• Gene id: 64225

Gene Summary

• Gene Symbol: ATL2   Gene   UCSC   Ensembl
• Aliases: ARL3IP2, ARL6IP2, aip-2, atlastin2
• Gene name: atlastin GTPase 2
• Alternate names: atlastin-2, ADP-ribosylation factor-like protein 6-interacting protein 2, ARL-6-interacting protein 2,
• Gene location: 2p22.2-p22.1 (38378583: 38293953)     Exons: 16     NC_000002.12
• OMIM: 191339

Protein Summary

• Protein general information: Q8NHH9  
  • Name: Atlastin 2 (EC 3.6.5. ) (ADP ribosylation factor like protein 6 interacting protein 2) (ARL 6 interacting protein 2) (Aip 2)
  • Length: 583  
  • Mass: 66229
  • Tissue specificity: Expressed in peripheral tissues (at protein level). {ECO
• Sequence:

  MAEGDEAARGQQPHQGLWRRRRTSDPSAAVNHVSSTTSLGENYEDDDLVNSDEVMKKPCPVQIVLAHEDDHNFEL
  DEEALEQILLQEHIRDLNIVVVSVAGAFRKGKSFLLDFMLRYMYNKDSQSWIGGNNEPLTGFTWRGGCERETTGI
  QVWNEVFVIDRPNGTKVAVLLMDTQGAFDSQSTIKDCATVFALSTMTSSVQVYNLSQNIQEDDLQHLQLFTEYGR
  LAMEEIYQKPFQTLMFLIRDWSYPYEHSYGLEGGKQFLEKRLQVKQNQHEELQNVRKHIHNCFSNLGCFLLPHPG
  LKVATNPSFDGRLKDIDEDFKRELRNLVPLLLAPENLVEKEISGSKVTCRDLVEYFKAYIKIYQGEELPHPKSML
  QATAEANNLAAVAGARDTYCKSMEQVCGGDKPYIAPSDLERKHLDLKEVAIKQFRSVKKMGGDEFCRRYQDQLEA
  EIEETYANFIKHNDGKNIFYAARTPATLFAVMFAMYIISGLTGFIGLNSIAVLCNLVMGLALIFLCTWAYVKYSG
  EFREIGTVIDQIAETLWEQVLKPLGDNLMEENIRQSVTNSIKAGLTDQVSHHARLKTD

• Structural information:
  • Protein Domains: (91..33-)
    (/note="GB1/RHD3-type-G")
  • Interpro: IPR030386  IPR003191  IPR036543  IPR015894  IPR027417  
  • Prosite: PS51715
  • STRING: ENSP00000368237
• Other Databases: GeneCards:  ATL2  Malacards:  ATL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005525	GTP binding	IBA	molecular function
GO:0003924	GTPase activity	IBA	molecular function
GO:0051260	protein homooligomerization	IBA	biological process
GO:0007029	endoplasmic reticulum organization	IBA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0051260	protein homooligomerization	IDA	biological process
GO:0042802	identical protein binding	IDA	molecular function
GO:0016021	integral component of membrane	IDA	cellular component
GO:0098826	endoplasmic reticulum tubular network membrane	IDA	cellular component
GO:0003924	GTPase activity	NAS	molecular function
GO:0007030	Golgi organization	IMP	biological process
GO:0007029	endoplasmic reticulum organization	IMP	biological process
GO:0007029	endoplasmic reticulum organization	IMP	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	NOT|biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990809	endoplasmic reticulum tubular network membrane organization	IMP	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq