• Gene id: 23568

Gene Summary

• Gene Symbol: ARL2BP   Gene   UCSC   Ensembl
• Aliases: BART, BART1, RP66
• Gene name: ADP ribosylation factor like GTPase 2 binding protein
• Alternate names: ADP-ribosylation factor-like protein 2-binding protein, ADP-ribosylation factor like 2 binding protein, ARF-like 2-binding protein, ARL2-binding protein, Arf-like 2 binding protein BART1, binder of ARF2 protein 1, binder of Arl Two, binder of Arl2, retinitis pigm,
• Gene location: 16q13 (57245258: 57253634)     Exons: 6     NC_000016.10
• Gene summary(Entrez): ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinity but does not interact with ARL2.GDP, activated ARF, o
• OMIM: 615407

Protein Summary

• Protein general information: Q9Y2Y0  
  • Name: ADP ribosylation factor like protein 2 binding protein (ARF like 2 binding protein) (ARL2 binding protein) (Binder of ARF2 protein 1)
  • Length: 163  
  • Mass: 18822
  • Tissue specificity: Expressed in retina pigment epithelial cells (at protein level). Widely expressed. {ECO
• Sequence:

  MDALEGESFALSFSSASDAEFDAVVGYLEDIIMDDEFQLLQRNFMDKYYLEFEDTEENKLIYTPIFNEYISLVEK
  YIEEQLLQRIPEFNMAAFTTTLQHHKDEVAGDIFDMLLTFTDFLAFKEMFLDYRAEKEGRGLDLSSGLVVTSLCK
  SSSLPASQNNLRH

• Structural information:
  • Interpro: IPR038849  IPR023379  IPR042541  
  • PDB: 2K9A 3DOE 3DOF
  • PDBsum: 2K9A 3DOE 3DOF
  • DIP: 48323
  • STRING: ENSP00000219204
• Other Databases: GeneCards:  ARL2BP  Malacards:  ARL2BP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051457	maintenance of protein location in nucleus	IBA	biological process
GO:0005758	mitochondrial intermembrane space	IBA	cellular component
GO:0042531	positive regulation of tyrosine phosphorylation of STAT protein	IBA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0030496	midbody	IDA	cellular component
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0051457	maintenance of protein location in nucleus	IMP	biological process
GO:0042531	positive regulation of tyrosine phosphorylation of STAT protein	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003713	transcription coactivator activity	IMP	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030695	GTPase regulator activity	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0050796	regulation of insulin secretion	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005758	mitochondrial intermembrane space	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA	biological process

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	KEGG:H00527
Spermatogenic defects	MIK: 31037746
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)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R