• Gene id: 11159

Gene Summary

• Gene Symbol: RABL2A   Gene   UCSC   Ensembl
• Gene name: RAB, member of RAS oncogene family like 2A
• Alternate names: rab-like protein 2A,
• Gene location: 2q14.1 (113627217: 113643397)     Exons: 9     NC_000002.12
• Gene summary(Entrez): This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytoti
• OMIM: 605412

Protein Summary

• Protein general information: Q9UBK7  
  • Name: Rab like protein 2A
  • Length: 228  
  • Mass: 26,115
• Sequence:

  MAEDKTKPSELDQGKYDADDNVKIICLGDSAVGKSKLMERFLMDGFQPQQLSTYALTLYKHTATVDGKTILVDFW
  DTAGQERFQSMHASYYHKAHACIMVFDIQRKVTYRNLSTWYTELREFRPEIPCIVVANKIDDINVTQKSFNFAKK
  FSLPLYFVSAADGTNVVKLFNDAIRLAVSYKQNSQDFMDEIFQELENFSLEQEEEDVPDQEQSSSIETPSEEVAS
  PHS

• Structural information:
  • Interpro: IPR027417  IPR005225  IPR001806  
  • Prosite: PS51419
  • STRING: ENSP00000376871
• Other Databases: GeneCards:  RABL2A  Malacards:  RABL2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003924	GTPase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005622	intracellular	IEA	cellular component
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003924	GTPase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005622	intracellular	IEA	cellular component
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0003924	GTPase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Oligoasthenozoospermia	MIK: 24825419
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Oligoasthenospermia	MIK: 24825419
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24825419	Oligoasthenospermia	RABL2A (114391996 delC allele)	Austral ian	215 (110 oligoasthenospermic infertile, 105 proven fertile.)	Male infertility
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