Human Gene NUFIP2 (uc002hdy.4) Description and Page Index
  Description: Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr17:27,582,854-27,621,166 Size: 38,313 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr17:27,591,557-27,621,077 Size: 29,521 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:27,582,854-27,621,166)mRNA (may differ from genome)Protein (695 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: NUFP2_HUMAN
DESCRIPTION: RecName: Full=Nuclear fragile X mental retardation-interacting protein 2; AltName: Full=82 kDa FMRP-interacting protein; Short=82-FIP; AltName: Full=Cell proliferation-inducing gene 1 protein; AltName: Full=FMRP-interacting protein 2;
FUNCTION: Binds RNA.
SUBUNIT: Interacts with FMRP.
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Distribution is cell cycle-modulated, being cytoplasmic in the G2/M phase and accumulating in nucleus during the G1 phase.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SEQUENCE CAUTION: Sequence=BAA92559.1; Type=Erroneous initiation;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NUFIP2
CDC HuGE Published Literature: NUFIP2
Positive Disease Associations: Cholesterol, HDL
Related Studies:
  1. Cholesterol, HDL
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.

-  MalaCards Disease Associations
  MalaCards Gene Search: NUFIP2
Diseases sorted by gene-association score: chromosome 17q11.2 deletion syndrome, 1.4-mb (2)

-  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: 15.20 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 465.12 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 -26.0089-0.292 Picture PostScript Text
3' UTR -2277.958703-0.262 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:
PF15293 - Nuclear fragile X mental retardation-interacting protein 2

ModBase Predicted Comparative 3D Structure on Q7Z417
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:0003723 RNA binding
GO:0005515 protein binding

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0010494 cytoplasmic stress granule
GO:0016020 membrane
GO:0016604 nuclear body
GO:0042788 polysomal ribosome


-  Descriptions from all associated GenBank mRNAs
  AK001838 - Homo sapiens cDNA FLJ10976 fis, clone PLACE1001399.
BC056662 - Homo sapiens cDNA clone IMAGE:4045027, partial cds.
JD254673 - Sequence 235697 from Patent EP1572962.
JD489035 - Sequence 470059 from Patent EP1572962.
AJ493465 - Homo sapiens mRNA for FMRP interacting protein (82-FIP gene).
AB037742 - Homo sapiens KIAA1321 mRNA for KIAA1321 protein.
JD501337 - Sequence 482361 from Patent EP1572962.
JD418061 - Sequence 399085 from Patent EP1572962.
JD469724 - Sequence 450748 from Patent EP1572962.
JD167340 - Sequence 148364 from Patent EP1572962.
JD305105 - Sequence 286129 from Patent EP1572962.
JD326717 - Sequence 307741 from Patent EP1572962.
JD147914 - Sequence 128938 from Patent EP1572962.
JD337398 - Sequence 318422 from Patent EP1572962.
JD167709 - Sequence 148733 from Patent EP1572962.
JD429551 - Sequence 410575 from Patent EP1572962.
JD490836 - Sequence 471860 from Patent EP1572962.
JD431168 - Sequence 412192 from Patent EP1572962.
JD434839 - Sequence 415863 from Patent EP1572962.
JD557186 - Sequence 538210 from Patent EP1572962.
JD537099 - Sequence 518123 from Patent EP1572962.
JD080278 - Sequence 61302 from Patent EP1572962.
JD550156 - Sequence 531180 from Patent EP1572962.
JD282130 - Sequence 263154 from Patent EP1572962.
JD244290 - Sequence 225314 from Patent EP1572962.
JD231658 - Sequence 212682 from Patent EP1572962.
JD324107 - Sequence 305131 from Patent EP1572962.
JD061567 - Sequence 42591 from Patent EP1572962.
JD345420 - Sequence 326444 from Patent EP1572962.
JD437602 - Sequence 418626 from Patent EP1572962.
JD419930 - Sequence 400954 from Patent EP1572962.
JD050503 - Sequence 31527 from Patent EP1572962.
JD233934 - Sequence 214958 from Patent EP1572962.
JD113807 - Sequence 94831 from Patent EP1572962.
BC129989 - Homo sapiens nuclear fragile X mental retardation protein interacting protein 2, mRNA (cDNA clone IMAGE:40128901), complete cds.
BC129990 - Homo sapiens nuclear fragile X mental retardation protein interacting protein 2, mRNA (cDNA clone MGC:157732 IMAGE:40128910), complete cds.
JD424688 - Sequence 405712 from Patent EP1572962.
BC108307 - Homo sapiens nuclear fragile X mental retardation protein interacting protein 2, mRNA (cDNA clone MGC:117262 IMAGE:6502841), complete cds.
AY232289 - Homo sapiens proliferation-inducing gene 1 mRNA, complete cds.
JD058603 - Sequence 39627 from Patent EP1572962.
JD301163 - Sequence 282187 from Patent EP1572962.
JD234720 - Sequence 215744 from Patent EP1572962.
JD548605 - Sequence 529629 from Patent EP1572962.
AK297732 - Homo sapiens cDNA FLJ53811 complete cds, highly similar to Nuclear fragile X mentalretardation-interacting protein 2.
JD044662 - Sequence 25686 from Patent EP1572962.
JD224893 - Sequence 205917 from Patent EP1572962.
AK293075 - Homo sapiens cDNA FLJ75095 complete cds, highly similar to Homo sapiens 82-kD FMRP Interacting Protein (182-FIP), mRNA.
JD516928 - Sequence 497952 from Patent EP1572962.
KJ894435 - Synthetic construct Homo sapiens clone ccsbBroadEn_03829 NUFIP2 gene, encodes complete protein.
KJ899347 - Synthetic construct Homo sapiens clone ccsbBroadEn_08741 NUFIP2 gene, encodes complete protein.
AB385448 - Synthetic construct DNA, clone: pF1KA1321, Homo sapiens NUFIP2 gene for nuclear fragile X mental retardation-interacting protein 2, complete cds, without stop codon, in Flexi system.

-  Other Names for This Gene
  Alternate Gene Symbols: KIAA1321, NM_020772, NP_065823, NUFP2_HUMAN, PIG1, Q7Z417, Q9P2M5
UCSC ID: uc002hdy.4
RefSeq Accession: NM_020772
Protein: Q7Z417 (aka NUFP2_HUMAN)
CCDS: CCDS32600.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_020772.2
exon count: 4CDS single in 3' UTR: no RNA size: 10897
ORF size: 2088CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4376.00frame shift in genome: no % Coverage: 99.84
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.