Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84164
Gene name Gene Name - the full gene name approved by the HGNC.
Activating signal cointegrator 1 complex subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ASCC2
Synonyms (NCBI Gene) Gene synonyms aliases
ASC1p100, p100
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.2
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022446 hsa-miR-124-3p Microarray 18668037
MIRT050191 hsa-miR-26a-5p CLASH 23622248
MIRT044724 hsa-miR-320a CLASH 23622248
MIRT042189 hsa-miR-484 CLASH 23622248
MIRT1936987 hsa-miR-1207-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IDA 12077347, 26924529
GO:0005654 Component Nucleoplasm TAS
GO:0006307 Process DNA dealkylation involved in DNA repair TAS
GO:0006355 Process Regulation of transcription, DNA-templated IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614216 24103 ENSG00000100325
Protein
UniProt ID Q9H1I8
Protein name Activating signal cointegrator 1 complex subunit 2 (ASC-1 complex subunit p100) (Trip4 complex subunit p100)
Protein function Ubiquitin-binding protein involved in DNA repair and rescue of stalled ribosomes (PubMed:29144457, PubMed:32099016, PubMed:32579943, PubMed:36302773). Plays a role in DNA damage repair as component of the ASCC complex (PubMed:29144457). Recruits
PDB 2DI0 , 6YXQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02845 CUE 468 509 CUE domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12077347}.
Sequence
MPALPLDQLQITHKDPKTGKLRTSPALHPEQKADRYFVLYKPPPKDNIPALVEEYLERAT
FVANDLDWLLALPHDKFWCQVIFDETLQKCLDSYLRYVPRKFDEGVASAPEVVDMQKRLH
RSVFLTFLRMSTHKESKDHFISPSAFGEILYNNFLFDIPKILDLCVLFGKGNSPLLQKMI
GNIFTQQPSYYSDLDETLPTILQVFSNILQHCGLQGDGANTTPQKLEERGRLTPSDMPLL
ELKDIVLYLCDTCTTLWAFLDIFPLACQTFQKHDFCYRLASFYEAAIPEMESAIKKRRLE
DSKLLGDLWQRLSHSRKKLMEIFHIILNQICLLPILESSCDNIQGFIEEFLQIFSSLLQE
KRFLRDYDALFPVAEDISLLQQASSVLDETRTAYILQAVESAWEGVDRRKATDAKDPSVI
EEPNGEPNGVTVTAEAVSQASSHPENSEEEECMGAAAAVGPAMCGVELDSLISQVKDLLP
DLGEGFILACLEYYHYDPEQVINNILEER
LAPTLSQLDRNLDREMKPDPTPLLTSRHNVF
QNDEFDVFSRDSVDLSRVHKGKSTRKEENTRSLLNDKRAVAAQRQRYEQYSVVVEEVPLQ
PGESLPYHSVYYEDEYDDTYDGNQVGANDADSDDELISRRPFTIPQVLRTKVPREGQEED
DDDEEDDADEEAPKPDHFVQDPAVLREKAEARRMAFLAKKGYRHDSSTAVAGSPRGHGQS
RETTQERRKKEANKATRANHNRRTMADRKRSKGMIPS
Sequence length 757
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    ALKBH3 mediated reversal of alkylation damage
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019 27890468
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
29632382
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Inflammatory Bowel Disease Inflammatory Bowel Disease GWAS
Dental caries Dental caries GWAS
Associations from Text Mining
Disease Name Relationship Type References
Coronary Artery Disease Associate 33686958
Myoepithelioma Associate 36577525
Neoplasms Associate 33139697, 36577525