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Crb2 Gene Detail
Summary
  • Symbol
    Crb2
  • Name
    crumbs family member 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:2679260
    NCBI Gene: 241324
Location & Maps
more
  • Sequence Map
    Chr2:37776249-37799103 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      22855 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 24.19 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    CRB2, crumbs 2, cell polarity complex component
  • Vertebrate Orthologs
    7
  • Human Ortholog
    CRB2, crumbs 2, cell polarity complex component
    Orthology source: HomoloGene
  • Synonyms
    FSGS9, VMCKD
  • Links
    NCBI Gene ID: 286204
    neXtProt AC: NX_Q5IJ48

  • Chr Location
    9q33.3; chr9:123354459-123380335 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Crb2 mouse models; 2 with human CRB2 associations

Human Disease Mouse Models
       Retinitis Pigmentosa; RP   OMIM: 268000 View 2 models
       Focal Segmental Glomerulosclerosis 9; FSGS9   OMIM: 616220
Ventriculomegaly with Cystic Kidney Disease; VMCKD   OMIM: 219730
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    57 phenotypes from 3 alleles in 6 genetic backgrounds
    18 phenotypes from multigenic genotypes
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Gene trapped
    1
  • Targeted
    7
  • Incidental Mutations
    APF , CvDC
Homozygous inactivation of this gene causes severe gastrulation defects, impaired somitogenesis and organogenesis. and complete embryonic death by E12.5. Several organ primordia, including neuroepithelium, gut, and heart, fail to form properly.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012713 VEGA Gene Model | MGI Sequence Detail 22855 C57BL/6J ±  kb
transcript OTTMUST00000030341 VEGA | MGI Sequence Detail 6372 Not Applicable  
polypeptide OTTMUSP00000013639 VEGA | MGI Sequence Detail 1282 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    40 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000005849 protein crumbs homolog 2
  • InterPro Domains
    IPR013320 Concanavalin A-like lectin/glucanase domain
    IPR018097 EGF-like calcium-binding, conserved site
    IPR001881 EGF-like calcium-binding domain
    IPR013032 EGF-like, conserved site
    IPR000742 EGF-like domain
    IPR000152 EGF-type aspartate/asparagine hydroxylation site
    IPR009030 Growth factor receptor cysteine-rich domain
    IPR001791 Laminin G domain
    IPR033325 Protein crumbs homologue 2
Molecular
Reagents
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  • All nucleic 29
    cDNA 29

    Microarray probesets 1
References
more
  • Summaries
    All 42
    Developmental Gene Expression 11
    Diseases 4
    Gene Ontology 4
    Phenotypes 14
  • Earliest
    J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
  • Latest
    J:228786 Charrier LE, et al., Mouse Crumbs3 sustains epithelial tissue morphogenesis in vivo. Sci Rep. 2015;5:17699

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory