• Gene id: 11158

Gene Summary

• Gene Symbol: RABL2B   Gene   UCSC   Ensembl
• Gene name: RAB, member of RAS oncogene family like 2B
• Alternate names: rab-like protein 2B,
• Gene location: 22q13.33 (50783704: 50767499)     Exons: 11     NC_000022.11
• Gene summary(Entrez): The RABL2B protein is a member of the RAB gene family which belongs to the RAS GTPase superfamily. RABL2B is located within a subtelomeric region of 22q13.3. Multiple alternatively spliced transcript variants encoding several different isoforms have been
• OMIM: 605413

SNPs

rs144944885

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000022.11   g.50776483del
NC_000022.10   g.51214911del
NW_004070876.1   g.11558del|SEQ=[G/-]|GENE=RABL2B
RPL23AP82   284942

Protein Summary

• Protein general information: Q9UNT1  
  • Name: Rab like protein 2B
  • Length: 228  
  • Mass: 26101
  • Tissue specificity: Expressed in the testis. {ECO
• Sequence:

  MAEDKTKPSELDQGKYDADDNVKIICLGDSAVGKSKLMERFLMDGFQPQQLSTYALTLYKHTATVDGRTILVDFW
  DTAGQERFQSMHASYYHKAHACIMVFDVQRKVTYRNLSTWYTELREFRPEIPCIVVANKIDDINVTQKSFNFAKK
  FSLPLYFVSAADGTNVVKLFNDAIRLAVSYKQNSQDFMDEIFQELENFSLEQEEEDVPDQEQSSSIETPSEEAAS
  PHS

• Structural information:
  • Interpro: IPR027417  IPR041835  IPR005225  IPR001806  
  • Prosite: PS51419
  • CDD: cd04124
• Other Databases: GeneCards:  RABL2B  Malacards:  RABL2B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032482	Rab protein signal transduction	IBA	biological process
GO:0012505	endomembrane system	IBA	cellular component
GO:0003924	GTPase activity	IBA	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003924	GTPase activity	TAS	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0000242	pericentriolar material	IDA	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:0036064	ciliary basal body	IDA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0042073	intraciliary transport	IMP	biological process
GO:0060271	cilium assembly	IMP	biological process

Diseases

Associated diseases	References
Oligoasthenoteratozoospermia	MIK: 28138870
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