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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. Gene Ontology (GO) annotations related to this gene include RNA binding.

UniProtKB/Swiss-Prot for NUFIP2 Gene

  • Binds RNA.

Gene Wiki entry for NUFIP2 Gene

Additional gene information 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

GeneHancer (GH) Regulatory Elements for NUFIP2 Gene

Promoters and enhancers for NUFIP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J029290 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 683.7 +0.9 882 4.8 MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC NUFIP2 ENSG00000264577 TMEM199 SUPT6H LOC101927018 ENSG00000264647 PHF12 RPL23A RAB34 ENSG00000266111
GH17J028944 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 77 +344.8 344809 8.9 CLOCK ZFP64 FEZF1 DMAP1 YY1 E2F8 ZNF143 ZNF263 SP3 NFYC PHF12 PIPOX SUPT6H NUFIP2 ENSG00000264577 SDF2 ENSG00000265205 ENSG00000265908 TMEM199 RPL23A
GH17J028737 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 65.5 +549.9 549928 13.9 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 ZNF263 SP3 TRAF4 ENSG00000265073 SUPT6H NUFIP2 ENSG00000264577 PHF12 ENSG00000265205 ENSG00000265908 TMEM199 SDF2
GH17J028715 Promoter/Enhancer 2.6 EPDnew Ensembl ENCODE dbSUPER 62.6 +571.2 571224 14.4 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ENSG00000264577 RAB34 RPL23A NEK8 SNORD42A GC17P028753 GC17P028748 PIR32969 SNORD4B SNORD4A
GH17J029586 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 52.4 -296.5 -296454 8.4 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 ZNF213 ANKRD13B GIT1 ENSG00000264647 SUPT6H NUFIP2 ENSG00000264577 PHF12 TP53I13 CORO6 GOSR1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NUFIP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NUFIP2 gene promoter:
  • Sox9
  • AREB6
  • HOXA5
  • SEF-1 (1)
  • FOXD1
  • MRF-2
  • FOXO1
  • FOXO1a
  • CUTL1
  • NF-kappaB

Genomic Locations for NUFIP2 Gene

Genomic Locations for NUFIP2 Gene
chr17:29,255,836-29,294,148
(GRCh38/hg38)
Size:
38,313 bases
Orientation:
Minus strand
chr17:27,582,854-27,621,166
(GRCh37/hg19)
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
    • A1L3A7
    • 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

Gene Families for NUFIP2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 UniProtKB/Swiss-Prot for NUFIP2 Gene

Function for NUFIP2 Gene

Molecular function for NUFIP2 Gene

UniProtKB/Swiss-Prot Function:
Binds RNA.

Phenotypes From GWAS Catalog for NUFIP2 Gene

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

miRNA for NUFIP2 Gene

miRTarBase miRNAs that target NUFIP2

Clone 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. Cytoplasm, Stress granule. Note=Distribution is cell cycle-modulated, being cytoplasmic in the G2/M phase and accumulating in nucleus during the G1 phase (PubMed:12837692). {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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NUFIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 12837692
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 12837692
GO:0005829 cytosol IDA --
GO:0010494 cytoplasmic stress granule IDA,IEA 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

Drugs & Compounds for NUFIP2 Gene

No Compound Related Data Available

Transcripts for NUFIP2 Gene

mRNA/cDNA for NUFIP2 Gene

(2) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(407) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NUFIP2 Gene

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

Clone 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, 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

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 33
  • 99.76 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NUFIP2 34 33
  • 95.81 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NUFIP2 34 33
  • 95.55 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nufip2 33
  • 94.11 (n)
mouse
(Mus musculus)
Mammalia Nufip2 16 34 33
  • 93.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NUFIP2 34
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NUFIP2 34
  • 30 (a)
OneToOne
chicken
(Gallus gallus)
Aves NUFIP2 34 33
  • 72.07 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NUFIP2 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nufip2 33
  • 68.25 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.29769 33
zebrafish
(Danio rerio)
Actinopterygii nufip2 34 33
  • 56.06 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for NUFIP2: view image

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 Variation AA Info Type
rs1000085198 -- 29,273,705(-) G/T intron_variant
rs1000165642 -- 29,267,797(-) C/T intron_variant
rs1000375119 -- 29,261,589(-) T/C 3_prime_UTR_variant
rs1000398472 -- 29,260,729(-) A/G 3_prime_UTR_variant
rs1000496660 -- 29,266,368(-) T/C 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)

Additional Variant Information 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

(1) MalaCards diseases for NUFIP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chromosome 17q11.2 deletion syndrome, 1.4-mb
  • neurofibromatosis 1 microdeletion syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 JL (Human molecular genetics 2003) 2 3 4 22 58
  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 58
  3. 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 (London, England : 1993) 2006) 2 3 58
  4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 58
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58

Products for NUFIP2 Gene

Sources for NUFIP2 Gene