• Gene id: 23172

Gene Summary

• Gene Symbol: ABRAXAS2   Gene   UCSC   Ensembl
• Aliases: ABRO1, FAM175B, KIAA0157
• Gene name: abraxas 2, BRISC complex subunit
• Alternate names: BRISC complex subunit Abraxas 2, BRISC complex subunit Abro1, abraxas brother 1, abraxas brother protein 1, family with sequence similarity 175 member B,
• Gene location: 10q26.13 (124801802: 124836669)     Exons: 9     NC_000010.11
• OMIM: 611144

Protein Summary

• Protein general information: Q15018  
  • Name: BRISC complex subunit Abraxas 2 (Abraxas brother protein 1) (Protein FAM175B)
  • Length: 415  
  • Mass: 46901
  • Tissue specificity: Detected in heart muscle (at protein level). Detected in heart and muscle, and at much lower levels in brain (PubMed
• Sequence:

  MAASISGYTFSAVCFHSANSNADHEGFLLGEVRQEETFSISDSQISNTEFLQVIEIHNHQPCSKLFSFYDYASKV
  NEESLDRILKDRRKKVIGWYRFRRNTQQQMSYREQVLHKQLTRILGVPDLVFLLFSFISTANNSTHALEYVLFRP
  NRRYNQRISLAIPNLGNTSQQEYKVSSVPNTSQSYAKVIKEHGTDFFDKDGVMKDIRAIYQVYNALQEKVQAVCA
  DVEKSERVVESCQAEVNKLRRQITQRKNEKEQERRLQQAVLSRQMPSESLDPAFSPRMPSSGFAAEGRSTLGDAE
  ASDPPPPYSDFHPNNQESTLSHSRMERSVFMPRPQAVGSSNYASTSAGLKYPGSGADLPPPQRAAGDSGEDSDDS
  DYENLIDPTEPSNSEYSHSKDSRPMAHPDEDPRNTQTSQI

• Structural information:
  • Protein Domains: (3..14-)
    (/note="MPN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01182"-)
  • Interpro: IPR023238  IPR023240  IPR037518  
  • Prosite: PS50249
  • PDB: 6H3C 6R8F
  • PDBsum: 6H3C 6R8F
  • STRING: ENSP00000298492
• Other Databases: GeneCards:  ABRAXAS2  Malacards:  ABRAXAS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0008608	attachment of spindle microtubules to kinetochore	IBA	biological process
GO:0008017	microtubule binding	IBA	molecular function
GO:0031593	polyubiquitin modification-dependent protein binding	IBA	molecular function
GO:0070536	protein K63-linked deubiquitination	IBA	biological process
GO:0090307	mitotic spindle assembly	IBA	biological process
GO:0031593	polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0070552	BRISC complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0008017	microtubule binding	IDA	molecular function
GO:0005813	centrosome	IDA	colocalizes with
GO:0031616	spindle pole centrosome	IDA	colocalizes with
GO:0036449	microtubule minus-end	IDA	colocalizes with
GO:0030496	midbody	IDA	colocalizes with
GO:0070552	BRISC complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0002931	response to ischemia	IMP	biological process
GO:0070536	protein K63-linked deubiquitination	IMP	biological process
GO:0000278	mitotic cell cycle	IMP	biological process
GO:0090307	mitotic spindle assembly	IMP	biological process
GO:0070536	protein K63-linked deubiquitination	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0008608	attachment of spindle microtubules to kinetochore	IMP	biological process
GO:0007059	chromosome segregation	IMP	biological process
GO:0051301	cell division	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0016579	protein deubiquitination	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0000922	spindle pole	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq