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Aliases for CRB2 Gene

Aliases for CRB2 Gene

  • Crumbs Family Member 2 2 3
  • Crumbs-Like Protein 2 3 4
  • Crumbs Homolog 2 (Drosophila) 2
  • Protein Crumbs Homolog 2 3
  • 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 Family Member 2) is a Protein Coding gene. Diseases associated with CRB2 include focal segmental glomerulosclerosis 9 and ventriculomegaly with cystic kidney disease. Among its related pathways are Hippo signaling pathway. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is NOTCH2.

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

Genomic Location for CRB2 Gene

123,356,167 bp from pter
123,380,335 bp from pter
24,169 bases
Plus strand

Genomic View for CRB2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Recommended name:
    Protein crumbs homolog 2
    Protein Accession:
    Secondary Accessions:
    • A2A3N4
    • Q0QD46
    • Q5JS41
    • Q5JS43
    • Q6ZTA9
    • Q6ZWI6

    Protein attributes for CRB2 Gene

    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


neXtProt entry for CRB2 Gene

Proteomics data for CRB2 Gene at MOPED

Post-translational modifications for CRB2 Gene

  • Glycosylation at Asn235, Asn438, Asn478, Asn669, Asn690, Asn786, Asn800, Asn836, Asn886, Asn926, Asn1009, Asn1141, and Asn1158
  • 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 for CRB2 Gene

Suggested Antigen Peptide Sequences for CRB2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



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

No data available for Gene Families for CRB2 Gene

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:0005509 calcium ion binding IEA --
GO:0005515 protein binding --
GO:0019828 contributes_to aspartic-type endopeptidase inhibitor activity IMP 20299451
GO:0019899 enzyme binding IMP 20299451
genes like me logo Genes that share ontologies with CRB2: view
genes like me logo Genes that share phenotypes with CRB2: view

Animal Model Products

miRNA for CRB2 Gene

miRTarBase miRNAs that target CRB2

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CRB2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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

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 --
GO:0016021 integral component of membrane IEA --
GO:0043234 protein complex IDA 20299451
GO:0045121 membrane raft IC 20299451
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with CRB2: view

Pathways 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:0001707 mesoderm formation ISS --
GO:0001756 somitogenesis ISS --
GO:0010718 positive regulation of epithelial to mesenchymal transition ISS --
GO:0010951 negative regulation of endopeptidase activity IMP 20299451
GO:0014028 notochord formation ISS --
genes like me logo Genes that share ontologies with CRB2: view

Transcripts for CRB2 Gene

Unigene Clusters for CRB2 Gene

Crumbs homolog 2 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CRB2

Flow Cytometry Products

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

No ASD Table

Relevant External Links for CRB2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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 (5.6), Brain - Caudate (basal ganglia) (5.0), Brain - Hippocampus (4.9), Brain - Putamen (basal ganglia) (4.2), and Brain - Cortex (4.0).

Protein differential expression in normal tissues for CRB2 Gene

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

Integrated Proteomics: protein expression 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

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 expressions with CRB2: view

Expression partners for CRB2 Gene

* - Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay 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
(Bos Taurus)
Mammalia CRB2 35
  • 84.27 (n)
  • 81.53 (a)
CRB2 36
  • 81 (a)
(Canis familiaris)
Mammalia CRB2 35
  • 84.18 (n)
  • 81.03 (a)
(Mus musculus)
Mammalia Crb2 35
  • 80.8 (n)
  • 79.92 (a)
Crb2 16
Crb2 36
  • 79 (a)
(Pan troglodytes)
Mammalia CRB2 35
  • 99.09 (n)
  • 98.75 (a)
CRB2 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Crb2 35
  • 80.27 (n)
  • 78.15 (a)
(Monodelphis domestica)
Mammalia CRB2 36
  • 51 (a)
(Ornithorhynchus anatinus)
Mammalia CRB2 36
  • 52 (a)
(Gallus gallus)
Aves CRB2 36
  • 41 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 19 (a)
(Danio rerio)
Actinopterygii CRB2 (2 of 7) 36
  • 15 (a)
CRB2 (6 of 7) 36
  • 14 (a)
CRB2 (7 of 7) 36
  • 41 (a)
crb2a 36
  • 35 (a)
crb2b 36
  • 34 (a)
fbn2a 36
  • 8 (a)
fbn2b 36
  • 11 (a)
fruit fly
(Drosophila melanogaster)
Insecta crb 36
  • 20 (a)
(Caenorhabditis elegans)
Secernentea crb-1 36
  • 20 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
-- 36
  • 31 (a)
-- 36
  • 20 (a)
-- 36
  • 17 (a)
-- 36
  • 17 (a)
-- 36
  • 12 (a)
-- 36
  • 18 (a)
-- 36
  • 25 (a)
-- 36
  • 35 (a)
-- 36
  • 6 (a)
-- 36
  • 22 (a)
-- 36
  • 30 (a)
-- 36
  • 15 (a)
-- 36
  • 14 (a)
-- 36
  • 36 (a)
-- 36
  • 33 (a)
-- 36
  • 20 (a)
CSA.7986 36
  • 20 (a)
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

Gene Tree for CRB2 (if available)
Gene Tree for CRB2 (if available)

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 MAF
rs868793 -- 123,365,160(+) CTGCA(A/G)TCTGA intron-variant
rs868794 -- 123,365,221(+) TTGCA(C/G)CACTG intron-variant
rs884320 -- 123,377,776(+) CCCGC(C/T)CCCTC utr-variant-3-prime, intron-variant
rs884321 -- 123,378,036(+) CTGAC(C/T)ACCTC utr-variant-3-prime, intron-variant
rs951621 -- 123,361,773(-) GCCTC(C/T)GTTTC intron-variant

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

Relevant External Links for CRB2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

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

Disorders for CRB2 Gene


  • 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.

(2) University of Copenhagen DISEASES for CRB2 Gene

Relevant External Links for CRB2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with CRB2: view

No data available for OMIM , Novoseek inferred disease relationships and 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
  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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4
  5. 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 4

Products for CRB2 Gene

Sources for CRB2 Gene

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