• Gene id: 80776

Gene Summary

• Gene Symbol: B9D2   Gene   UCSC   Ensembl
• Aliases: ICIS-1, JBTS34, MKS10, MKSR-2, MKSR2
• Gene name: B9 domain containing 2
• Alternate names: B9 domain-containing protein 2, B9 protein domain 2, MKS1-related protein 2, involved in cIlia stability-1,
• Gene location: 19q13.2 (41364533: 41354416)     Exons: 5     NC_000019.10
• Gene summary(Entrez): This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results i
• OMIM: 194526

Protein Summary

• Protein general information: Q9BPU9  
  • Name: B9 domain containing protein 2 (MKS1 related protein 2)
  • Length: 175  
  • Mass: 19261
• Sequence:

  MAEVHVIGQIIGASGFSESSLFCKWGIHTGAAWKLLSGVREGQTQVDTPQIGDMAYWSHPIDLHFATKGLQGWPR
  LHFQVWSQDSFGRCQLAGYGFCHVPSSPGTHQLACPTWRPLGSWREQLARAFVGGGPQLLHGDTIYSGADRYRLH
  TAAGGTVHLEIGLLLRNFDRYGVEC

• Structural information:
  • Protein Domains: (2..11-)
    (/note="C2-B9-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00713"-)
  • Interpro: IPR010796  
  • Prosite: PS51381
  • STRING: ENSP00000243578
• Other Databases: GeneCards:  B9D2  Malacards:  B9D2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060271	cilium assembly	IBA	biological process
GO:0036038	MKS complex	IBA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0060271	cilium assembly	ISS	biological process
GO:0060271	cilium assembly	ISS	biological process
GO:0043015	gamma-tubulin binding	ISS	molecular function
GO:0036038	MKS complex	ISS	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0097711	ciliary basal body-plasma membrane docking	TAS	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: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:0060271	cilium assembly	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0036038	MKS complex	IEA	cellular component
GO:0043015	gamma-tubulin binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component

Diseases

Associated diseases	References
Meckel syndrome	KEGG:H00261
Meckel syndrome	KEGG:H00261
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq