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Aliases for ASCC2 Gene
Aliases for ASCC2 Gene
External Ids for ASCC2 Gene
- HGNC: 24103
- Entrez Gene: 84164
- Ensembl: ENSG00000100325
- OMIM: 614216
- UniProtKB: Q9H1I8
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).
Additional gene information for ASCC2 Gene
- HGNC(24103)
- Entrez Gene(84164)
- Ensembl(ENSG00000100325)
- OMIM(614216)
- UniProtKB(Q9H1I8)
- Open Targets Platform(ENSG00000100325)
- Monarch Initiative
- Search for ASCC2 at DataMed
- Search for ASCC2 at HumanCyc
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
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
Genomic Locations for ASCC2 Gene
- chr22:29,788,608-29,838,304
- (GRCh38/hg38)
- Size:
- 49,697 bases
- Orientation:
- Minus strand
- chr22:30,184,597-30,234,293
- (GRCh37/hg19)
- 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:
-
- 22q12.2 by HGNC
- 22q12.2 by Entrez Gene
- 22q12.2 by Ensembl
ASCC2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for ASCC2 Gene
Post-translational modifications for ASCC2 Gene
Other Protein References for ASCC2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_011528744.1
- XP_011528745.1
- XP_011528746.1
- XP_011528747.1
- XP_011528750.1
- XP_011528752.1
- XP_011528753.1
- XP_011528754.1
- XP_011528755.1
- XP_011528756.1
- XP_011528757.1
- XP_016884481.1
- XP_016884485.1
- XP_016884487.1
- XP_016884494.1
- XP_024308055.1
- XP_024308056.1
- XP_024308057.1
- XP_024308058.1
- XP_024308059.1
- XP_024308060.1
- NP_001229835.1
- NP_001356849.1
- NP_001356850.1
- NP_001356851.1
- NP_001356852.1
- NP_001356853.1
- NP_001356854.1
- NP_001356855.1
- NP_001356856.1
- NP_001356857.1
- NP_001356858.1
- NP_001356859.1
- NP_001356860.1
- NP_001356861.1
- NP_001356862.1
- NP_001356863.1
- NP_001356864.1
- NP_001356865.1
- NP_001356866.1
- NP_001356867.1
- NP_001356868.1
- NP_001356869.1
- NP_001356870.1
- NP_001356871.1
- NP_001356872.1
- NP_001356873.1
- NP_001356874.1
- NP_001356875.1
- NP_001356876.1
- NP_001356877.1
- NP_001356878.1
- NP_001356879.1
- NP_115580.2
Antibody Products
- Creative Diagnostics Anti-ASCC2 monoclonal antibody, clone FQS0884
- Novus Biologicals Antibodies for ASCC2
-
Abcam antibodies for ASCC2
- Invitrogen Antibodies for ASCC2 (AFLGC-ASCC2)
-
Boster Bio Antibodies for ASCC2
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for ASCC2
- Origene Custom Protein Services for ASCC2
- antibodies-online: Show 5 available ASCC2 Proteins ranked by validation data
- Compare Top ASCC2 Proteins
-
Quality Products:
-
Abcam proteins for ASCC2
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- Family:
-
- Belongs to the ASCC2 family.
Function for ASCC2 Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA | -- |
| GO:0043130 | ubiquitin binding | IBA | 21873635 |
Phenotypes for ASCC2 Gene
- MGI mutant phenotypes for ASCC2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for ASCC2:
Animal Models for ASCC2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ASCC2 - Select products 50% OFF >
- * ASCC2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ASCC2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ASCC2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASCC2
miRNA for ASCC2 Gene
- miRTarBase miRNAs that target ASCC2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ASCC2
- Browse OriGene Inhibitory RNA Products For ASCC2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASCC2
Clone Products
- Applied Biological Materials (abm): Clones for ASCC2 - Select products 50% OFF >
- * ASCC2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ASCC2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ASCC2
Cell Line Products
-
Horizon Cell Lines 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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| extracellular | 0 |
| peroxisome | 0 |
| golgi apparatus | 0 |
- Cytosol (2)
- Focal adhesion sites (2)
- Nucleoplasm (2)
| 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 |
Pathways & Interactions for ASCC2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | DNA Damage Reversal | ||
| 2 | DNA Double-Strand Break Repair |
.53
|
|
Pathways by source for ASCC2 Gene
4 Reactome pathways for ASCC2 Gene
Interacting Proteins for ASCC2 Gene
Selected Interacting proteins:
Q9H1I8-ASCC2_HUMAN
ENSP00000380877
for ASCC2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for ASCC2
| 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 | IDA | 12077347 |
| GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
No data available for SIGNOR curated interactions for ASCC2 Gene
Transcripts for ASCC2 Gene
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 :
-
- ENST00000307790 2790 nts (view in UCSC)
- ENST00000487486 1596 nts (view in UCSC)
- ENST00000472433 536 nts (view in UCSC)
- ENST00000458594 2753 nts (view in UCSC)
- ENST00000397771 2823 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ASCC2 - Select products 50% OFF >
- * ASCC2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ASCC2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ASCC2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASCC2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ASCC2
- Browse OriGene Inhibitory RNA Products For ASCC2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASCC2
Clone Products
- Applied Biological Materials (abm): Clones for ASCC2 - Select products 50% OFF >
- * ASCC2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ASCC2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ASCC2
| 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
mRNA differential expression in normal tissues according to GTEx for ASCC2 Gene
This gene is overexpressed in Whole Blood (x5.1).
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASCC2
SOURCE GeneReport for Unigene cluster for ASCC2 Gene:
Hs.731754mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for ASCC2
-
OriGene qPCR primer pairs and template standards for ASCC2
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ASCC2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ASCC2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ascc2 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | ASCC2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ascc2 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ASCC2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ASCC2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ASCC2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ASCC2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ascc2 30 |
|
||
| Str.10308 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | asc1p100-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ascc2 30 31 |
|
OneToOne | |
| zgc63666 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG2701 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000428 30 |
|
- 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
No data available for Paralogs for ASCC2 Gene
Variants for ASCC2 Gene
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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASCC2 Gene
Disorders for ASCC2 Gene
Additional Disease Information for 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
- Novel transcription coactivator complex containing activating signal cointegrator 1. (PMID: 12077347) Jung DJ … Lee YC (Molecular and cellular biology 2002) 2 3 4
- 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
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 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
ExternalLinks
Products for ASCC2 Gene
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Sources for ASCC2 Gene
- (1) GeneCards
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