Human Gene TMEM248 (uc003tvk.3) Description and Page Index
  Description: Homo sapiens transmembrane protein 248 (TMEM248), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr7:66,386,203-66,423,538 Size: 37,336 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr7:66,406,853-66,420,509 Size: 13,657 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:66,386,203-66,423,538)mRNA (may differ from genome)Protein (314 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: TM248_HUMAN
DESCRIPTION: RecName: Full=Transmembrane protein 248;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
SIMILARITY: Belongs to the TMEM248 family.

-  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: 35.01 RPKM in Cervix - Endocervix
Total median expression: 1188.26 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 -143.90264-0.545 Picture PostScript Text
3' UTR -908.323029-0.300 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:
PF14940 - Transmembrane 219

ModBase Predicted Comparative 3D Structure on Q9NWD8
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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

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

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


-  Descriptions from all associated GenBank mRNAs
  AK222774 - Homo sapiens mRNA for hypothetical protein FLJ10099 variant, clone: HEP00189.
LF384037 - JP 2014500723-A/191540: Polycomb-Associated Non-Coding RNAs.
BC012562 - Homo sapiens chromosome 7 open reading frame 42, mRNA (cDNA clone MGC:13422 IMAGE:4332094), complete cds.
AK000961 - Homo sapiens cDNA FLJ10099 fis, clone HEMBA1002462.
BC008675 - Homo sapiens chromosome 7 open reading frame 42, mRNA (cDNA clone MGC:9741 IMAGE:3853834), complete cds.
JD141599 - Sequence 122623 from Patent EP1572962.
BC041764 - Homo sapiens chromosome 7 open reading frame 42, mRNA (cDNA clone MGC:21545 IMAGE:4152659), complete cds.
BC010519 - Homo sapiens chromosome 7 open reading frame 42, mRNA (cDNA clone MGC:16991 IMAGE:4150551), complete cds.
JD127767 - Sequence 108791 from Patent EP1572962.
LF359801 - JP 2014500723-A/167304: Polycomb-Associated Non-Coding RNAs.
CU679031 - Synthetic construct Homo sapiens gateway clone IMAGE:100017012 5' read C7orf42 mRNA.
JF432588 - Synthetic construct Homo sapiens clone IMAGE:100073825 chromosome 7 open reading frame 42 (C7orf42) gene, encodes complete protein.
AB587501 - Synthetic construct DNA, clone: pF1KB9297, Homo sapiens C7orf42 gene for chromosome 7 open reading frame 42, without stop codon, in Flexi system.
HQ448667 - Synthetic construct Homo sapiens clone IMAGE:100072108; CCSB002838_02 chromosome 7 open reading frame 42 (C7orf42) gene, encodes complete protein.
KJ894120 - Synthetic construct Homo sapiens clone ccsbBroadEn_03514 C7orf42 gene, encodes complete protein.
JD474842 - Sequence 455866 from Patent EP1572962.
LF359804 - JP 2014500723-A/167307: Polycomb-Associated Non-Coding RNAs.
LF359805 - JP 2014500723-A/167308: Polycomb-Associated Non-Coding RNAs.
LF359806 - JP 2014500723-A/167309: Polycomb-Associated Non-Coding RNAs.
LF359807 - JP 2014500723-A/167310: Polycomb-Associated Non-Coding RNAs.
LF359808 - JP 2014500723-A/167311: Polycomb-Associated Non-Coding RNAs.
JD238601 - Sequence 219625 from Patent EP1572962.
JD047972 - Sequence 28996 from Patent EP1572962.
JD351374 - Sequence 332398 from Patent EP1572962.
JD305989 - Sequence 287013 from Patent EP1572962.
JD137437 - Sequence 118461 from Patent EP1572962.
JD544672 - Sequence 525696 from Patent EP1572962.
LF359809 - JP 2014500723-A/167312: Polycomb-Associated Non-Coding RNAs.
AK023152 - Homo sapiens cDNA FLJ13090 fis, clone NT2RP3002142.
LF359810 - JP 2014500723-A/167313: Polycomb-Associated Non-Coding RNAs.
JD337855 - Sequence 318879 from Patent EP1572962.
JD463631 - Sequence 444655 from Patent EP1572962.
JD147870 - Sequence 128894 from Patent EP1572962.
LF359811 - JP 2014500723-A/167314: Polycomb-Associated Non-Coding RNAs.
BC022841 - Homo sapiens cDNA clone IMAGE:4907571, partial cds.
JD021310 - Sequence 2334 from Patent EP1572962.
JD029034 - Sequence 10058 from Patent EP1572962.
MA619614 - JP 2018138019-A/191540: Polycomb-Associated Non-Coding RNAs.
MA595378 - JP 2018138019-A/167304: Polycomb-Associated Non-Coding RNAs.
MA595381 - JP 2018138019-A/167307: Polycomb-Associated Non-Coding RNAs.
MA595382 - JP 2018138019-A/167308: Polycomb-Associated Non-Coding RNAs.
MA595383 - JP 2018138019-A/167309: Polycomb-Associated Non-Coding RNAs.
MA595384 - JP 2018138019-A/167310: Polycomb-Associated Non-Coding RNAs.
MA595385 - JP 2018138019-A/167311: Polycomb-Associated Non-Coding RNAs.
MA595386 - JP 2018138019-A/167312: Polycomb-Associated Non-Coding RNAs.
MA595387 - JP 2018138019-A/167313: Polycomb-Associated Non-Coding RNAs.
MA595388 - JP 2018138019-A/167314: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: C7orf42, NM_017994, NP_060464, Q53H07, Q96FR2, Q9NWD8, TM248_HUMAN
UCSC ID: uc003tvk.3
RefSeq Accession: NM_017994
Protein: Q9NWD8 (aka TM248_HUMAN)
CCDS: CCDS5536.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_017994.4
exon count: 7CDS single in 3' UTR: no RNA size: 4238
ORF size: 945CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2045.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.