Human Gene TMEM252 (ENST00000377311.4_7) from GENCODE V47lift37
  Description: transmembrane protein 252 (from RefSeq NM_153237.2)
Gencode Transcript: ENST00000377311.4_7
Gencode Gene: ENSG00000181778.5_8
Transcript (Including UTRs)
   Position: hg19 chr9:71,151,496-71,155,799 Size: 4,304 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr9:71,152,175-71,155,730 Size: 3,556 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray 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 (chr9:71,151,496-71,155,799)mRNA (may differ from genome)Protein (170 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TM252_HUMAN
DESCRIPTION: RecName: Full=Transmembrane protein 252;
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


-  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: 12.81 RPKM in Kidney - Cortex
Total median expression: 65.64 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.0069-0.232 Picture PostScript Text
3' UTR -212.80679-0.313 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:
PF15664 - Transmembrane protein 252 family

ModBase Predicted Comparative 3D Structure on Q8N6L7
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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 SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  BC029780 - Homo sapiens chromosome 9 open reading frame 71, mRNA (cDNA clone MGC:34760 IMAGE:5185747), complete cds.
JD371736 - Sequence 352760 from Patent EP1572962.
JD268523 - Sequence 249547 from Patent EP1572962.
JD246430 - Sequence 227454 from Patent EP1572962.
JD385755 - Sequence 366779 from Patent EP1572962.
JD122495 - Sequence 103519 from Patent EP1572962.
JD415678 - Sequence 396702 from Patent EP1572962.
JD397468 - Sequence 378492 from Patent EP1572962.
JD504873 - Sequence 485897 from Patent EP1572962.
JD159540 - Sequence 140564 from Patent EP1572962.
JD188613 - Sequence 169637 from Patent EP1572962.
JD108981 - Sequence 90005 from Patent EP1572962.
JD065397 - Sequence 46421 from Patent EP1572962.
KJ895755 - Synthetic construct Homo sapiens clone ccsbBroadEn_05149 C9orf71 gene, encodes complete protein.
DQ890797 - Synthetic construct clone IMAGE:100003427; FLH166011.01X; RZPDo839B1086D chromosome 9 open reading frame 71 (C9orf71) gene, encodes complete protein.
DQ893952 - Synthetic construct Homo sapiens clone IMAGE:100008412; FLH166007.01L; RZPDo839B1085D chromosome 9 open reading frame 71 (C9orf71) gene, encodes complete protein.
JD065576 - Sequence 46600 from Patent EP1572962.
JD108264 - Sequence 89288 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: C9orf71, ENST00000377311.1, ENST00000377311.2, ENST00000377311.3, NM_153237, Q8N6L7, TM252_HUMAN, uc318nni.1, uc318nni.2
UCSC ID: ENST00000377311.4_7
RefSeq Accession: NM_153237.2
Protein: Q8N6L7 (aka TM252_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.