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Aliases for IMPACT Gene

Aliases for IMPACT Gene

  • Impact RWD Domain Protein 2 3 5
  • Imprinted And Ancient Gene Protein Homolog 3 4
  • RWD Domain Containing 5 2 3
  • Impact Homolog (Mouse) 2
  • Impact Homolog 3
  • Protein IMPACT 3
  • RWDD5 3

External Ids for IMPACT Gene

Previous GeneCards Identifiers for IMPACT Gene

  • GC18P021899
  • GC18P021738
  • GC18P020258
  • GC18P020260
  • GC18P022006
  • GC18P018862

Summaries for IMPACT Gene

GeneCards Summary for IMPACT Gene

IMPACT (Impact RWD Domain Protein) is a Protein Coding gene. Diseases associated with IMPACT include Spinocerebellar Ataxia 28 and Spastic Paraplegia 7, Autosomal Recessive.

UniProtKB/Swiss-Prot for IMPACT Gene

  • Translational regulator that ensures constant high levels of translation upon a variety of stress conditions, such as amino acid starvation, UV-C irradiation, proteasome inhibitor treatment and glucose deprivation. Plays a role as a negative regulator of the EIF2AK4/GCN2 kinase activity; impairs GCN1-mediated EIF2AK4/GCN2 activation, and hence EIF2AK4/GCN2-mediated eIF-2-alpha phosphorylation and subsequent down-regulation of protein synthesis. May be required to regulate translation in specific neuronal cells under amino acid starvation conditions by preventing GCN2 activation and therefore ATF4 synthesis. Through its inhibitory action on EIF2AK4/GCN2, plays a role in differentiation of neuronal cells by stimulating neurite outgrowth.

Additional gene information for IMPACT Gene

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

Genomics for IMPACT Gene

Regulatory Elements for IMPACT Gene

Enhancers for IMPACT 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
GH18H024359 0.7 Ensembl 12.6 -66.6 -66634 0 CTCF ZNF654 ZNF362 ZNF280D ZFP37 ZNF384 REST ZNF2 RAD21 ZSCAN21 IMPACT ENSG00000199636 MIR320C2 ENSG00000264365
GH18H024396 1 ENCODE 8.8 -28.8 -28843 2 HDGF PKNOX1 SIN3A ZNF2 YY1 GLIS2 KLF7 SP3 SP5 YY2 C18orf8 IMPACT OSBPL1A ENSG00000264365
GH18H024362 0.5 ENCODE 12.6 -63.7 -63712 1 SMARCE1 GATA3 DPF2 OSBPL1A IMPACT ENSG00000199636 MIR320C2 ENSG00000264365
GH18H024425 1.1 ENCODE 0.7 +0.5 453 2 PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 SP3 REST ZNF592 IMPACT GC18P024430
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IMPACT on UCSC Golden Path with GeneCards custom track

Promoters for IMPACT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000101582 285 1800 PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 SP3 REST ZNF592

Genomic Location for IMPACT Gene

Chromosome:
18
Start:
24,426,616 bp from pter
End:
24,453,535 bp from pter
Size:
26,920 bases
Orientation:
Plus strand

Genomic View for IMPACT Gene

Genes around IMPACT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for IMPACT Gene

Proteins for IMPACT Gene

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

    Protein Symbol:
    Q9P2X3-IMPCT_HUMAN
    Recommended name:
    Protein IMPACT
    Protein Accession:
    Q9P2X3
    Secondary Accessions:
    • A8MXG0
    • Q49AM0
    • Q9H2X4

    Protein attributes for IMPACT Gene

    Size:
    320 amino acids
    Molecular mass:
    36476 Da
    Quaternary structure:
    • Interacts with GCN1; prevents the interaction of GCN1 with EIF2AK4/GCN2 and inhibits EIF2AK4/GCN2 kinase activity. Interaction with RPL39; this interaction occurs in a GCN1-independent manner. Associates with ribosomes; this interaction occurs in a GCN1-independent manner. Associates with actin; this interaction occurs in a GCN1-independent manner.
    Miscellaneous:
    • In contrast to the mouse or rabbit ortholog, the IMPACT locus is not imprinted in human.

    Alternative splice isoforms for IMPACT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IMPACT Gene

Post-translational modifications for IMPACT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IMPACT Gene

No data available for DME Specific Peptides for IMPACT Gene

Domains & Families for IMPACT Gene

Gene Families for IMPACT Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for IMPACT Gene

Graphical View of Domain Structure for InterPro Entry

Q9P2X3

UniProtKB/Swiss-Prot:

IMPCT_HUMAN :
  • Belongs to the IMPACT family.
Family:
  • Belongs to the IMPACT family.
genes like me logo Genes that share domains with IMPACT: view

Function for IMPACT Gene

Molecular function for IMPACT Gene

UniProtKB/Swiss-Prot Function:
Translational regulator that ensures constant high levels of translation upon a variety of stress conditions, such as amino acid starvation, UV-C irradiation, proteasome inhibitor treatment and glucose deprivation. Plays a role as a negative regulator of the EIF2AK4/GCN2 kinase activity; impairs GCN1-mediated EIF2AK4/GCN2 activation, and hence EIF2AK4/GCN2-mediated eIF-2-alpha phosphorylation and subsequent down-regulation of protein synthesis. May be required to regulate translation in specific neuronal cells under amino acid starvation conditions by preventing GCN2 activation and therefore ATF4 synthesis. Through its inhibitory action on EIF2AK4/GCN2, plays a role in differentiation of neuronal cells by stimulating neurite outgrowth.

Gene Ontology (GO) - Molecular Function for IMPACT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003779 actin binding IEA --
GO:0043022 ribosome binding IEA --
genes like me logo Genes that share ontologies with IMPACT: view
genes like me logo Genes that share phenotypes with IMPACT: view

Animal Model Products

CRISPR Products

miRNA for IMPACT Gene

miRTarBase miRNAs that target IMPACT

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for IMPACT
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for IMPACT Gene

Localization for IMPACT Gene

Subcellular locations from UniProtKB/Swiss-Prot for IMPACT Gene

Cytoplasm.

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 IMPACT gene
Compartment Confidence
nucleus 3
cytosol 3
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IMPACT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
GO:0005844 polysome ISS,IEA --
genes like me logo Genes that share ontologies with IMPACT: view

Pathways & Interactions for IMPACT Gene

SuperPathways for IMPACT Gene

No Data Available

Gene Ontology (GO) - Biological Process for IMPACT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001933 negative regulation of protein phosphorylation IEA,ISS --
GO:0006417 regulation of translation IEA --
GO:0006446 regulation of translational initiation IEA --
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with IMPACT: view

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

Drugs & Compounds for IMPACT Gene

(42) Drugs for IMPACT Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aripiprazole Approved, Investigational Pharma Antagonist Antipsychotic, High affinity D2 and 5-HT1A receptor partial agonist; also 5-HT2A antagonist 366
Asenapine Approved Pharma Antagonist Inhibits adrenergic receptor/5-HT receptor 54
Coal tar Approved Pharma 210
Dopamine Approved Pharma Full agonist, Agonist 3926
Fluoxetine Approved, Vet_approved Pharma Channel blocker 243
genes like me logo Genes that share compounds with IMPACT: view

Transcripts for IMPACT Gene

Unigene Clusters for IMPACT Gene

Impact RWD domain protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for IMPACT
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for IMPACT Gene

GeneLoc Exon Structure for
IMPACT
ECgene alternative splicing isoforms for
IMPACT

Expression for IMPACT Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IMPACT Gene

This gene is overexpressed in Heart (17.4).

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



Protein tissue co-expression partners for IMPACT Gene

NURSA nuclear receptor signaling pathways regulating expression of IMPACT Gene:

IMPACT

SOURCE GeneReport for Unigene cluster for IMPACT Gene:

Hs.515317

mRNA Expression by UniProt/SwissProt for IMPACT Gene:

Q9P2X3-IMPCT_HUMAN
Tissue specificity: Widely expressed. Expressed at high level in brain.

Evidence on tissue expression from TISSUES for IMPACT Gene

  • Nervous system(4.5)
  • Liver(4.2)
  • Lung(4.2)
  • Thyroid gland(2.2)
genes like me logo Genes that share expression patterns with IMPACT: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for IMPACT Gene

Orthologs for IMPACT Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for IMPACT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IMPACT 33 34
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia IMPACT 33 34
  • 93.51 (n)
cow
(Bos Taurus)
Mammalia IMPACT 33 34
  • 92.85 (n)
rat
(Rattus norvegicus)
Mammalia Impact 33
  • 83.77 (n)
mouse
(Mus musculus)
Mammalia Impact 33 16 34
  • 82.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IMPACT 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves IMPACT 33 34
  • 73.03 (n)
lizard
(Anolis carolinensis)
Reptilia IMPACT 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia impact 33
  • 66 (n)
Str.10218 33
African clawed frog
(Xenopus laevis)
Amphibia impact-A-prov 33
zebrafish
(Danio rerio)
Actinopterygii impact 33 34
  • 64.63 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y52B11A.2 33
  • 52.36 (n)
Y52B11A.2 34
  • 39 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C08932g 33
  • 53.23 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YIH1 33 34 36
  • 50.71 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR055W 33
  • 45.47 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU09542 33
  • 43.72 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4799 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC27E2.02 33
Species where no ortholog for IMPACT was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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 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)

Evolution for IMPACT Gene

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

Paralogs for IMPACT Gene

Pseudogenes.org Pseudogenes for IMPACT Gene

genes like me logo Genes that share paralogs with IMPACT: view

No data available for Paralogs for IMPACT Gene

Variants for IMPACT Gene

Sequence variations from dbSNP and Humsavar for IMPACT Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs1000049170 -- 24,450,655(+) TATAC(A/G)TACAT intron-variant
rs1000055527 -- 24,431,950(+) ACCCA(C/T)CTTGG intron-variant
rs1000106015 -- 24,449,117(+) GCACT(C/T)TGGGA intron-variant
rs1000152760 -- 24,436,881(+) CTTAT(A/G)ATATT intron-variant
rs1000259593 -- 24,443,217(+) TTGCA(A/G)TAATC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv1072788 CNV deletion 25765185
nsv1121723 CNV deletion 24896259
nsv1149552 CNV deletion 26484159

Variation tolerance for IMPACT Gene

Residual Variation Intolerance Score: 87.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.97; 59.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IMPACT Gene

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

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

Disorders for IMPACT Gene

MalaCards: The human disease database

(2) MalaCards diseases for IMPACT Gene - From: DISEASES

Disorder Aliases PubMed IDs
spinocerebellar ataxia 28
  • spinocerebellar ataxia type 28
spastic paraplegia 7, autosomal recessive
  • hereditary spastic paraplegia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for IMPACT

Human Genome Epidemiology (HuGE) Navigator
IMPACT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IMPACT
genes like me logo Genes that share disorders with IMPACT: view

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

Publications for IMPACT Gene

  1. Comparative genome analysis of the mouse imprinted gene impact and its nonimprinted human homolog IMPACT: toward the structural basis for species-specific imprinting. (PMID: 11116084) Okamura K … Ito T (Genome research 2000) 2 3 4 60
  2. Human homolog of the mouse imprinted gene Impact resides at the pericentric region of chromosome 18 within the critical region for bipolar affective disorder. (PMID: 11244491) Kosaki K … Matsuo N (Molecular psychiatry 2001) 3 4 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures. (PMID: 27607563) Mahmud AA … Michaud JL (Clinical genetics 2017) 4 60
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 60

Products for IMPACT Gene

Sources for IMPACT Gene

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