Crb2 crumbs family member 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Crb2provided by MGI
Official Full Name: crumbs family member 2provided by MGI
Primary source: MGI:MGI:2679260
See related: Ensembl:ENSMUSG00000035403 AllianceGenome:MGI:2679260
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 5930402A21
Summary: Predicted to enable aspartic-type endopeptidase inhibitor activity. Involved in several processes, including embryonic morphogenesis; maintenance of epithelial cell apical/basal polarity; and photoreceptor cell maintenance. Located in several cellular components, including apical plasma membrane; apicolateral plasma membrane; and cell junction. Part of subapical complex. Is active in apical part of cell. Is expressed in cerebellum ventricular layer; early conceptus; and embryo. Used to study retinitis pigmentosa. Human ortholog(s) of this gene implicated in focal segmental glomerulosclerosis 9 and ventriculomegaly - cystic kidney disease. Orthologous to human CRB2 (crumbs cell polarity complex component 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in CNS E11.5 (RPKM 6.1), whole brain E14.5 (RPKM 3.0) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 B; 2 24.19 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (37666238..37689115)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (37776225..37799103)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Novel Mouse Model of Idiopathic Nephrotic Syndrome Induced by Immunization with the Podocyte Protein Crb2.
Title: A Novel Mouse Model of Idiopathic Nephrotic Syndrome Induced by Immunization with the Podocyte Protein Crb2.
Podocyte-specific Crb2 knockout mice develop focal segmental glomerulosclerosis.
Title: Podocyte-specific Crb2 knockout mice develop focal segmental glomerulosclerosis.
CR2 expression during retinal vascular development.
Title: Crumbs proteins regulate layered retinal vascular development required for vision.
Crumbs2 role in the spinal cord central canal embryonic development.
Title: Crumbs2 mediates ventricular layer remodelling to form the spinal cord central canal.
These results suggest that human leber congenital amaurosis 8 can be modeled in the mouse by simultaneously ablating Crb1/2 from the beginning of eye development.
Title: Targeted deletion of Crb1/Crb2 in the optic vesicle models key features of leber congenital amaurosis 8.
data suggest that CRB2 present in rods is required to prevent photoreceptor degeneration and vision loss.
Title: CRB2 Loss in Rod Photoreceptors Is Associated with Progressive Loss of Retinal Contrast Sensitivity.
in the cortex of CRB1(rd8) mutant mice that contain a mutation in the Crb1 gene generating a truncated CRB1 protein, there is an abnormal increase in the expression levels of the CRB2 protein which suggests a possible compensatory mechanism for the malfunction of CRB1 in this mutant background.
Title: Expression and localization of the polarity protein CRB2 in adult mouse brain: a comparison with the CRB1(rd8) mutant mouse model.
We hypothesize, from these animal models, that decreased levels of CRB2 in immature photoreceptors adjust retinitis pigmentosa because of the loss of CRB1 into Leber congenital amaurosis phenotype.
Title: CRB2 in immature photoreceptors determines the superior-inferior symmetry of the developing retina to maintain retinal structure and function.
CRB2 may play an important role in the mechanistic pathway of developing podocytes through tyrosine phosphorylation by associating with mTORC1 activation.
Title: Association of crumbs homolog-2 with mTORC1 in developing podocyte.
cells with high apical CRB2 are basally extruded from the epiblast by neighbouring cells with high levels of apical myosin.
Title: Crumbs2 promotes cell ingression during the epithelial-to-mesenchymal transition at gastrulation.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (6) 1 citation

General gene information

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Markers

48.MMHAP80FLH6.seq (e-PCR)
- UniSTS:124702

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables aspartic-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables aspartic-type endopeptidase inhibitor activity	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in circulatory system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of cell polarity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment or maintenance of epithelial cell apical/basal polarity	IBA Inferred from Biological aspect of Ancestor more info
involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
involved_in ingression involved in gastrulation with mouth forming second	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maintenance of epithelial cell apical/basal polarity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mesoderm formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of endopeptidase activity	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of endopeptidase activity	ISO Inferred from Sequence Orthology more info
involved_in notochord formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in photoreceptor cell maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epithelial to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retina homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retinal cone cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in somitogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in apical part of cell	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apicolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of subapical complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein crumbs homolog 2

Names: crumbs homolog 2; crumbs-like protein 2; crumbs2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001163566.2 → NP_001157038.1 protein crumbs homolog 2 isoform 1 precursor

See identical proteins and their annotated locations for NP_001157038.1

Status: VALIDATED

Source sequence(s)

AL805959

Consensus CDS

CCDS50580.1

UniProtKB/Swiss-Prot

A2ALU1, Q6P6N1, Q80YA8

Related

ENSMUSP00000058007.8, ENSMUST00000050372.10

Conserved Domains (4) summary

cd00054
Location:324 → 360

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00110
Location:666 → 776

LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

pfam00008
Location:814 → 844

EGF; EGF-like domain

pfam02210
Location:469 → 592

Laminin_G_2; Laminin G domain
NM_001413709.1 → NP_001400638.1 protein crumbs homolog 2 isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AL805959