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

Gene ID: 241324, updated on 12-May-2024

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 expressed in 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, Apr 2022]
Expression
Biased expression in CNS E11.5 (RPKM 6.1), whole brain E14.5 (RPKM 3.0) and 13 other tissues See more
Orthologs
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Genomic context

See Crb2 in Genome Data Viewer
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_000068.8Genomic Context describing neighboring genes Neighboring gene spermatid perinuclear RNA binding protein Neighboring gene zinc finger protein 609 pseudogene Neighboring gene microRNA 5128 Neighboring gene STARR-positive B cell enhancer ABC_E9511 Neighboring gene STARR-seq mESC enhancer starr_04315 Neighboring gene STARR-positive B cell enhancer ABC_E5909 Neighboring gene DENN domain containing 1A Neighboring gene STARR-seq mESC enhancer starr_04318 Neighboring gene STARR-seq mESC enhancer starr_04319 Neighboring gene STARR-seq mESC enhancer starr_04321 Neighboring gene predicted gene, 46736 Neighboring gene predicted gene 27197 Neighboring gene LIM homeobox protein 2

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (6)  1 citation

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
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 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
 
acts_upstream_of_or_within gastrulation IEA
Inferred from Electronic Annotation
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 
acts_upstream_of_or_within multicellular organism development 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 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
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

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)

  1. NM_001163566.2NP_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:324360
    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:666776
    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:814844
    EGF; EGF-like domain
    pfam02210
    Location:469592
    Laminin_G_2; Laminin G domain
  2. NM_001413709.1NP_001400638.1  protein crumbs homolog 2 isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AL805959

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    37666238..37689115
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_866014.2 RNA Sequence

  2. XR_866013.2 RNA Sequence

  3. XR_374093.2 RNA Sequence