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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

No data available for Entrez Gene 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
GH22F030190 1.8 FANTOM5 Ensembl ENCODE 12.1 -356.8 -356810 9.4 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 FEZF1 ZNF2 OSM MTMR3 MGC20647 MORC2 TUG1 HORMAD2-AS1 ASCC2 THOC5 SELENOM SF3A1
GH22F030181 1.4 FANTOM5 Ensembl ENCODE 15.3 -345.4 -345424 4.3 HDAC1 PKNOX1 TBL1XR1 GATA2 KLF16 SMARCA4 PBX2 IKZF1 HMBOX1 ZNF24 LIF ASCC2 HORMAD2-AS1 LOC105372988 ENSG00000232530 MTMR3 DUSP18 OSM SF3A1 RPS3AP51
GH22F029778 1.3 Ensembl ENCODE 16.4 +57.6 57583 4.6 PKNOX1 ARNT ARID4B SIN3A CBX5 GATA2 FOS NCOA1 REST KAT8 ASCC2 HORMAD2-AS1 RNU5F-5P UQCR10
GH22F029820 1.4 Ensembl ENCODE 15 +16.5 16548 2.4 PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 MGC20647 ASCC2 THOC5 SEC14L6 UQCR10
GH22F029870 1.1 Ensembl ENCODE 18.8 -33.5 -33537 3.5 ATF1 PKNOX1 FEZF1 GLIS2 ZNF143 CREM ZNF263 SMARCA5 CEBPB TSHZ1 ASCC2 HORMAD2-AS1 RNU5F-5P MTMR3
- 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
ENSR00000616758 104 1601 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ETS1 YY1

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

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 :
  • Contains 1 CUE domain.
  • Belongs to the ASCC2 family.
Domain:
  • Contains 1 CUE domain.
Family:
  • Belongs to the ASCC2 family.
genes like me logo Genes that share domains with ASCC2: view

No data available for Gene Families for ASCC2 Gene

Function for ASCC2 Gene

Molecular function for ASCC2 Gene

UniProtKB/Swiss-Prot Function:
Enhances NF-kappa-B, SRF and AP1 transactivation.
genes like me logo Genes that share phenotypes with ASCC2: view

Animal Models for ASCC2 Gene

MGI Knock Outs for ASCC2:

Animal Model Products

miRNA for ASCC2 Gene

Inhibitory RNA Products

Flow Cytometry 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

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 IEA,IDA 12077347
genes like me logo Genes that share ontologies with ASCC2: view

No data available for SIGNOR curated interactions for ASCC2 Gene

Transcripts for ASCC2 Gene

Unigene Clusters for ASCC2 Gene

Activating signal cointegrator 1 complex subunit 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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, 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.
genes like me logo Genes that share expression patterns with ASCC2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 35
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia ASCC2 34 35
  • 90.44 (n)
rat
(Rattus norvegicus)
Mammalia Ascc2 34
  • 87.17 (n)
cow
(Bos Taurus)
Mammalia ASCC2 34 35
  • 87.1 (n)
mouse
(Mus musculus)
Mammalia Ascc2 34 16 35
  • 86.99 (n)
oppossum
(Monodelphis domestica)
Mammalia ASCC2 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASCC2 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ASCC2 34 35
  • 73.22 (n)
lizard
(Anolis carolinensis)
Reptilia ASCC2 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ascc2 34
  • 63.26 (n)
Str.10308 34
African clawed frog
(Xenopus laevis)
Amphibia asc1p100-prov 34
zebrafish
(Danio rerio)
Actinopterygii ascc2 34 35
  • 59.82 (n)
zgc63666 34
fruit fly
(Drosophila melanogaster)
Insecta CG2701 34 35
  • 46.68 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000428 34
  • 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
rs1048001 -- 29,788,809(-) CCACA(G/T)CCGAA utr-variant-3-prime
rs10559800 -- 29,838,204(+) CCGCC(-/GCC)GACCA cds-indel
rs1071962 -- 29,828,152(+) AAGCA(A/G)ACTTC intron-variant
rs1076137 -- 29,828,002(+) TCCCT(A/G)CAATC intron-variant
rs11090582 -- 29,832,617(+) AGTCT(C/T)GATCT intron-variant, utr-variant-5-prime

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

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 D.-J. … Lee Y.C. (Mol. Cell. Biol. 2002) 2 3 4 64
  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. (Am. J. Hum. Genet. 2016) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 3 4 64

Products for ASCC2 Gene

Sources for ASCC2 Gene

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