Human Gene CFAP410 (uc002zeq.2)
  Description: Homo sapiens chromosome 21 open reading frame 2 (CFAP410), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.
RefSeq Summary (NM_001271441): Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012].
Transcript (Including UTRs)
   Position: hg19 chr21:45,748,827-45,759,285 Size: 10,459 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr21:45,750,081-45,759,077 Size: 8,997 Coding Exon Count: 7 

Page IndexSequence and LinksPrimersGene AllelesRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther NamesGeneReviews
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:45,748,827-45,759,285)mRNA (may differ from genome)Protein (375 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGeneCardsH-INVLynx
MGIOMIMPubMedTreefamUniProtKBBioGrid CRISPR DB

-  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


+  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: 28.01 RPKM in Pituitary
Total median expression: 706.48 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 -105.80208-0.509 Picture PostScript Text
3' UTR -545.891254-0.435 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
IPR001611 - Leu-rich_rpt
IPR025875 - Leu-rich_rpt_2_copies
IPR003603 - U2A'_phosphoprotein32A_C

SCOP Domains:
52047 - RNI-like
52058 - L domain-like
52075 - Outer arm dynein light chain 1

ModBase Predicted Comparative 3D Structure on Q8N5X6
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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  Z93322 - H.sapiens mRNA; IMAGE cDNA clone 308937.
Y11392 - Homo sapiens mRNA; candidate gene for APECED.
JD438461 - Sequence 419485 from Patent EP1572962.
JD470178 - Sequence 451202 from Patent EP1572962.
JD338258 - Sequence 319282 from Patent EP1572962.
JD101511 - Sequence 82535 from Patent EP1572962.
JD436874 - Sequence 417898 from Patent EP1572962.
JD294520 - Sequence 275544 from Patent EP1572962.
JD165526 - Sequence 146550 from Patent EP1572962.
JD116143 - Sequence 97167 from Patent EP1572962.
JD209702 - Sequence 190726 from Patent EP1572962.
JD241450 - Sequence 222474 from Patent EP1572962.
JD098457 - Sequence 79481 from Patent EP1572962.
JD530067 - Sequence 511091 from Patent EP1572962.
JD452822 - Sequence 433846 from Patent EP1572962.
JD560620 - Sequence 541644 from Patent EP1572962.
JD338836 - Sequence 319860 from Patent EP1572962.
JD460596 - Sequence 441620 from Patent EP1572962.
JD182080 - Sequence 163104 from Patent EP1572962.
JD048685 - Sequence 29709 from Patent EP1572962.
JD234994 - Sequence 216018 from Patent EP1572962.
JD309336 - Sequence 290360 from Patent EP1572962.
AB209578 - Homo sapiens mRNA for C21orf2 protein variant protein.
BC072012 - Homo sapiens chromosome 21 open reading frame 2, mRNA (cDNA clone MGC:88722 IMAGE:6645626), complete cds.
BC031300 - Homo sapiens chromosome 21 open reading frame 2, mRNA (cDNA clone MGC:39230 IMAGE:4878257), complete cds.
U84569 - Human YF5 mRNA, complete cds.
U84570 - Human A2 mRNA, complete cds.
JD142745 - Sequence 123769 from Patent EP1572962.
JD335768 - Sequence 316792 from Patent EP1572962.
JD149244 - Sequence 130268 from Patent EP1572962.
JD322369 - Sequence 303393 from Patent EP1572962.
JD458249 - Sequence 439273 from Patent EP1572962.
HQ447674 - Synthetic construct Homo sapiens clone IMAGE:100071115; CCSB012657_01 chromosome 21 open reading frame 2 (C21orf2) gene, encodes complete protein.
KJ904426 - Synthetic construct Homo sapiens clone ccsbBroadEn_13820 C21orf2 gene, encodes complete protein.
CU689146 - Synthetic construct Homo sapiens gateway clone IMAGE:100021923 5' read C21orf2 mRNA.
JD365831 - Sequence 346855 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: C21orf2, hCG_401309, NM_001271441, NP_001258370, Q8N5X6, Q8N5X6_HUMAN
UCSC ID: uc002zeq.2
RefSeq Accession: NM_001271441
Protein: Q8N5X6 CCDS: CCDS59444.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene CFAP410:
als-overview (Amyotrophic Lateral Sclerosis Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001271441.1
exon count: 7CDS single in 3' UTR: no RNA size: 2611
ORF size: 1128CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1983.00frame shift in genome: no % Coverage: 99.20
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.