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Aliases for ASCC2 Gene

Aliases for ASCC2 Gene

  • Activating Signal Cointegrator 1 Complex Subunit 2 2 3 5
  • ASC-1 Complex Subunit P100 3 4
  • Trip4 Complex Subunit P100 3 4
  • ASC1p100 3 4
  • ASC 1 Complex Subunit P100 2
  • P100 3

External Ids for ASCC2 Gene

Previous GeneCards Identifiers for ASCC2 Gene

  • GC22M028512
  • GC22M030184
  • GC22M013146

Summaries for ASCC2 Gene

GeneCards Summary for ASCC2 Gene

ASCC2 (Activating Signal Cointegrator 1 Complex Subunit 2) is a Protein Coding gene. Among its related pathways are DNA Damage Reversal and DNA Double-Strand Break Repair.

UniProtKB/Swiss-Prot for ASCC2 Gene

  • Enhances NF-kappa-B, SRF and AP1 transactivation.

Gene Wiki entry for ASCC2 Gene

Additional gene information for ASCC2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASCC2 Gene

Genomics for ASCC2 Gene

Regulatory Elements for ASCC2 Gene

Enhancers for ASCC2 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
GH22H030181 1.7 FANTOM5 Ensembl ENCODE dbSUPER 15.3 -345.4 -345432 4 HDAC1 PKNOX1 ATF1 TBL1XR1 TCF12 ZNF766 GATA2 RUNX3 SMARCA4 KLF16 LIF ASCC2 HORMAD2-AS1 LOC105372988 LIF-AS1 MTMR3 DUSP18 OSM SF3A1 RPS3AP51
GH22H029780 1.5 Ensembl ENCODE dbSUPER 16.4 +56.7 56680 2 PKNOX1 ARNT ARID4B TCF12 CBX5 GATA2 FOS ATF7 NCOA1 REST PES1 ASCC2 HORMAD2-AS1 SF3A1 RNU5F-5P UQCR10
GH22H030190 2 FANTOM5 Ensembl ENCODE dbSUPER 12.1 -357.0 -356989 9 PKNOX1 FOXA2 ZFP64 SIN3A FEZF1 ZNF2 FOS SP3 ZHX2 NFYC OSM MTMR3 HORMAD2-AS1 ASCC2 SELENOM SF3A1 SLC35E4 MTFP1 DUSP18 CCDC157
GH22H029820 1.6 Ensembl ENCODE dbSUPER 15 +16.5 16548 2 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 SF3A1 PES1 ASCC2 EWSR1 TBC1D10A LOC91370 RHBDD3 SEC14L6 UQCR10
GH22H029837 1.3 ENCODE dbSUPER 17.1 -0.1 -65 1 HDGF PKNOX1 ATF1 MLX ARID4B SIN3A DMAP1 YY1 ETS1 ZNF121 MTMR3 ASCC2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASCC2 on UCSC Golden Path with GeneCards custom track

Promoters for ASCC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000145122 104 1201 HDGF PKNOX1 ATF1 MLX ARID4B SIN3A DMAP1 YY1 ETS1 ZNF121

Genomic Location for ASCC2 Gene

Chromosome:
22
Start:
29,788,608 bp from pter
End:
29,838,304 bp from pter
Size:
49,697 bases
Orientation:
Minus strand

Genomic View for ASCC2 Gene

Genes around ASCC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASCC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASCC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASCC2 Gene

Proteins for ASCC2 Gene

  • Protein details for ASCC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1I8-ASCC2_HUMAN
    Recommended name:
    Activating signal cointegrator 1 complex subunit 2
    Protein Accession:
    Q9H1I8
    Secondary Accessions:
    • B7Z8E0
    • F5H6J9
    • Q4TT54
    • Q8TAZ0
    • Q9H711
    • Q9H9D6

    Protein attributes for ASCC2 Gene

    Size:
    757 amino acids
    Molecular mass:
    86360 Da
    Quaternary structure:
    • Part of the ASC-1 complex, that contains TRIP4, ASCC1, ASCC2 and ASCC3. The ASC-1 complex interacts with ALKBH3. Interacts with CSRP1.
    SequenceCaution:
    • Sequence=BAB15089.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ASCC2 Gene

    Alternative splice isoforms for ASCC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASCC2 Gene

Post-translational modifications for ASCC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ASCC2 Gene

Domains & Families for ASCC2 Gene

Gene Families for ASCC2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ASCC2 Gene

Suggested Antigen Peptide Sequences for ASCC2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H1I8

UniProtKB/Swiss-Prot:

ASCC2_HUMAN :
  • Belongs to the ASCC2 family.
Family:
  • Belongs to the ASCC2 family.
genes like me logo Genes that share domains with ASCC2: view

Function for ASCC2 Gene

Molecular function for ASCC2 Gene

UniProtKB/Swiss-Prot Function:
Enhances NF-kappa-B, SRF and AP1 transactivation.

Phenotypes From GWAS Catalog for ASCC2 Gene

genes like me logo Genes that share phenotypes with ASCC2: view

Animal Models for ASCC2 Gene

MGI Knock Outs for ASCC2:

Animal Model Products

CRISPR Products

miRNA for ASCC2 Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ASCC2 Gene

Localization for ASCC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASCC2 Gene

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 ASCC2 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Focal adhesion sites (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ASCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 12077347
GO:0005654 nucleoplasm TAS --
GO:0099053 activating signal cointegrator 1 complex IDA 12077347
genes like me logo Genes that share ontologies with ASCC2: view

Pathways & Interactions for ASCC2 Gene

genes like me logo Genes that share pathways with ASCC2: view

Gene Ontology (GO) - Biological Process for ASCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006307 DNA dealkylation involved in DNA repair TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IDA,IEA 12077347
genes like me logo Genes that share ontologies with ASCC2: view

No data available for SIGNOR curated interactions for ASCC2 Gene

Drugs & Compounds for ASCC2 Gene

No Compound Related Data Available

Transcripts for ASCC2 Gene

Unigene Clusters for ASCC2 Gene

Activating signal cointegrator 1 complex subunit 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASCC2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^
SP1: - - - -
SP2: -
SP3:
SP4: - - -
SP5: - -
SP6: - - - - -
SP7: - - - - - - -
SP8:
SP9:
SP10: - - - -
SP11: - -
SP12: - - - - - - - -
SP13: - - -
SP14: - - - -
SP15: - - - - - -
SP16: - - - - -
SP17: -
SP18: - - - -
SP19:
SP20: - - -
SP21:
SP22: - - -

ExUns: 15 ^ 16 ^ 17a · 17b ^ 18a · 18b · 18c ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c ^ 23 ^ 24a · 24b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9: -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19: -
SP20:
SP21:
SP22:

Relevant External Links for ASCC2 Gene

GeneLoc Exon Structure for
ASCC2
ECgene alternative splicing isoforms for
ASCC2

Expression for ASCC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASCC2 Gene

mRNA differential expression in normal tissues according to GTEx for ASCC2 Gene

This gene is overexpressed in Whole Blood (x5.1).

Protein differential expression in normal tissues from HIPED for ASCC2 Gene

This gene is overexpressed in Lung (15.8), Pancreas (10.3), and Heart (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ASCC2 Gene



Protein tissue co-expression partners for ASCC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ASCC2 Gene:

ASCC2

SOURCE GeneReport for Unigene cluster for ASCC2 Gene:

Hs.731754

mRNA Expression by UniProt/SwissProt for ASCC2 Gene:

Q9H1I8-ASCC2_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ASCC2 Gene

  • Intestine(4.4)
  • Liver(4.3)
  • Skin(4.3)
  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with ASCC2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASCC2 Gene

Orthologs for ASCC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASCC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASCC2 34 33
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ASCC2 34 33
  • 90.44 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ascc2 33
  • 87.17 (n)
cow
(Bos Taurus)
Mammalia ASCC2 34 33
  • 87.1 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ascc2 16 34 33
  • 86.99 (n)
oppossum
(Monodelphis domestica)
Mammalia ASCC2 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASCC2 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASCC2 34 33
  • 73.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASCC2 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ascc2 33
  • 63.26 (n)
Str.10308 33
African clawed frog
(Xenopus laevis)
Amphibia asc1p100-prov 33
zebrafish
(Danio rerio)
Actinopterygii ascc2 34 33
  • 59.82 (n)
OneToOne
zgc63666 33
fruit fly
(Drosophila melanogaster)
Insecta CG2701 33 34
  • 46.68 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000428 33
  • 45.03 (n)
Species where no ortholog for ASCC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 ASCC2 Gene

ENSEMBL:
Gene Tree for ASCC2 (if available)
TreeFam:
Gene Tree for ASCC2 (if available)

Paralogs for ASCC2 Gene

(1) SIMAP similar genes for ASCC2 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with ASCC2: view

No data available for Paralogs for ASCC2 Gene

Variants for ASCC2 Gene

Sequence variations from dbSNP and Humsavar for ASCC2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1000048199 -- 29,800,075(+) GCCGC(A/T)GCACC intron-variant
rs1000100839 -- 29,820,723(+) TGAGG(G/T)CGGGA intron-variant
rs1000125615 -- 29,819,392(+) CCTGA(C/G)CTCAG intron-variant
rs1000135172 -- 29,798,481(+) ACCAC(A/G/T)AAGTG intron-variant
rs1000196544 -- 29,824,050(+) TAGCC(A/G)GGTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ASCC2 Gene

Variant ID Type Subtype PubMed ID
esv2067033 CNV deletion 18987734
esv2724130 CNV deletion 23290073
esv2724131 CNV deletion 23290073
esv2724132 CNV deletion 23290073
esv2740727 CNV deletion 23290073
nsv1110864 OTHER inversion 24896259
nsv1116951 CNV deletion 24896259
nsv1127915 CNV deletion 24896259
nsv1127916 CNV deletion 24896259
nsv1142580 CNV deletion 24896259
nsv3590 CNV insertion 18451855

Variation tolerance for ASCC2 Gene

Residual Variation Intolerance Score: 61.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.14; 92.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ASCC2 Gene

Human Gene Mutation Database (HGMD)
ASCC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASCC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASCC2 Gene

Disorders for ASCC2 Gene

Relevant External Links for ASCC2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ASCC2

No disorders were found for ASCC2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ASCC2 Gene

Publications for ASCC2 Gene

  1. Novel transcription coactivator complex containing activating signal cointegrator 1. (PMID: 12077347) Jung DJ … Lee YC (Molecular and cellular biology 2002) 2 3 4 60
  2. Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. (PMID: 26924529) Knierim E … Schuelke M (American journal of human genetics 2016) 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4 60

Products for ASCC2 Gene

Sources for ASCC2 Gene

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