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TMEM94 transmembrane protein 94 [ Homo sapiens (human) ]

Gene ID: 9772, updated on 22-Apr-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
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
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Genomic context

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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

Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
transmembrane protein 94

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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