ASCC2 (activating signal cointegrator 1 complex subunit 2)

Gene

• Entrez ID: 84164
• Gene name: Activating signal cointegrator 1 complex subunit 2
• Gene symbol: ASCC2
• Synonyms (NCBI Gene): ASC1p100, p100
• Chromosome: 22
• Chromosome location: 22q12.2

miRNA

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
MIRT1936988	hsa-miR-1275	CLIP-seq
MIRT1936989	hsa-miR-18a	CLIP-seq
MIRT1936990	hsa-miR-18b	CLIP-seq
MIRT1936991	hsa-miR-3124-3p	CLIP-seq
MIRT1936992	hsa-miR-3688-5p	CLIP-seq
MIRT1936993	hsa-miR-4271	CLIP-seq
MIRT1936994	hsa-miR-4320	CLIP-seq
MIRT1936995	hsa-miR-4327	CLIP-seq
MIRT1936996	hsa-miR-4525	CLIP-seq
MIRT1936997	hsa-miR-4665-5p	CLIP-seq
MIRT1936998	hsa-miR-4723-5p	CLIP-seq
MIRT1936999	hsa-miR-4725-3p	CLIP-seq
MIRT1937000	hsa-miR-4731-5p	CLIP-seq
MIRT1937001	hsa-miR-4735-3p	CLIP-seq
MIRT1937002	hsa-miR-4747-5p	CLIP-seq
MIRT1937003	hsa-miR-4753-3p	CLIP-seq
MIRT1937004	hsa-miR-4758-3p	CLIP-seq
MIRT1937005	hsa-miR-4763-5p	CLIP-seq
MIRT1937006	hsa-miR-550a	CLIP-seq
MIRT1937007	hsa-miR-625	CLIP-seq
MIRT1937008	hsa-miR-637	CLIP-seq
MIRT2176772	hsa-miR-198	CLIP-seq
MIRT2176773	hsa-miR-3074-5p	CLIP-seq
MIRT2176774	hsa-miR-370	CLIP-seq
MIRT1936993	hsa-miR-4271	CLIP-seq
MIRT2176775	hsa-miR-431	CLIP-seq
MIRT2176776	hsa-miR-4685-5p	CLIP-seq
MIRT2176777	hsa-miR-4711-3p	CLIP-seq
MIRT1936999	hsa-miR-4725-3p	CLIP-seq
MIRT2176778	hsa-miR-4795-5p	CLIP-seq
MIRT2176779	hsa-miR-581	CLIP-seq
MIRT2176780	hsa-miR-626	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28514442, 29997253, 32296183, 33961781
GO:0005634	Component	Nucleus	IDA	12077347, 26924529, 29997253
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006260	Process	DNA replication	NAS	29997253
GO:0006281	Process	DNA repair	IEA
GO:0006307	Process	DNA alkylation repair	NAS	29997253
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	12077347
GO:0006974	Process	DNA damage response	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0022626	Component	Cytosolic ribosome	IDA	36302773
GO:0032790	Process	Ribosome disassembly	IDA	32579943, 36302773
GO:0032790	Process	Ribosome disassembly	NAS	32099016
GO:0043130	Function	Ubiquitin binding	IBA
GO:0043130	Function	Ubiquitin binding	IEA
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IDA	36302773
GO:0072344	Process	Rescue of stalled ribosome	IDA	32579943, 36302773
GO:0072344	Process	Rescue of stalled ribosome	IMP	32099016
GO:0180022	Component	RQC-trigger complex	IDA	12077347
GO:1990116	Process	Ribosome-associated ubiquitin-dependent protein catabolic process	IMP	32099016
GO:1990116	Process	Ribosome-associated ubiquitin-dependent protein catabolic process	NAS	32099016
GO:1990391	Component	DNA repair complex	IPI	29997253

Other IDs

• MIM: 614216
• HGNC: 24103
• e!Ensembl: 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
  DLGEGFILACLEYYHYDPEQVINNILEERLAPTLSQLDRNLDREMKPDPTPLLTSRHNVF
  QNDEFDVFSRDSVDLSRVHKGKSTRKEENTRSLLNDKRAVAAQRQRYEQYSVVVEEVPLQ
  PGESLPYHSVYYEDEYDDTYDGNQVGANDADSDDELISRRPFTIPQVLRTKVPREGQEED
  DDDEEDDADEEAPKPDHFVQDPAVLREKAEARRMAFLAKKGYRHDSSTAVAGSPRGHGQS
  RETTQERRKKEANKATRANHNRRTMADRKRSKGMIPS

• Sequence length: 757

Pathways

Reactome:

ALKBH3 mediated reversal of alkylation damage

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	8289813		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30415249		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30415249		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	27890468		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	27890468		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	29981961		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases	Bone Disease	BEFREE	19770515		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28190248, 9681829		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29159900		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27955827		★☆☆☆☆ Found in Text Mining only
Color blindness	Color Blindness	BEFREE	10447644		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	33686958	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28392940		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28392940		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30116745		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	29632382		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	20889926, 28368397		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	30138396		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	8289813		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	10713675		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	10713675		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28190248, 9681829		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29159900		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26112410		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17909068		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28190248		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	10713675, 23211527, 28789366		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30506120, 31172825		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19351823, 29159900		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	31796527		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	29618326		★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	BEFREE	30506120, 31796527		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	19770515		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	31284588		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	19770515		★☆☆☆☆ Found in Text Mining only