Human Gene TMEM199 (ENST00000292114.8_4) from GENCODE V48lift37
  Description: transmembrane protein 199 (from RefSeq NM_152464.3)
Gencode Transcript: ENST00000292114.8_4
Gencode Gene: ENSG00000244045.13_9
Transcript (Including UTRs)
   Position: hg19 chr17:26,684,670-26,690,705 Size: 6,036 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr17:26,684,694-26,688,274 Size: 3,581 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2025-04-10 15:10:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:26,684,670-26,690,705)mRNA (may differ from genome)Protein (208 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIneXtProtOMIMPubMed
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TM199_HUMAN
DESCRIPTION: RecName: Full=Transmembrane protein 199;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TMEM199
Diseases sorted by gene-association score: congenital disorder of glycosylation, type iip* (1569), congenital disorder of glycosylation, type ii* (179)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.07 RPKM in Pituitary
Total median expression: 277.12 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -8.1024-0.338 Picture PostScript Text
3' UTR -736.902431-0.303 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR021013 - ATPase_Vma12

Pfam Domains:
PF11712 - Endoplasmic reticulum-based factor for assembly of V-ATPase

ModBase Predicted Comparative 3D Structure on Q8N511
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006879 cellular iron ion homeostasis
GO:0007042 lysosomal lumen acidification
GO:0036295 cellular response to increased oxygen levels
GO:0070072 vacuolar proton-transporting V-type ATPase complex assembly
GO:1905146 lysosomal protein catabolic process

Cellular Component:
GO:0005764 lysosome
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016471 vacuolar proton-transporting V-type ATPase complex
GO:0030663 COPI-coated vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane


-  Descriptions from all associated GenBank mRNAs
  AK223584 - Homo sapiens mRNA for hypothetical protein MGC45714 variant, clone: FCC130D02.
AK293909 - Homo sapiens cDNA FLJ57960 complete cds.
AK291475 - Homo sapiens cDNA FLJ76619 complete cds.
BC033113 - Homo sapiens transmembrane protein 199, mRNA (cDNA clone MGC:45714 IMAGE:5429060), complete cds.
KJ895600 - Synthetic construct Homo sapiens clone ccsbBroadEn_04994 TMEM199 gene, encodes complete protein.
AY074907 - Homo sapiens chromosome 17 open reading frame 32 (C17orf32) mRNA, complete cds.
AK311363 - Homo sapiens cDNA, FLJ18405.
JD466314 - Sequence 447338 from Patent EP1572962.
JD160411 - Sequence 141435 from Patent EP1572962.
JD507278 - Sequence 488302 from Patent EP1572962.
JD330475 - Sequence 311499 from Patent EP1572962.
JD102580 - Sequence 83604 from Patent EP1572962.
JD162116 - Sequence 143140 from Patent EP1572962.
JD288733 - Sequence 269757 from Patent EP1572962.
JD042578 - Sequence 23602 from Patent EP1572962.
JD374826 - Sequence 355850 from Patent EP1572962.
JD221263 - Sequence 202287 from Patent EP1572962.
JD514836 - Sequence 495860 from Patent EP1572962.
JD327985 - Sequence 309009 from Patent EP1572962.
JD039842 - Sequence 20866 from Patent EP1572962.
JD102358 - Sequence 83382 from Patent EP1572962.
JD403847 - Sequence 384871 from Patent EP1572962.
JD224867 - Sequence 205891 from Patent EP1572962.
JD073523 - Sequence 54547 from Patent EP1572962.
JD554017 - Sequence 535041 from Patent EP1572962.
JD244287 - Sequence 225311 from Patent EP1572962.
JD119122 - Sequence 100146 from Patent EP1572962.
JD211746 - Sequence 192770 from Patent EP1572962.
JD278368 - Sequence 259392 from Patent EP1572962.
JD425823 - Sequence 406847 from Patent EP1572962.
JD144704 - Sequence 125728 from Patent EP1572962.
JD378638 - Sequence 359662 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: C17orf32 , ENST00000292114.1, ENST00000292114.2, ENST00000292114.3, ENST00000292114.4, ENST00000292114.5, ENST00000292114.6, ENST00000292114.7, NM_152464, Q8N511, TM199_HUMAN, TMEM199 , uc317kzy.1, uc317kzy.2
UCSC ID: ENST00000292114.8_4
RefSeq Accession: NM_152464.3
Protein: Q8N511 (aka TM199_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.