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Aliases for NUFIP2 Gene

Aliases for NUFIP2 Gene

  • NUFIP2, FMR1 Interacting Protein 2 2 3 5
  • Nuclear Fragile X Mental Retardation Protein Interacting Protein 2 2 3
  • Cell Proliferation-Inducing Gene 1 Protein 3 4
  • 82 KDa FMRP-Interacting Protein 3 4
  • FMRP-Interacting Protein 2 3 4
  • 82-FIP 3 4
  • Nuclear Fragile X Mental Retardation-Interacting Protein 2 3
  • Fragile X Mental Retardation Protein 3
  • 82-KD FMRP Interacting Protein 3
  • Proliferation-Inducing Gene 1 3
  • KIAA1321 4
  • 182-FIP 3
  • FIP-82 3
  • PIG1 3

External Ids for NUFIP2 Gene

Previous GeneCards Identifiers for NUFIP2 Gene

  • GC17M024613
  • GC17M027582
  • GC17M023791

Summaries for NUFIP2 Gene

GeneCards Summary for NUFIP2 Gene

NUFIP2 (NUFIP2, FMR1 Interacting Protein 2) is a Protein Coding gene. Diseases associated with NUFIP2 include Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb and Chromosome 17Q11.2 Deletion Syndrome. GO annotations related to this gene include poly(A) RNA binding and RNA binding.

UniProtKB/Swiss-Prot for NUFIP2 Gene

  • Binds RNA.

Gene Wiki entry for NUFIP2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NUFIP2 Gene

Genomics for NUFIP2 Gene

Regulatory Elements for NUFIP2 Gene

Enhancers for NUFIP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G029146 2 FANTOM5 Ensembl ENCODE dbSUPER 23.8 +144.4 144445 6.7 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 TBX21 MEF2D MYO18A NUFIP2 TIAF1 CRYBA1 ENSG00000264577 TMEM199 NEK8 PHF12 ENSG00000263709
GH17G029743 1.5 Ensembl ENCODE dbSUPER 27.7 -450.7 -450684 1.8 FOXA2 SIN3A FEZF1 ZNF2 YY1 SLC30A9 ZNF302 ZNF548 ZNF662 ZNF579 LRRC37BP1 CORO6 SUZ12P1 NUFIP2 SH3GL1P2 ENSG00000264290 LOC101927018 PHF12 ANKRD13B ENSG00000265908
GH17G029290 1.8 FANTOM5 ENCODE dbSUPER 13.5 +0.9 883 4.8 MLX CREB3L1 DMAP1 YY1 SLC30A9 ZNF263 SP3 NFYC TBX21 MEF2D ENSG00000264577 MYO18A SDF2 NUFIP2 TMEM199 NEK8 ANKRD13B SARM1 ENSG00000265474 RPL23A
GH17G029037 1.7 FANTOM5 Ensembl ENCODE dbSUPER 14.1 +254.7 254731 4.1 PKNOX1 TCF12 ZNF121 ZNF366 ZSCAN5C ZNF548 EGR2 CEBPB ZNF398 REST TIAF1 MYO18A NUFIP2 SEZ6 ENSG00000264577 TAOK1 NDUFS5P7
GH17G028807 1.6 FANTOM5 ENCODE dbSUPER 14.1 +483.7 483709 6.8 HDGF PKNOX1 CREB3L1 ARNT AGO1 SIN3A FEZF1 DMAP1 ZNF2 YY1 TRAF4 ENSG00000264577 ENSG00000265205 NUFIP2 ENSG00000265908 ERAL1 FAM222B FLOT2 DHRS13 LOC101927018
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NUFIP2 on UCSC Golden Path with GeneCards custom track

Promoters for NUFIP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000092862 1048 4200 MLX CREB3L1 DMAP1 YY1 SLC30A9 ZNF263 SP3 NFYC TBX21 MEF2D

Genomic Location for NUFIP2 Gene

Chromosome:
17
Start:
29,255,836 bp from pter
End:
29,294,148 bp from pter
Size:
38,313 bases
Orientation:
Minus strand

Genomic View for NUFIP2 Gene

Genes around NUFIP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUFIP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUFIP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUFIP2 Gene

Proteins for NUFIP2 Gene

  • Protein details for NUFIP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z417-NUFP2_HUMAN
    Recommended name:
    Nuclear fragile X mental retardation-interacting protein 2
    Protein Accession:
    Q7Z417
    Secondary Accessions:
    • A1L3A6
    • Q9P2M5

    Protein attributes for NUFIP2 Gene

    Size:
    695 amino acids
    Molecular mass:
    76121 Da
    Quaternary structure:
    • Interacts with FMR1 (via N-terminus). Interacts with DDX6 (PubMed:26184334).
    SequenceCaution:
    • Sequence=BAA92559.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for NUFIP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NUFIP2 Gene

Post-translational modifications for NUFIP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NUFIP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NUFIP2 Gene

Domains & Families for NUFIP2 Gene

Protein Domains for NUFIP2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NUFIP2: view

No data available for Gene Families and UniProtKB/Swiss-Prot for NUFIP2 Gene

Function for NUFIP2 Gene

Molecular function for NUFIP2 Gene

UniProtKB/Swiss-Prot Function:
Binds RNA.

Gene Ontology (GO) - Molecular Function for NUFIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 12837692
GO:0005515 protein binding IPI 12837692
genes like me logo Genes that share ontologies with NUFIP2: view
genes like me logo Genes that share phenotypes with NUFIP2: view

Animal Model Products

CRISPR Products

miRNA for NUFIP2 Gene

miRTarBase miRNAs that target NUFIP2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NUFIP2 Gene

Localization for NUFIP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUFIP2 Gene

Nucleus. Cytoplasm. Note=Distribution is cell cycle-modulated, being cytoplasmic in the G2/M phase and accumulating in nucleus during the G1 phase (PubMed:12837692). Upon cellular stress, relocalizes to stress granules (PubMed:26184334). {ECO:0000269 PubMed:12837692, ECO:0000269 PubMed:26184334}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NUFIP2 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for NUFIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 12837692
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 12837692
GO:0005829 cytosol IDA --
GO:0010494 cytoplasmic stress granule IDA 26184334
genes like me logo Genes that share ontologies with NUFIP2: view

Pathways & Interactions for NUFIP2 Gene

SuperPathways for NUFIP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NUFIP2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for NUFIP2 Gene

Transcripts for NUFIP2 Gene

mRNA/cDNA for NUFIP2 Gene

Unigene Clusters for NUFIP2 Gene

Nuclear fragile X mental retardation protein interacting protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NUFIP2 Gene

No ASD Table

Relevant External Links for NUFIP2 Gene

GeneLoc Exon Structure for
NUFIP2
ECgene alternative splicing isoforms for
NUFIP2

Expression for NUFIP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NUFIP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NUFIP2 Gene

This gene is overexpressed in Lung (58.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NUFIP2 Gene



Protein tissue co-expression partners for NUFIP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NUFIP2 Gene:

NUFIP2

SOURCE GeneReport for Unigene cluster for NUFIP2 Gene:

Hs.462598

Evidence on tissue expression from TISSUES for NUFIP2 Gene

  • Nervous system(4.7)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with NUFIP2: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NUFIP2 Gene

Orthologs for NUFIP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NUFIP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NUFIP2 34 35
  • 99.76 (n)
cow
(Bos Taurus)
Mammalia NUFIP2 34 35
  • 95.81 (n)
dog
(Canis familiaris)
Mammalia NUFIP2 34 35
  • 95.55 (n)
rat
(Rattus norvegicus)
Mammalia Nufip2 34
  • 94.11 (n)
mouse
(Mus musculus)
Mammalia Nufip2 34 16 35
  • 93.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NUFIP2 35
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NUFIP2 35
  • 30 (a)
OneToOne
chicken
(Gallus gallus)
Aves NUFIP2 34 35
  • 72.07 (n)
lizard
(Anolis carolinensis)
Reptilia NUFIP2 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nufip2 34
  • 68.25 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.29769 34
zebrafish
(Danio rerio)
Actinopterygii nufip2 34 35
  • 56.06 (n)
Species where no ortholog for NUFIP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NUFIP2 Gene

ENSEMBL:
Gene Tree for NUFIP2 (if available)
TreeFam:
Gene Tree for NUFIP2 (if available)

Paralogs for NUFIP2 Gene

No data available for Paralogs for NUFIP2 Gene

Variants for NUFIP2 Gene

Sequence variations from dbSNP and Humsavar for NUFIP2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000085198 -- 29,273,705(+) TAAAA(G/T)TTTTT intron-variant
rs1000165642 -- 29,267,797(+) ATAGC(C/T)GCATG intron-variant
rs1000375119 -- 29,261,589(+) GAAGT(C/T)TGTTT utr-variant-3-prime
rs1000398472 -- 29,260,729(+) TTGTC(A/G)TATTT utr-variant-3-prime
rs1000496660 -- 29,266,368(+) GAAGC(C/T)ACATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NUFIP2 Gene

Variant ID Type Subtype PubMed ID
esv2658759 CNV deletion 23128226
esv2671407 CNV deletion 23128226
esv2715796 CNV deletion 23290073
esv3554292 CNV deletion 23714750
esv3640323 CNV loss 21293372
nsv1070820 CNV deletion 25765185
nsv953873 CNV duplication 24416366

Variation tolerance for NUFIP2 Gene

Residual Variation Intolerance Score: 17.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.31; 53.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NUFIP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUFIP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUFIP2 Gene

Disorders for NUFIP2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NUFIP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chromosome 17q11.2 deletion syndrome, 1.4-mb
  • chromosome 17q11.2 deletion syndrome, 1.4mb
chromosome 17q11.2 deletion syndrome
  • chromosome 17q11.2 deletion syndrome, 1.4mb
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NUFIP2

Genetic Association Database (GAD)
NUFIP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NUFIP2
genes like me logo Genes that share disorders with NUFIP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NUFIP2 Gene

Publications for NUFIP2 Gene

  1. 82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization. (PMID: 12837692) Bardoni B. … Mandel J.-L. (Hum. Mol. Genet. 2003) 2 3 4 22 64
  2. Comprehensive Protein Interactome Analysis of a Key RNA Helicase: Detection of Novel Stress Granule Proteins. (PMID: 26184334) Bish R. … Vogel C. (Biomolecules 2015) 3 4 64
  3. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  5. The structure of the N-terminal domain of the fragile X mental retardation protein: a platform for protein-protein interaction. (PMID: 16407062) Ramos A. … Pastore A. (Structure 2006) 2 3 64

Products for NUFIP2 Gene

Sources for NUFIP2 Gene

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