• Gene id: 286204

Gene Summary

• Gene Symbol: CRB2   Gene   UCSC   Ensembl
• Aliases: FSGS9, VMCKD
• Gene name: crumbs cell polarity complex component 2
• Alternate names: protein crumbs homolog 2, crumbs 2, cell polarity complex component, crumbs family member 2, crumbs-like protein 2,
• Gene location: 9q33.3 (123354064: 123380325)     Exons: 17     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of a family of proteins that are components of the Crumbs cell polarity complex. In mammals, members of this family are thought to play a role in many cellular processes in early embryonic development. A similar protein in Droso

Protein Summary

• Protein general information: Q5IJ48  
  • Name: Protein crumbs homolog 2 (Crumbs like protein 2)
  • Length: 1285  
  • Mass: 134265
  • Tissue specificity: Expressed in retina, fetal eye and brain. Also expressed in kidney, ARPE-19 and RPE/choroid cell lines, and at low levels in lung, placenta, and heart. {ECO
• Sequence:

  MALARPGTPDPQALASVLLLLLWAPALSLLAGTVPSEPPSACASDPCAPGTECQATESGGYTCGPMEPRGCATQP
  CHHGALCVPQGPDPTGFRCYCVPGFQGPRCELDIDECASRPCHHGATCRNLADRYECHCPLGYAGVTCEMEVDEC
  ASAPCLHGGSCLDGVGSFRCVCAPGYGGTRCQLDLDECQSQPCAHGGTCHDLVNGFRCDCAGTGYEGTHCEREVL
  ECASAPCEHNASCLEGLGSFRCLCWPGYSGELCEVDEDECASSPCQHGGRCLQRSDPALYGGVQAAFPGAFSFRH
  AAGFLCHCPPGFEGADCGVEVDECASRPCLNGGHCQDLPNGFQCHCPDGYAGPTCEEDVDECLSDPCLHGGTCSD
  TVAGYICRCPETWGGRDCSVQLTGCQGHTCPLAATCIPIFESGVHSYVCHCPPGTHGPFCGQNTTFSVMAGSPIQ
  ASVPAGGPLGLALRFRTTLPAGTLATRNDTKESLELALVAATLQATLWSYSTTVLVLRLPDLALNDGHWHQVEVV
  LHLATLELRLWHEGCPARLCVASGPVALASTASATPLPAGISSAQLGDATFAGCLQDVRVDGHLLLPEDLGENVL
  LGCERREQCRPLPCVHGGSCVDLWTHFRCDCARPHRGPTCADEIPAATFGLGGAPSSASFLLQELPGPNLTVSFL
  LRTRESAGLLLQFANDSAAGLTVFLSEGRIRAEVPGSPAVVLPGRWDDGLRHLVMLSFGPDQLQDLGQHVHVGGR
  LLAADSQPWGGPFRGCLQDLRLDGCHLPFFPLPLDNSSQPSELGGRQSWNLTAGCVSEDMCSPDPCFNGGTCLVT
  WNDFHCTCPANFTGPTCAQQLWCPGQPCLPPATCEEVPDGFVCVAEATFREGPPAAFSGHNASSGRLLGGLSLAF
  RTRDSEAWLLRAAAGALEGVWLAVRNGSLAGGVRGGHGLPGAVLPIPGPRVADGAWHRVRLAMERPAATTSRWLL
  WLDGAATPVALRGLASDLGFLQGPGAVRILLAENFTGCLGRVALGGLPLPLARPRPGAAPGAREHFASWPGTPAP
  ILGCRGAPVCAPSPCLHDGACRDLFDAFACACGPGWEGPRCEAHVDPCHSAPCARGRCHTHPDGRFECRCPPGFG
  GPRCRLPVPSKECSLNVTCLDGSPCEGGSPAANCSCLEGLAGQRCQVPTLPCEANPCLNGGTCRAAGGVSECICN
  ARFSGQFCEVAKGLPLPLPFPLLEVAVPAACACLLLLLLGLLSGILAARKRRQSEGTYSPSQQEVAGARLEMDSV
  LKVPPEERLI

• Structural information:
  • Protein Domains: (67..10-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (108..14-)
    (/note="EGF-like-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (146..18-)
    (/note="EGF-like-)
    (-)
    (/evid-)
  • Interpro: IPR013320  IPR001881  IPR013032  IPR000742  IPR000152   IPR018097  IPR001791  
  • Prosite: PS00010 PS00022 PS01186 PS50026 PS01187 PS50025
  • PDB: 2WO6
  • PDBsum: 2WO6
  • STRING: ENSP00000362734
• Other Databases: GeneCards:  CRB2  Malacards:  CRB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032991	protein-containing complex	IBA	cellular component
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA	biological process
GO:0045197	establishment or maintenance of epithelial cell apical/basal polarity	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0055111	ingression involved in gastrulation with mouth forming second	ISS	biological process
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0010718	positive regulation of epithelial to mesenchymal transition	ISS	biological process
GO:0010470	regulation of gastrulation	ISS	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0007369	gastrulation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030513	positive regulation of BMP signaling pathway	IEA	biological process
GO:0055111	ingression involved in gastrulation with mouth forming second	IEA	biological process
GO:0001707	mesoderm formation	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0010470	regulation of gastrulation	IEA	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	IEA	biological process
GO:0014028	notochord formation	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0045199	maintenance of epithelial cell apical/basal polarity	IEA	biological process
GO:0072358	cardiovascular system development	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0030513	positive regulation of BMP signaling pathway	ISS	biological process
GO:0045199	maintenance of epithelial cell apical/basal polarity	ISS	biological process
GO:0019828	aspartic-type endopeptidase inhibitor activity	IMP	molecular function
GO:0001707	mesoderm formation	ISS	biological process
GO:0072358	cardiovascular system development	ISS	biological process
GO:0044877	protein-containing complex binding	IMP	molecular function
GO:0014028	notochord formation	ISS	biological process
GO:0010951	negative regulation of endopeptidase activity	IMP	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	ISS	biological process
GO:0001756	somitogenesis	ISS	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04390	Hippo signaling pathway

Diseases

Associated diseases	References
Focal segmental glomerulosclerosis	KEGG:H00626
Focal segmental glomerulosclerosis	KEGG:H00626
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq