ABRAXAS2 (abraxas 2, BRISC complex subunit)

Gene

• Entrez ID: 23172
• Gene name: Abraxas 2, BRISC complex subunit
• Gene symbol: ABRAXAS2
• Synonyms (NCBI Gene): ABRO1, FAM175B, KIAA0157
• Chromosome: 10
• Chromosome location: 10q26.13

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT658432	hsa-miR-186-5p	HITS-CLIP	23824327
MIRT658431	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT658430	hsa-miR-5695	HITS-CLIP	23824327
MIRT261845	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT658429	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT658428	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT658427	hsa-miR-629-3p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000278	Process	Mitotic cell cycle	IMP	26195665
GO:0000922	Component	Spindle pole	IEA
GO:0002931	Process	Response to ischemia	IMP	21195082
GO:0005515	Function	Protein binding	IPI	19615732, 26195665, 32296183, 33961781, 37398436
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	21195082, 24075985
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	26195665
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0007059	Process	Chromosome segregation	IMP	26195665
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IDA	26195665
GO:0008608	Process	Attachment of spindle microtubules to kinetochore	IBA
GO:0008608	Process	Attachment of spindle microtubules to kinetochore	IMP	26195665
GO:0030496	Component	Midbody	IDA	26195665
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IBA
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IDA	19261749
GO:0031616	Component	Spindle pole centrosome	IDA	26195665
GO:0036064	Component	Ciliary basal body	IDA
GO:0036449	Component	Microtubule minus-end	IDA	26195665
GO:0051301	Process	Cell division	IEA
GO:0070536	Process	Protein K63-linked deubiquitination	IMP	24075985, 26195665
GO:0070552	Component	BRISC complex	IDA	19214193, 24075985
GO:0090307	Process	Mitotic spindle assembly	IBA
GO:0090307	Process	Mitotic spindle assembly	IMP	26195665

Other IDs

• MIM: 611144
• HGNC: 28975
• e!Ensembl: ENSG00000165660

Protein

• UniProt ID: Q15018
• Protein name: BRISC complex subunit Abraxas 2 (Abraxas brother protein 1) (Protein FAM175B)
• Protein function: Component of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked polyubiquitin, leaving the last ubiquitin chain attached to its substrates (PubMed:19214193, PubMed:20032457, PubMed:20656690, PubMed:24075985). May
• PDB: 6H3C, 6R8F, 8PVY, 8PY2
• Tissue specificity: TISSUE SPECIFICITY: Detected in heart muscle (at protein level). Detected in heart and muscle, and at much lower levels in brain (PubMed:21195082). {ECO:0000269|PubMed:21195082}.
• Sequence:

  MAASISGYTFSAVCFHSANSNADHEGFLLGEVRQEETFSISDSQISNTEFLQVIEIHNHQ
  PCSKLFSFYDYASKVNEESLDRILKDRRKKVIGWYRFRRNTQQQMSYREQVLHKQLTRIL
  GVPDLVFLLFSFISTANNSTHALEYVLFRPNRRYNQRISLAIPNLGNTSQQEYKVSSVPN
  TSQSYAKVIKEHGTDFFDKDGVMKDIRAIYQVYNALQEKVQAVCADVEKSERVVESCQAE
  VNKLRRQITQRKNEKEQERRLQQAVLSRQMPSESLDPAFSPRMPSSGFAAEGRSTLGDAE
  ASDPPPPYSDFHPNNQESTLSHSRMERSVFMPRPQAVGSSNYASTSAGLKYPGSGADLPP
  PQRAAGDSGEDSDDSDYENLIDPTEPSNSEYSHSKDSRPMAHPDEDPRNTQTSQI

• Sequence length: 415

Pathways

Reactome:

Metalloprotease DUBs

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
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	25283148	Inhibit	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	21195082		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21195082		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	21195082		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	30854784	Inhibit	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	30854784	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30854784		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	21195082		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	21195082		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30787184		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30854784		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	30787184		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	30854784	Inhibit	★☆☆☆☆ Found in Text Mining only