ASCC2 Gene (Protein Coding)

Activating Signal Cointegrator 1 Complex Subunit 2

GC22M029788
GIFtS:
36
See more...

Aliases for ASCC2 Gene

Aliases for ASCC2 Gene

  • Activating Signal Cointegrator 1 Complex Subunit 2 2 3 4 5
  • ASC-1 Complex Subunit P100 3 4
  • Trip4 Complex Subunit P100 3 4
  • ASC1p100 2 3
  • ASC 1 Complex Subunit P100 2
  • DKFZp586O0223 2
  • FLJ21588 2
  • ASC1P100 4
  • ASCC2 5
  • 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 Summary for ASCC2 Gene

  • Plays a role in DNA damage repair as component of the ASCC complex. Recruits ASCC3 and ALKBH3 to sites of DNA damage by binding to polyubiquitinated proteins that have 'Lys-63'-linked polyubiquitin chains (PubMed:29144457). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347).

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 , Rfam classification and piRNA Summary for ASCC2 Gene

Genomics for ASCC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ASCC2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASCC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASCC2

Top Transcription factor binding sites by QIAGEN in the ASCC2 gene promoter:
  • AhR
  • AREB6
  • Arnt
  • GATA-1
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • PPAR-alpha

Genomic Locations for ASCC2 Gene

Latest Assembly
chr22:29,788,608-29,838,304
(GRCh38/hg38)
Size:
49,697 bases
Orientation:
Minus strand

Previous Assembly
chr22:30,184,600-30,234,263
(GRCh37/hg19 by Entrez Gene)
Size:
49,664 bases
Orientation:
Minus strand

chr22:30,184,597-30,234,271
(GRCh37/hg19 by Ensembl)
Size:
49,675 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 Structure • Gene Density

RefSeq DNA sequence for ASCC2 Gene

Proteins for ASCC2 Gene

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  • 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:
    • Identified in the ASCC complex that contains ASCC1, ASCC2 and ASCC3 (PubMed:29144457, PubMed:29997253). Interacts directly with ASCC3 (PubMed:29997253). The ASCC complex interacts with ALKBH3 (PubMed:29144457, PubMed:22055184). Interacts (via CUE domain) with 'Lys-63'-linked polyubiquitin chains, but not with 'Lys-48'-linked polyubiquitin chains (PubMed:29144457). Part of the ASC-1 complex, that contains TRIP4, ASCC1, ASCC2 and ASCC3 (PubMed:12077347). Interacts with CSRP1 (PubMed:26924529). Interacts with PRPF8, a component of the spliceosome (PubMed:29144457). Interacts with ZCCHC4 (PubMed:31799605).
    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

Protein Expression for ASCC2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ASCC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASCC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ASCC2 Gene

Domains & Families for ASCC2 Gene

Gene Families for ASCC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ASCC2 Gene

InterPro:
Blocks:
  • Ubiquitin system component Cue
ProtoNet:

Suggested Antigen Peptide Sequences for ASCC2 Gene

GenScript: Design optimal peptide antigens:
  • Trip4 complex subunit p100 (ASCC2_HUMAN)
  • Activating signal cointegrator 1 complex subunit 2 variant (Q53G98_HUMAN)

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

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  1. Animal Models for research
  2. CRISPR products for research
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  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for ASCC2 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in DNA damage repair as component of the ASCC complex. Recruits ASCC3 and ALKBH3 to sites of DNA damage by binding to polyubiquitinated proteins that have 'Lys-63'-linked polyubiquitin chains (PubMed:29144457). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347).

Phenotypes From GWAS Catalog for ASCC2 Gene

Gene Ontology (GO) - Molecular Function for ASCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0043130 ubiquitin binding IBA 21873635
genes like me logo Genes that share ontologies with ASCC2: view
genes like me logo Genes that share phenotypes with ASCC2: view

Animal Models for ASCC2 Gene

MGI Knock Outs for ASCC2:
  • Ascc2 Ascc2<tm1a(EUCOMM)Wtsi>
  • Ascc2 Ascc2<tm1b(EUCOMM)Wtsi>

Animal Models for research

miRNA for ASCC2 Gene

miRTarBase miRNAs that target ASCC2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASCC2

No data available for Enzyme Numbers (IUBMB) , 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

Nucleus. Nucleus speckle. Note=Colocalizes with the spliceosomal components PRPF8 and SNRNP200/BRR2 in nuclear foci when cells have been exposed to alkylating agents that cause DNA damage. Colocalizes with RNF113A and 'Lys-63'-linked polyubiquitinated proteins, ALKBH3 and ASCC3 in nuclear foci when cells have been exposed to alkylating agents that cause DNA damage. {ECO:0000269 PubMed:29144457}.

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
cytoskeleton 1
mitochondrion 1
extracellular 0
peroxisome 0
golgi apparatus 0

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ASCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 12077347
GO:0005654 nucleoplasm TAS --
GO:0016607 nuclear speck IEA --
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:0006281 DNA repair IEA --
GO:0006307 DNA dealkylation involved in DNA repair TAS --
GO:0006355 regulation of transcription, DNA-templated IBA,IDA 12077347
GO:0006974 cellular response to DNA damage stimulus IEA --
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

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No Compound Related Data Available

Transcripts for ASCC2 Gene

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mRNA/cDNA for ASCC2 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASCC2

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

Expression for ASCC2 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for ASCC2 Gene
mRNA expression by GTEx for ASCC2 GenemRNA expression by BioGPS 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

  • Skin(4.4)
  • Intestine(4.4)
  • Liver(4.4)
  • Nervous system(3.1)
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 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 30 31
  • 99.56 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ASCC2 30 31
  • 90.44 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ascc2 30
  • 87.17 (n)
Cow
(Bos Taurus)
 Mammalia ASCC2 30 31
  • 87.1 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Ascc2 30 17 31
  • 86.99 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ASCC2 31
  • 75 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ASCC2 31
  • 74 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ASCC2 30 31
  • 73.22 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ASCC2 31
  • 52 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ascc2 30
  • 63.26 (n)
Str.10308 30
African clawed frog
(Xenopus laevis)
 Amphibia asc1p100-prov 30
Zebrafish
(Danio rerio)
 Actinopterygii ascc2 30 31
  • 59.82 (n)
 OneToOne
zgc63666 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG2701 30 31
  • 46.68 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000428 30
  • 45.03 (n)
Species where no ortholog for ASCC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ASCC2: view image

Paralogs for ASCC2 Gene

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

  • ASCC2_HUMAN
  • B1AH59_HUMAN
  • B1AH60_HUMAN
  • F2Z2W4_HUMAN
  • F8WAQ6_HUMAN
  • H7C395_HUMAN
  • H7C3Y4_HUMAN
  • Q53G98_HUMAN
genes like me logo Genes that share paralogs with ASCC2: view

No data available for Paralogs for ASCC2 Gene

Variants for ASCC2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASCC2 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs11549795 - p.Val123Ile
rs1894473 - p.Arg96Cys
rs28265 - p.Asp407His
rs34062345 - p.Glu588Lys
rs34833047 - p.Asp546Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ASCC2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for ASCC2 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for ASCC2 Gene

Additional Disease Information for ASCC2

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

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
  2. RNA ligase-like domain in activating signal cointegrator 1 complex subunit 1 (ASCC1) regulates ASCC complex function during alkylation damage. (PMID: 29997253) Soll JM … Mosammaparast N (The Journal of biological chemistry 2018) 3 4
  3. 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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. 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

ExternalLinks

View latest publications for ASCC2 gene in Mastermind

Products for ASCC2 Gene

Sources for ASCC2 Gene