Human Gene TMEM17 (ENST00000335390.6_7) from GENCODE V47lift37
  Description: transmembrane protein 17 (from RefSeq NM_198276.3)
Gencode Transcript: ENST00000335390.6_7
Gencode Gene: ENSG00000186889.10_10
Transcript (Including UTRs)
   Position: hg19 chr2:62,727,353-62,733,330 Size: 5,978 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr2:62,728,344-62,733,264 Size: 4,921 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:62,727,353-62,733,330)mRNA (may differ from genome)Protein (198 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TMM17_HUMAN
DESCRIPTION: RecName: Full=Transmembrane protein 17;
FUNCTION: Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity).
SUBUNIT: Part of the tectonic-like complex (also named B9 complex) (By similarity).
SUBCELLULAR LOCATION: Cell projection, cilium membrane; Multi-pass membrane protein (By similarity). Note=Localizes to the transition zone of primary cilia (By similarity).
SIMILARITY: Belongs to the TMEM17 family.

-  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: TMEM17
Diseases sorted by gene-association score: orofaciodigital syndrome vi* (109), orofaciodigital syndrome (6), meckel syndrome 1 (1), joubert syndrome 1 (1)
* = 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: 6.09 RPKM in Brain - Hypothalamus
Total median expression: 87.14 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 -29.7066-0.450 Picture PostScript Text
3' UTR -268.90991-0.271 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
IPR019184 - Uncharacterised_TM-17

Pfam Domains:
PF09799 - Predicted membrane protein

ModBase Predicted Comparative 3D Structure on Q86X19
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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    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0007224 smoothened signaling pathway
GO:0030030 cell projection organization
GO:0060271 cilium assembly
GO:1905515 non-motile cilium assembly

Cellular Component:
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0035869 ciliary transition zone
GO:0036038 MKS complex
GO:0042995 cell projection
GO:0060170 ciliary membrane


-  Descriptions from all associated GenBank mRNAs
  KJ900413 - Synthetic construct Homo sapiens clone ccsbBroadEn_09807 TMEM17 gene, encodes complete protein.
HQ448043 - Synthetic construct Homo sapiens clone IMAGE:100071419; CCSB010656_03 transmembrane protein 17 (TMEM17) gene, encodes complete protein.
JD021194 - Sequence 2218 from Patent EP1572962.
JD028889 - Sequence 9913 from Patent EP1572962.
BC047439 - Homo sapiens transmembrane protein 17, mRNA (cDNA clone MGC:51350 IMAGE:5289095), complete cds.
AK124081 - Homo sapiens cDNA FLJ42087 fis, clone TESOP2000739.
JD211834 - Sequence 192858 from Patent EP1572962.
JD488570 - Sequence 469594 from Patent EP1572962.
JD159631 - Sequence 140655 from Patent EP1572962.
AK091902 - Homo sapiens cDNA FLJ34583 fis, clone KIDNE2008666.
AX747245 - Sequence 770 from Patent EP1308459.
JD186539 - Sequence 167563 from Patent EP1572962.
JD510031 - Sequence 491055 from Patent EP1572962.
JD509907 - Sequence 490931 from Patent EP1572962.
JD557837 - Sequence 538861 from Patent EP1572962.
CU690418 - Synthetic construct Homo sapiens gateway clone IMAGE:100020808 5' read TMEM17 mRNA.
JD241121 - Sequence 222145 from Patent EP1572962.
JD445579 - Sequence 426603 from Patent EP1572962.
JD126242 - Sequence 107266 from Patent EP1572962.
JD141618 - Sequence 122642 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000335390.1, ENST00000335390.2, ENST00000335390.3, ENST00000335390.4, ENST00000335390.5, NM_198276, Q53QP7, Q53R98, Q86X19, TMM17_HUMAN, uc317ugb.1, uc317ugb.2
UCSC ID: ENST00000335390.6_7
RefSeq Accession: NM_198276.3
Protein: Q86X19 (aka TMM17_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.