Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
286204
Gene name Gene Name - the full gene name approved by the HGNC.
Crumbs cell polarity complex component 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRB2
Synonyms (NCBI Gene) Gene synonyms aliases
FSGS9, VMCKD
Disease Acronyms (UniProt) Disease acronyms from UniProt database
FSGS9, VMCKD
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q33.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs145948620 C>T Conflicting-interpretations-of-pathogenicity Synonymous variant, non coding transcript variant, coding sequence variant
rs147412276 G>A,C Conflicting-interpretations-of-pathogenicity, benign Missense variant, non coding transcript variant, coding sequence variant
rs202128397 C>T Pathogenic, likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs375072557 G>A Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs730880300 A>C Likely-pathogenic, pathogenic Missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017520 hsa-miR-335-5p Microarray 18185580
MIRT043677 hsa-miR-342-3p CLASH 23622248
MIRT613893 hsa-miR-8485 HITS-CLIP 23824327
MIRT613892 hsa-miR-329-3p HITS-CLIP 23824327
MIRT613891 hsa-miR-362-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001707 Process Mesoderm formation ISS
GO:0001756 Process Somitogenesis ISS
GO:0001895 Process Retina homeostasis ISS
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 17920587
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609720 18688 ENSG00000148204
Protein
UniProt ID Q5IJ48
Protein name Protein crumbs homolog 2 (Crumbs-like protein 2)
Protein function Apical polarity protein that plays a central role during the epithelial-to-mesenchymal transition (EMT) at gastrulation, when newly specified mesodermal cells move inside the embryo (By similarity). Acts by promoting cell ingression, the process
PDB 2WO6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00008 EGF 112 142 EGF-like domain Domain
PF00008 EGF 150 180 EGF-like domain Domain
PF00008 EGF 188 219 EGF-like domain Domain
PF00008 EGF 227 257 EGF-like domain Domain
PF00008 EGF 324 354 EGF-like domain Domain
PF00008 EGF 362 392 EGF-like domain Domain
PF02210 Laminin_G_2 465 588 Laminin G domain Domain
PF00008 EGF 609 639 EGF-like domain Domain
PF00008 EGF 811 841 EGF-like domain Domain
PF00008 EGF 1060 1090 EGF-like domain Domain
PF12661 hEGF 1103 1124 Human growth factor-like EGF Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in glomeruli, podocytes of the glomerular capillary loops, and parietal glomerular epithelial cells in the kidney (at protein level) (PubMed:27942854, PubMed:29473663). Expressed in retina, fetal eye and brain (PubMed:1585197
Sequence
MALARPGTPDPQALASVLLLLLWAPALSLLAGTVPSEPPSACASDPCAPGTECQATESGG
YTCGPMEPRGCATQPCHHGALCVPQGPDPTGFRCYCVPGFQGPRCELDIDECASRPCHHG
ATCRNLADRYECHCPLGYAGVT
CEMEVDECASAPCLHGGSCLDGVGSFRCVCAPGYGGTR
CQLDLDECQSQPCAHGGTCHDLVNGFRCDCAGTGYEGTHCEREVLECASAPCEHNASCLE
GLGSFRCLCWPGYSGEL
CEVDEDECASSPCQHGGRCLQRSDPALYGGVQAAFPGAFSFRH
AAGFLCHCPPGFEGADCGVEVDECASRPCLNGGHCQDLPNGFQCHCPDGYAGPTCEEDVD
ECLSDPCLHGGTCSDTVAGYICRCPETWGGRDCSVQLTGCQGHTCPLAATCIPIFESGVH
SYVCHCPPGTHGPFCGQNTTFSVMAGSPIQASVPAGGPLGLALRFRTTLPAGTLATRNDT
KESLELALVAATLQATLWSYSTTVLVLRLPDLALNDGHWHQVEVVLHLATLELRLWHEGC
PARLCVASGPVALASTASATPLPAGISSAQLGDATFAGCLQDVRVDGH
LLLPEDLGENVL
LGCERREQCRPLPCVHGGSCVDLWTHFRCDCARPHRGPTCADEIPAATFGLGGAPSSASF
LLQELPGPNLTVSFLLRTRESAGLLLQFANDSAAGLTVFLSEGRIRAEVPGSPAVVLPGR
WDDGLRHLVMLSFGPDQLQDLGQHVHVGGRLLAADSQPWGGPFRGCLQDLRLDGCHLPFF
PLPLDNSSQPSELGGRQSWNLTAGCVSEDMCSPDPCFNGGTCLVTWNDFHCTCPANFTGP
T
CAQQLWCPGQPCLPPATCEEVPDGFVCVAEATFREGPPAAFSGHNASSGRLLGGLSLAF
RTRDSEAWLLRAAAGALEGVWLAVRNGSLAGGVRGGHGLPGAVLPIPGPRVADGAWHRVR
LAMERPAATTSRWLLWLDGAATPVALRGLASDLGFLQGPGAVRILLAENFTGCLGRVALG
GLPLPLARPRPGAAPGAREHFASWPGTPAPILGCRGAPVCAPSPCLHDGACRDLFDAFAC
ACGPGWEGPR
CEAHVDPCHSAPCARGRCHTHPDGRFECRCPPGFGGPRCRLPVPSKECSL
NVTCLDGSPCEGGSPAANCSCLEGLAGQRCQVPTLPCEANPCLNGGTCRAAGGVSECICN
ARFSGQFCEVAKGLPLPLPFPLLEVAVPAACACLLLLLLGLLSGILAARKRRQSEGTYSP
SQQEVAGARLEMDSVLKVPPEERLI
Sequence length 1285
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Hippo signaling pathway  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Focal segmental glomerulosclerosis FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 rs267606877, rs267607183, rs267606878, rs267606879, rs267606880, rs121907909, rs74315343, rs121908415, rs121908416, rs121908417, rs1554181304, rs121434390, rs121434392, rs121434393, rs121434394
View all (39 more)
29473663, 25557779
Hydrocephalus Hydrocephalus rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Nephrotic syndrome Nephrotic Syndrome rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910
View all (152 more)
Polydactyly POLYDACTYLY, POSTAXIAL rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474
View all (3 more)
Unknown
Disease term Disease name Evidence References Source
Nephrotic Syndrome familial idiopathic steroid-resistant nephrotic syndrome GenCC
Retinitis Pigmentosa retinitis pigmentosa GenCC
Metabolic Syndrome Metabolic Syndrome GWAS
Dementia Dementia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Associate 25557780
Cysts Associate 36803301
Genetic Diseases Inborn Associate 39987590
Glomerulosclerosis Focal Segmental Associate 30212996, 34435324
Hydrocephalus Associate 25557780, 36803301, 39987590, 40603987
Hydrocephalus X linked Associate 36803301
Kidney Diseases Associate 25557780
Kidney Diseases Cystic Associate 39987590
Leber Congenital Amaurosis Associate 39987590
Nephrosis Associate 25557780