Human Gene TMC3 (ENST00000359440.6_11) from GENCODE V47lift37
  Description: transmembrane channel like 3 (from RefSeq NM_001080532.3)
Gencode Transcript: ENST00000359440.6_11
Gencode Gene: ENSG00000188869.13_13
Transcript (Including UTRs)
   Position: hg19 chr15:81,623,429-81,666,554 Size: 43,126 Total Exon Count: 22 Strand: -
Coding Region
   Position: hg19 chr15:81,624,760-81,666,418 Size: 41,659 Coding Exon Count: 22 

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 (chr15:81,623,429-81,666,554)mRNA (may differ from genome)Protein (1100 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TMC3_HUMAN
DESCRIPTION: RecName: Full=Transmembrane channel-like protein 3;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
SIMILARITY: Belongs to the TMC family.
SEQUENCE CAUTION: Sequence=AAP78778.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Due to an insert of 27 undefined residues;

-  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: TMC3
Diseases sorted by gene-association score: epidermodysplasia verruciformis (14), deafness, autosomal recessive 48 (13)

-  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: 0.38 RPKM in Testis
Total median expression: 4.34 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 -40.60136-0.299 Picture PostScript Text
3' UTR -448.501331-0.337 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
IPR012496 - TMC

Pfam Domains:
PF07810 - TMC domain

ModBase Predicted Comparative 3D Structure on Q7Z5M5
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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 orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGD  WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0006811 ion transport

Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BX640632 - Homo sapiens mRNA; cDNA DKFZp686L09244 (from clone DKFZp686L09244).
AY263163 - Homo sapiens TMC3 protein (TMC3) mRNA, complete cds.
BC157874 - Homo sapiens transmembrane channel-like 3, mRNA (cDNA clone MGC:189768 IMAGE:9057092), complete cds.
BC132679 - Homo sapiens transmembrane channel-like 3, mRNA (cDNA clone MGC:164310 IMAGE:40146701), complete cds.
BC143410 - Homo sapiens transmembrane channel-like 3, mRNA (cDNA clone MGC:176934 IMAGE:9051917), complete cds.
AY236490 - Homo sapiens transmembrane channel-like protein 3 (TMC3) mRNA, complete cds.
JD513433 - Sequence 494457 from Patent EP1572962.
JD319114 - Sequence 300138 from Patent EP1572962.
JD454609 - Sequence 435633 from Patent EP1572962.
JD180824 - Sequence 161848 from Patent EP1572962.
JD042650 - Sequence 23674 from Patent EP1572962.
JD123185 - Sequence 104209 from Patent EP1572962.
JD076015 - Sequence 57039 from Patent EP1572962.
JD332284 - Sequence 313308 from Patent EP1572962.
JD047437 - Sequence 28461 from Patent EP1572962.
JD519864 - Sequence 500888 from Patent EP1572962.
JD413230 - Sequence 394254 from Patent EP1572962.
JD123559 - Sequence 104583 from Patent EP1572962.
JD270662 - Sequence 251686 from Patent EP1572962.
JD081036 - Sequence 62060 from Patent EP1572962.
JD375676 - Sequence 356700 from Patent EP1572962.
JD564798 - Sequence 545822 from Patent EP1572962.
JD173865 - Sequence 154889 from Patent EP1572962.
JD085314 - Sequence 66338 from Patent EP1572962.
JD257454 - Sequence 238478 from Patent EP1572962.
JD159903 - Sequence 140927 from Patent EP1572962.
JD539251 - Sequence 520275 from Patent EP1572962.
JD092582 - Sequence 73606 from Patent EP1572962.
JD110537 - Sequence 91561 from Patent EP1572962.
JD176615 - Sequence 157639 from Patent EP1572962.
JD387074 - Sequence 368098 from Patent EP1572962.
JD250543 - Sequence 231567 from Patent EP1572962.
JD321690 - Sequence 302714 from Patent EP1572962.
JD290855 - Sequence 271879 from Patent EP1572962.
JD509416 - Sequence 490440 from Patent EP1572962.
JD452232 - Sequence 433256 from Patent EP1572962.
JD453224 - Sequence 434248 from Patent EP1572962.
JD244431 - Sequence 225455 from Patent EP1572962.
JD087852 - Sequence 68876 from Patent EP1572962.
JD159611 - Sequence 140635 from Patent EP1572962.
JD401412 - Sequence 382436 from Patent EP1572962.
JD411648 - Sequence 392672 from Patent EP1572962.
JD304416 - Sequence 285440 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A2RTY2, B2RXJ3, ENST00000359440.1, ENST00000359440.2, ENST00000359440.3, ENST00000359440.4, ENST00000359440.5, NM_001080532, Q7Z405, Q7Z5M5, TMC3 , TMC3_HUMAN, uc318bbc.1, uc318bbc.2
UCSC ID: ENST00000359440.6_11
RefSeq Accession: NM_001080532.3
Protein: Q7Z5M5 (aka TMC3_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.