Human Gene TMTC2 (ENST00000321196.8_4) from GENCODE V47lift37
  Description: transmembrane O-mannosyltransferase targeting cadherins 2, transcript variant 1 (from RefSeq NM_152588.3)
Gencode Transcript: ENST00000321196.8_4
Gencode Gene: ENSG00000179104.9_7
Transcript (Including UTRs)
   Position: hg19 chr12:83,080,685-83,528,645 Size: 447,961 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr12:83,081,366-83,526,168 Size: 444,803 Coding Exon Count: 12 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:83,080,685-83,528,645)mRNA (may differ from genome)Protein (836 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TMTC2_HUMAN
DESCRIPTION: RecName: Full=Transmembrane and TPR repeat-containing protein 2;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
SIMILARITY: Belongs to the TMTC family.
SIMILARITY: Contains 10 TPR repeats.
SEQUENCE CAUTION: Sequence=BAC11102.1; Type=Erroneous initiation;

-  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: TMTC2
Diseases sorted by gene-association score: glaucoma 1, open angle, e (1)

-  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: 8.50 RPKM in Colon - Sigmoid
Total median expression: 151.84 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 -349.90681-0.514 Picture PostScript Text
3' UTR -614.202477-0.248 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
IPR013618 - DUF1736
IPR013026 - TPR-contain_dom
IPR011990 - TPR-like_helical
IPR019734 - TPR_repeat

Pfam Domains:
PF00515 - Tetratricopeptide repeat
PF07719 - Tetratricopeptide repeat
PF07721 - Tetratricopeptide repeat
PF08409 - Domain of unknown function (DUF1736)
PF13174 - Tetratricopeptide repeat
PF13176 - Tetratricopeptide repeat
PF13181 - Tetratricopeptide repeat
PF13374 - Tetratricopeptide repeat
PF13424 - Tetratricopeptide repeat
PF13432 - Tetratricopeptide repeat

SCOP Domains:
81901 - HCP-like
48439 - Protein prenylyltransferase
48452 - TPR-like
116846 - MIT domain
144059 - ImpE-like

ModBase Predicted Comparative 3D Structure on Q8N394
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 Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

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

Biological Process:
GO:0055074 calcium ion homeostasis

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AX795396 - Sequence 5 from Patent WO03052412.
AX795392 - Sequence 1 from Patent WO03052412.
BC098572 - Homo sapiens transmembrane and tetratricopeptide repeat containing 2, mRNA (cDNA clone IMAGE:30924570).
AL834509 - Homo sapiens mRNA; cDNA DKFZp762A217 (from clone DKFZp762A217).
AK299771 - Homo sapiens cDNA FLJ54938 complete cds, weakly similar to Mus musculus transmembrane and tetratricopeptide repeat containing 1 (Tmtc1), mRNA.
BC093852 - Homo sapiens transmembrane and tetratricopeptide repeat containing 2, mRNA (cDNA clone MGC:120887 IMAGE:7939697), complete cds.
BC143378 - Homo sapiens cDNA clone IMAGE:9051884.
BC093854 - Homo sapiens transmembrane and tetratricopeptide repeat containing 2, mRNA (cDNA clone MGC:120889 IMAGE:7939699), complete cds.
AK315285 - Homo sapiens cDNA, FLJ96300.
AB463319 - Synthetic construct DNA, clone: pF1KB8630, Homo sapiens TMTC2 gene for transmembrane and tetratricopeptide repeat containing 2, without stop codon, in Flexi system.
AM393141 - Synthetic construct Homo sapiens clone IMAGE:100002518 for hypothetical protein (TMTC2 gene).
AX795394 - Sequence 3 from Patent WO03052412.
BC071614 - Homo sapiens cDNA clone IMAGE:5276228, containing frame-shift errors.
AK074634 - Homo sapiens cDNA FLJ90153 fis, clone HEMBB1002120, weakly similar to UDP-N-ACETYLGLUCOSAMINE--PEPTIDE N-ACETYLGLUCOSAMINYLTRANSFERASE 110 KD SUBUNIT (EC 2.4.1.-).
JD470564 - Sequence 451588 from Patent EP1572962.
JD128046 - Sequence 109070 from Patent EP1572962.
JD080714 - Sequence 61738 from Patent EP1572962.
JD437186 - Sequence 418210 from Patent EP1572962.
JD466332 - Sequence 447356 from Patent EP1572962.
JD326659 - Sequence 307683 from Patent EP1572962.
JD511609 - Sequence 492633 from Patent EP1572962.
JD493106 - Sequence 474130 from Patent EP1572962.
JD109501 - Sequence 90525 from Patent EP1572962.
JD342846 - Sequence 323870 from Patent EP1572962.
JD156632 - Sequence 137656 from Patent EP1572962.
JD164900 - Sequence 145924 from Patent EP1572962.
JD058971 - Sequence 39995 from Patent EP1572962.
JD145339 - Sequence 126363 from Patent EP1572962.
BC047464 - Homo sapiens cDNA clone IMAGE:5314250.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RCU7, ENST00000321196.1, ENST00000321196.2, ENST00000321196.3, ENST00000321196.4, ENST00000321196.5, ENST00000321196.6, ENST00000321196.7, NM_152588, Q8N2K8, Q8N394, TMTC2 , TMTC2_HUMAN, uc317qzy.1, uc317qzy.2
UCSC ID: ENST00000321196.8_4
RefSeq Accession: NM_152588.3
Protein: Q8N394 (aka TMTC2_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.