 → XP_054173979.1  transmembrane protein 94 isoform X24

    18. XM_054317991.1 → XP_054173966.1  transmembrane protein 94 isoform X11

    19. XM_054318020.1 → XP_054173995.1  transmembrane protein 94 isoform X40

      UniProtKB/TrEMBL
      J3QRY7

    20. XM_054318009.1 → XP_054173984.1  transmembrane protein 94 isoform X29

    21. XM_054318021.1 → XP_054173996.1  transmembrane protein 94 isoform X41

    22. XM_054318013.1 → XP_054173988.1  transmembrane protein 94 isoform X33

    23. XM_054318023.1 → XP_054173998.1  transmembrane protein 94 isoform X43

    24. XM_054318001.1 → XP_054173976.1  transmembrane protein 94 isoform X21

    25. XM_054318025.1 → XP_054174000.1  transmembrane protein 94 isoform X45

    26. XM_054318018.1 → XP_054173993.1  transmembrane protein 94 isoform X38

    27. XM_054317981.1 → XP_054173956.1  transmembrane protein 94 isoform X1

    28. XM_054317993.1 → XP_054173968.1  transmembrane protein 94 isoform X13

    29. XM_054317982.1 → XP_054173957.1  transmembrane protein 94 isoform X2

    30. XM_054317995.1 → XP_054173970.1  transmembrane protein 94 isoform X15

    31. XM_054317984.1 → XP_054173959.1  transmembrane protein 94 isoform X4

    32. XM_054318000.1 → XP_054173975.1  transmembrane protein 94 isoform X20

    33. XM_054318002.1 → XP_054173977.1  transmembrane protein 94 isoform X22

    34. XM_054317988.1 → XP_054173963.1  transmembrane protein 94 isoform X8

    35. XM_054318005.1 → XP_054173980.1  transmembrane protein 94 isoform X25

    36. XM_054317992.1 → XP_054173967.1  transmembrane protein 94 isoform X12

    37. XM_054318011.1 → XP_054173986.1  transmembrane protein 94 isoform X31

    38. XM_054318012.1 → XP_054173987.1  transmembrane protein 94 isoform X32

    39. XM_054317983.1 → XP_054173958.1  transmembrane protein 94 isoform X3

    40. XM_054317997.1 → XP_054173972.1  transmembrane protein 94 isoform X17

    41. XM_054317986.1 → XP_054173961.1  transmembrane protein 94 isoform X6

    42. XM_054317990.1 → XP_054173965.1  transmembrane protein 94 isoform X10

    43. XM_054317994.1 → XP_054173969.1  transmembrane protein 94 isoform X14

    44. XM_054318014.1 → XP_054173989.1  transmembrane protein 94 isoform X34

    45. XM_054317996.1 → XP_054173971.1  transmembrane protein 94 isoform X16

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q12767.1 GenPept UniProtKB/Swiss-Prot:Q12767

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