Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	23172
Gene name	Abraxas 2, BRISC complex subunit
Gene symbol	ABRAXAS2
Synonyms (NCBI Gene)	ABRO1FAM175BKIAA0157
Chromosome	10
Chromosome location	10q26.13

7 Show/Hide all (7)

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

29 Show/Hide all (29)

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

MIM	HGNC	e!Ensembl
611144	28975	ENSG00000165660

Protein Protein information from UniProt database. Download as csv Download as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.	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
Family and domains
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
Interactions	View interactions

Reactome Pathway
Metalloprotease DUBs

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	39998322	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	37386247	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	40205036	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	40205036	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (13)
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

Related Genes Genes most often co-reported with ABRAXAS2 across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for ABRAXAS2.

Diseases Linked via Similar Genes Diseases curated for genes most similar to ABRAXAS2 (see Related Genes above), that are NOT already directly curated for ABRAXAS2 itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to ABRAXAS2.

ABRAXAS2 (abraxas 2, BRISC complex subunit)

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