Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CRB2 Gene

Aliases for CRB2 Gene

  • Crumbs 2, Cell Polarity Complex Component 2 3
  • Crumbs Family Member 2 2 3 5
  • Crumbs-Like Protein 2 3 4
  • Crumbs Homolog 2 (Drosophila) 2
  • Crumbs Homolog 2 3
  • FSGS9 3
  • VMCKD 3

External Ids for CRB2 Gene

Previous GeneCards Identifiers for CRB2 Gene

  • GC09P121513
  • GC09P123198
  • GC09P125158
  • GC09P126118
  • GC09P095733

Summaries for CRB2 Gene

GeneCards Summary for CRB2 Gene

CRB2 (Crumbs 2, Cell Polarity Complex Component) is a Protein Coding gene. Diseases associated with CRB2 include Ventriculomegaly With Cystic Kidney Disease and Focal Segmental Glomerulosclerosis 9. Among its related pathways are Hippo signaling pathway. GO annotations related to this gene include calcium ion binding and aspartic-type endopeptidase inhibitor activity. An important paralog of this gene is JAG1.

UniProtKB/Swiss-Prot for CRB2 Gene

  • May play a role in polarized cells morphogenesis.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRB2 Gene

Genomics for CRB2 Gene

Regulatory Elements for CRB2 Gene

Enhancers for CRB2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CRB2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CRB2 Gene

Chromosome:
9
Start:
123,354,459 bp from pter
End:
123,380,335 bp from pter
Size:
25,877 bases
Orientation:
Plus strand

Genomic View for CRB2 Gene

Genes around CRB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRB2 Gene

Proteins for CRB2 Gene

  • Protein details for CRB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5IJ48-CRUM2_HUMAN
    Recommended name:
    Protein crumbs homolog 2
    Protein Accession:
    Q5IJ48
    Secondary Accessions:
    • A2A3N4
    • Q0QD46
    • Q5JS41
    • Q5JS43
    • Q6ZTA9
    • Q6ZWI6

    Protein attributes for CRB2 Gene

    Size:
    1285 amino acids
    Molecular mass:
    134265 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CRB2 Gene

    Alternative splice isoforms for CRB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CRB2 Gene

Proteomics data for CRB2 Gene at MOPED

Post-translational modifications for CRB2 Gene

  • Glycosylation at Asn 235, Asn 438, Asn 478, Asn 669, Asn 690, Asn 786, Asn 800, Asn 836, Asn 886, Asn 926, Asn 1009, Asn 1141, and Asn 1158
  • Modification sites at PhosphoSitePlus

Other Protein References for CRB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CRB2 Gene

Domains & Families for CRB2 Gene

Gene Families for CRB2 Gene

Suggested Antigen Peptide Sequences for CRB2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5IJ48

UniProtKB/Swiss-Prot:

CRUM2_HUMAN :
  • Contains 15 EGF-like domains.
  • Belongs to the Crumbs protein family.
Domain:
  • Contains 15 EGF-like domains.
  • Contains 3 laminin G-like domains.
Family:
  • Belongs to the Crumbs protein family.
genes like me logo Genes that share domains with CRB2: view

Function for CRB2 Gene

Molecular function for CRB2 Gene

UniProtKB/Swiss-Prot Function:
May play a role in polarized cells morphogenesis.

Gene Ontology (GO) - Molecular Function for CRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with CRB2: view
genes like me logo Genes that share phenotypes with CRB2: view

Human Phenotype Ontology for CRB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CRB2 Gene

MGI Knock Outs for CRB2:

Animal Model Products

  • Taconic Biosciences Mouse Models for CRB2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CRB2 Gene

Localization for CRB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRB2 Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CRB2 Gene COMPARTMENTS Subcellular localization image for CRB2 gene
Compartment Confidence
extracellular 5
plasma membrane 5
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with CRB2: view

Pathways & Interactions for CRB2 Gene

SuperPathways for CRB2 Gene

Superpath Contained pathways
1 Hippo signaling pathway
genes like me logo Genes that share pathways with CRB2: view

Pathways by source for CRB2 Gene

1 KEGG pathway for CRB2 Gene

Gene Ontology (GO) - Biological Process for CRB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010718 positive regulation of epithelial to mesenchymal transition ISS --
GO:0010951 negative regulation of endopeptidase activity IMP 20299451
GO:0045199 maintenance of epithelial cell apical/basal polarity ISS --
genes like me logo Genes that share ontologies with CRB2: view

No data available for SIGNOR curated interactions for CRB2 Gene

Drugs & Compounds for CRB2 Gene

No Compound Related Data Available

Transcripts for CRB2 Gene

Unigene Clusters for CRB2 Gene

Crumbs homolog 2 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CRB2 Gene

No ASD Table

Relevant External Links for CRB2 Gene

GeneLoc Exon Structure for
CRB2
ECgene alternative splicing isoforms for
CRB2

Expression for CRB2 Gene

mRNA expression in normal human tissues for CRB2 Gene

mRNA differential expression in normal tissues according to GTEx for CRB2 Gene

This gene is overexpressed in Brain - Amygdala (x5.6), Brain - Caudate (basal ganglia) (x5.0), Brain - Hippocampus (x4.9), Brain - Putamen (basal ganglia) (x4.2), and Brain - Cortex (x4.0).

Protein differential expression in normal tissues from HIPED for CRB2 Gene

This gene is overexpressed in Platelet (34.5), Urine (17.8), and Amniocyte (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CRB2 Gene



SOURCE GeneReport for Unigene cluster for CRB2 Gene Hs.710092

mRNA Expression by UniProt/SwissProt for CRB2 Gene

Q5IJ48-CRUM2_HUMAN
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.
genes like me logo Genes that share expression patterns with CRB2: view

Protein tissue co-expression partners for CRB2 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CRB2 Gene

Orthologs for CRB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CRB2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CRB2 35
  • 84.27 (n)
  • 81.53 (a)
CRB2 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CRB2 35
  • 84.18 (n)
  • 81.03 (a)
mouse
(Mus musculus)
Mammalia Crb2 35
  • 80.8 (n)
  • 79.92 (a)
Crb2 16
Crb2 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CRB2 35
  • 99.09 (n)
  • 98.75 (a)
CRB2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Crb2 35
  • 80.27 (n)
  • 78.15 (a)
oppossum
(Monodelphis domestica)
Mammalia CRB2 36
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CRB2 36
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRB2 36
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 19 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii CRB2 (2 of 7) 36
  • 15 (a)
OneToMany
CRB2 (6 of 7) 36
  • 14 (a)
OneToMany
CRB2 (7 of 7) 36
  • 41 (a)
OneToMany
crb2a 36
  • 35 (a)
OneToMany
crb2b 36
  • 34 (a)
OneToMany
fbn2a 36
  • 8 (a)
OneToMany
fbn2b 36
  • 11 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta crb 36
  • 20 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea crb-1 36
  • 20 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToMany
-- 36
  • 31 (a)
OneToMany
-- 36
  • 20 (a)
OneToMany
-- 36
  • 17 (a)
OneToMany
-- 36
  • 17 (a)
OneToMany
-- 36
  • 12 (a)
OneToMany
-- 36
  • 18 (a)
OneToMany
-- 36
  • 25 (a)
OneToMany
-- 36
  • 35 (a)
OneToMany
-- 36
  • 6 (a)
OneToMany
-- 36
  • 22 (a)
OneToMany
-- 36
  • 30 (a)
OneToMany
-- 36
  • 15 (a)
OneToMany
-- 36
  • 14 (a)
OneToMany
-- 36
  • 36 (a)
OneToMany
-- 36
  • 33 (a)
OneToMany
-- 36
  • 20 (a)
OneToMany
CSA.7986 36
  • 20 (a)
OneToMany
Species with no ortholog for CRB2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CRB2 Gene

ENSEMBL:
Gene Tree for CRB2 (if available)
TreeFam:
Gene Tree for CRB2 (if available)

Paralogs for CRB2 Gene

Paralogs for CRB2 Gene

(4) SIMAP similar genes for CRB2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CRB2: view

Variants for CRB2 Gene

Sequence variations from dbSNP and Humsavar for CRB2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs73571404 - 123,362,907(+) AGACC(C/T)GTGCG reference, missense, utr-variant-5-prime
VAR_022985 -
VAR_022986 -
rs1105223 - 123,365,932(-) CCTCC(A/C/G)TCTCG reference, missense
rs1105222 - 123,365,974(-) ACGAG(C/G)CCCCG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CRB2 Gene

Variant ID Type Subtype PubMed ID
nsv518647 CNV Loss 19592680
nsv6707 CNV Insertion 18451855
nsv893827 CNV Gain 21882294

Variation tolerance for CRB2 Gene

Residual Variation Intolerance Score: 76.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.11; 92.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CRB2 Gene

Human Gene Mutation Database (HGMD)
CRB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRB2 Gene

Disorders for CRB2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CRB2 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ventriculomegaly with cystic kidney disease
  • ventriculomegaly-cystic kidney disease
focal segmental glomerulosclerosis 9
  • glomerulosclerosis, focal segmental, 9
cystic kidney disease
  • kidney cyst
familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
  • familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
kidney disease
  • nephropathy
- elite association - COSMIC cancer census association via MalaCards
Search CRB2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CRUM2_HUMAN
  • Focal segmental glomerulosclerosis 9 (FSGS9) [MIM:616220]: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. {ECO:0000269 PubMed:25557779}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ventriculomegaly with cystic kidney disease (VMCKD) [MIM:219730]: A severe autosomal recessive developmental disorder manifesting in utero. It is characterized by cerebral ventriculomegaly, echogenic kidneys, microscopic renal tubular cysts and findings of congenital nephrosis. {ECO:0000269 PubMed:25557780}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CRB2

Genetic Association Database (GAD)
CRB2
Human Genome Epidemiology (HuGE) Navigator
CRB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRB2
genes like me logo Genes that share disorders with CRB2: view

No data available for Genatlas for CRB2 Gene

Publications for CRB2 Gene

  1. Characterization of the crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis. (PMID: 15851977) van den Hurk J.A.J.M. … den Hollander A.I. (Mol. Vis. 2005) 3 4 23 67
  2. Identification and characterization of Crumbs homolog 2 gene at human chromosome 9q33.3. (PMID: 14767562) Katoh M. … Katoh M. (Int. J. Oncol. 2004) 2 3 23
  3. Defects of CRB2 cause steroid-resistant nephrotic syndrome. (PMID: 25557779) Ebarasi L. … Majumdar A. (Am. J. Hum. Genet. 2015) 3
  4. CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein. (PMID: 25557780) Slavotinek A. … Mehta L. (Am. J. Hum. Genet. 2015) 3
  5. CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice. (PMID: 24565864) Pellissier L.P. … Wijnholds J. (Hum. Mol. Genet. 2014) 3

Products for CRB2 Gene

Sources for CRB2 Gene

Content