• Gene id: 54769

Gene Summary

• Gene Symbol: DIRAS2   Gene   UCSC   Ensembl
• Aliases: Di-Ras2
• Gene name: DIRAS family GTPase 2
• Alternate names: GTP-binding protein Di-Ras2, DIRAS family, GTP-binding RAS-like 2, distinct subgroup of the Ras family member 2,
• Gene location: 9q22.2 (90642823: 90609831)     Exons: 2     NC_000009.12
• Gene summary(Entrez): DIRAS2 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004]
• OMIM: 607863

Protein Summary

• Protein general information: Q96HU8  
  • Name: GTP binding protein Di Ras2 (Distinct subgroup of the Ras family member 2)
  • Length: 199  
  • Mass: 22485
  • Tissue specificity: Highly expressed in brain. {ECO
• Sequence:

  MPEQSNDYRVAVFGAGGVGKSSLVLRFVKGTFRESYIPTVEDTYRQVISCDKSICTLQITDTTGSHQFPAMQRLS
  ISKGHAFILVYSITSRQSLEELKPIYEQICEIKGDVESIPIMLVGNKCDESPSREVQSSEAEALARTWKCAFMET
  SAKLNHNVKELFQELLNLEKRRTVSLQIDGKKSKQQKRKEKLKGKCVIM

• Structural information:
  • Interpro: IPR027417  IPR005225  IPR001806  IPR020849  
  • Prosite: PS51421
  • PDB: 2ERX 6NAZ
  • PDBsum: 2ERX 6NAZ
  • STRING: ENSP00000364919
• Other Databases: GeneCards:  DIRAS2  Malacards:  DIRAS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003924	GTPase activity	IBA	molecular function
GO:0005525	GTP binding	IBA	molecular function
GO:0019003	GDP binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0043406	positive regulation of MAP kinase activity	IDA	NOT|biological process
GO:0005525	GTP binding	IDA	molecular function

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R