Human Gene TMEM107 (ENST00000437139.7_11) from GENCODE V47lift37
  Description: transmembrane protein 107, transcript variant 2 (from RefSeq NM_183065.4)
Gencode Transcript: ENST00000437139.7_11
Gencode Gene: ENSG00000179029.15_14
Transcript (Including UTRs)
   Position: hg19 chr17:8,075,775-8,079,698 Size: 3,924 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr17:8,077,521-8,079,604 Size: 2,084 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:8,075,775-8,079,698)mRNA (may differ from genome)Protein (140 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TM107_HUMAN
DESCRIPTION: RecName: Full=Transmembrane protein 107;
FUNCTION: Plays a role in cilia formation and embryonic patterning. Requires for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with GLI2 and GLI3 to pattern ventral and intermediate neuronal cell types (By similarity).
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
SEQUENCE CAUTION: Sequence=AAK38512.1; Type=Frameshift; Positions=63, 82;

-  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: TMEM107
Diseases sorted by gene-association score: meckel syndrome 13* (950), orofaciodigital syndrome xvi* (900), orofaciodigital syndrome* (308), orofaciodigital syndrome i* (283), meckel syndrome 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 8.36 RPKM in Pituitary
Total median expression: 153.09 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -37.7094-0.401 Picture PostScript Text
3' UTR -490.501746-0.281 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
  Pfam Domains:
PF14995 - Transmembrane protein

SCOP Domains:
50386 - STI-like

ModBase Predicted Comparative 3D Structure on Q6UX40
FrontTopSide
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 SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005515 protein binding

Biological Process:
GO:0007275 multicellular organism development
GO:0021532 neural tube patterning
GO:0030030 cell projection organization
GO:0042733 embryonic digit morphogenesis
GO:0060271 cilium assembly
GO:1904491 protein localization to ciliary transition zone
GO:1905515 non-motile cilium assembly

Cellular Component:
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


-  Descriptions from all associated GenBank mRNAs
  JD224912 - Sequence 205936 from Patent EP1572962.
BC006292 - Homo sapiens cDNA clone IMAGE:4053710.
JD261147 - Sequence 242171 from Patent EP1572962.
AK127891 - Homo sapiens cDNA FLJ45997 fis, clone SMINT2003641.
AK027813 - Homo sapiens cDNA FLJ14907 fis, clone PLACE1005934.
JD058924 - Sequence 39948 from Patent EP1572962.
AY358525 - Homo sapiens clone DNA66519 GRVS638 (UNQ638) mRNA, complete cds.
BC070231 - Homo sapiens transmembrane protein 107, mRNA (cDNA clone MGC:88213 IMAGE:6617879), complete cds.
AF311338 - Homo sapiens DC20 mRNA, complete cds.
JD058226 - Sequence 39250 from Patent EP1572962.
JD240474 - Sequence 221498 from Patent EP1572962.
JD083049 - Sequence 64073 from Patent EP1572962.
JD253582 - Sequence 234606 from Patent EP1572962.
BC119730 - Homo sapiens cDNA clone IMAGE:40118152.
BC119731 - Homo sapiens cDNA clone IMAGE:40118153.
BC127649 - Homo sapiens transmembrane protein 107, mRNA (cDNA clone MGC:157687 IMAGE:40118154), complete cds.
BC127650 - Homo sapiens cDNA clone IMAGE:40118155.
KJ894980 - Synthetic construct Homo sapiens clone ccsbBroadEn_04374 TMEM107 gene, encodes complete protein.
HQ447560 - Synthetic construct Homo sapiens clone IMAGE:100070901; CCSB014942_01 transmembrane protein 107 (TMEM107) gene, encodes complete protein.
KJ903412 - Synthetic construct Homo sapiens clone ccsbBroadEn_12806 TMEM107 gene, encodes complete protein.
CU687070 - Synthetic construct Homo sapiens gateway clone IMAGE:100023059 5' read TMEM107 mRNA.
JD402214 - Sequence 383238 from Patent EP1572962.
AK315666 - Homo sapiens cDNA, FLJ96758.
JD139012 - Sequence 120036 from Patent EP1572962.
JD403509 - Sequence 384533 from Patent EP1572962.
JD530015 - Sequence 511039 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A0PJV7, DC20, ENST00000437139.1, ENST00000437139.2, ENST00000437139.3, ENST00000437139.4, ENST00000437139.5, ENST00000437139.6, NM_183065, Q6NSE3, Q6UX40, Q6ZRX9, Q96T82, TM107_HUMAN, TMEM107 , uc320fmh.1, uc320fmh.2, UNQ638/PRO1268
UCSC ID: ENST00000437139.7_11
RefSeq Accession: NM_183065.4
Protein: Q6UX40 (aka TM107_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TMEM107:
joubert (Joubert Syndrome)

-  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.