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
  • Protein IMPACT 3 4
  • Impact Homolog (Mouse) 2
  • Impact Homolog 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 Anterograde Amnesia and Myringitis Bullosa Hemorrhagica.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for IMPACT Gene

Genomics for IMPACT Gene

GeneHancer (GH) Regulatory Elements for IMPACT Gene

Promoters and enhancers for IMPACT 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
GH18J024425 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.7 667 3 ZBTB40 ZNF217 CTCF MYC POLR2G GTF2E2 PHF8 TEAD4 ZFX ZIC2 IMPACT lnc-OSBPL1A-11 HRH4 ENSG00000199636
GH18J024395 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 8.9 -29.6 -29633 4.8 ZSCAN5C USF1 PHF8 TEAD4 ZIC2 POLR2A CLOCK ZBTB26 UBTF KLF4 OSBPL1A lnc-ZNF521-4 RMC1 IMPACT piR-57133-274
GH18J024362 Enhancer 0.6 Ensembl ENCODE 12.6 -63.6 -63635 1.2 GATA3 DPF2 SMARCE1 ZNF770 FOXA1 ENSG00000264365 OSBPL1A IMPACT ENSG00000199636 MIR320C2 piR-41525-308 lnc-ZNF521-4
GH18J024460 Promoter/Enhancer 0.8 EPDnew Ensembl 7.5 +37.2 37167 8.8 USF1 SPI1 ZNF189 FOXP1 POLR2A HRH4 IMPACT ENSG00000264695
GH18J024402 Enhancer 0.4 Ensembl 9.7 -24.1 -24133 0.6 CTCF USF1 RAD21 BCL6B ZNF580 ENSG00000273321 IMPACT lnc-OSBPL1A-11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IMPACT on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IMPACT

Top Transcription factor binding sites by QIAGEN in the IMPACT gene promoter:
  • LCR-F1
  • NRSF form 1
  • NRSF form 2
  • SRF
  • SRF (504 AA)
  • YY1

Genomic Locations for IMPACT Gene

Genomic Locations for IMPACT Gene
chr18:24,426,634-24,453,531
(GRCh38/hg38)
Size:
26,898 bases
Orientation:
Plus strand
chr18:22,006,580-22,033,499
(GRCh37/hg19)
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

Protein Domains for IMPACT Gene

Blocks:
  • Ubiquitin-conjugating enzymes
  • RWD
  • Protein of unknown function UPF0029
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IMPACT Gene

GenScript: Design optimal peptide antigens:
  • Imprinted and ancient gene protein homolog (IMPCT_HUMAN)
  • IMPACT (Q5GFE0_HUMAN)

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.

Phenotypes From GWAS Catalog for IMPACT Gene

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:0005515 protein 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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 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 IEA,ISS --
genes like me logo Genes that share ontologies with IMPACT: view

Pathways & Interactions for IMPACT Gene

PathCards logo

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 by RNA polymerase II 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

(43) Drugs for IMPACT Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aripiprazole Approved, Investigational Pharma Antagonist, Full agonist, Agonist Antipsychotic, High affinity D2 and 5-HT1A receptor partial agonist; also 5-HT2A antagonist 395
Asenapine Approved Pharma Antagonist, Full agonist, Agonist Inhibits adrenergic receptor/5-HT receptor 57
Coal tar Approved Pharma 293
Dopamine Approved Pharma Full agonist, Agonist 4787
Fluoxetine Approved, Vet_approved Pharma Channel blocker, Antagonist, Inhibition, Inhibitor 272
genes like me logo Genes that share compounds with IMPACT: view

Transcripts for IMPACT Gene

mRNA/cDNA for IMPACT Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for IMPACT Gene

GeneLoc Exon Structure for
IMPACT

Expression for IMPACT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for IMPACT Gene



Protein tissue co-expression partners for IMPACT Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(2.3)
genes like me logo Genes that share expression patterns with IMPACT: view

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 31 30
  • 99.69 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IMPACT 31 30
  • 93.51 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IMPACT 31 30
  • 92.85 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Impact 30
  • 83.77 (n)
mouse
(Mus musculus)
Mammalia Impact 17 31 30
  • 82.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IMPACT 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves IMPACT 31 30
  • 73.03 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IMPACT 31
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia impact 30
  • 66 (n)
Str.10218 30
African clawed frog
(Xenopus laevis)
Amphibia impact-A-prov 30
zebrafish
(Danio rerio)
Actinopterygii impact 31 30
  • 64.63 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y52B11A.2 30
  • 52.36 (n)
Y52B11A.2 31
  • 39 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C08932g 30
  • 53.23 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YIH1 33 31 30
  • 50.71 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR055W 30
  • 45.47 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 51 (a)
OneToOne
Cin.4799 30
bread mold
(Neurospora crassa)
Ascomycetes NCU09542 30
  • 43.72 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4799 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC27E2.02 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for IMPACT: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IMPACT Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs544203385 - p.Ala74Val
rs582234 - p.Asp125Glu
rs677688 - p.Leu151Val

Additional dbSNP identifiers (rs#s) for IMPACT Gene

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
anterograde amnesia
  • amnesia, anterograde
myringitis bullosa hemorrhagica
  • bullous myringitis
retrograde amnesia
  • amnesia, retrograde
schizophrenia 18
  • chromosome 7q36.3 duplication syndrome, 362-kb
amnestic disorder
  • amnesia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 54
  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 54
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  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 54
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 54

Products for IMPACT Gene

Sources for IMPACT Gene