Human Gene CRB2 (ENST00000373631.8_4) from GENCODE V47lift37
  Description: crumbs cell polarity complex component 2, transcript variant 1 (from RefSeq NM_173689.7)
Gencode Transcript: ENST00000373631.8_4
Gencode Gene: ENSG00000148204.12_7
Transcript (Including UTRs)
   Position: hg19 chr9:126,118,476-126,141,032 Size: 22,557 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr9:126,118,540-126,139,341 Size: 20,802 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:126,118,476-126,141,032)mRNA (may differ from genome)Protein (1285 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CRUM2_HUMAN
DESCRIPTION: RecName: Full=Protein crumbs homolog 2; AltName: Full=Crumbs-like protein 2; Flags: Precursor;
FUNCTION: May play a role in polarized cells morphogenesis.
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein.
SUBCELLULAR LOCATION: Isoform 2: Secreted.
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.
SIMILARITY: Belongs to the Crumbs protein family.
SIMILARITY: Contains 15 EGF-like domains.
SIMILARITY: Contains 3 laminin G-like domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CRB2
Diseases sorted by gene-association score: ventriculomegaly with cystic kidney disease* (1681), focal segmental glomerulosclerosis 9* (1331), glomerulosclerosis, focal segmental, 1* (82), focal segmental glomerulosclerosis (9), cystic kidney disease (8), kidney disease (7), leber congenital amaurosis 8 (4), leber congenital amaurosis (3), retinitis pigmentosa (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.59 RPKM in Brain - Amygdala
Total median expression: 45.81 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -21.0064-0.328 Picture PostScript Text
3' UTR -752.601691-0.445 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008985 - ConA-like_lec_gl_sf
IPR013320 - ConA-like_subgrp
IPR000742 - EG-like_dom
IPR001881 - EGF-like_Ca-bd
IPR013032 - EGF-like_CS
IPR000152 - EGF-type_Asp/Asn_hydroxyl_site
IPR018097 - EGF_Ca-bd_CS
IPR001791 - Laminin_G

Pfam Domains:
PF00008 - EGF-like domain
PF02210 - Laminin G domain
PF07645 - Calcium-binding EGF domain
PF12661 - Human growth factor-like EGF

SCOP Domains:
49899 - Concanavalin A-like lectins/glucanases
57196 - EGF/Laminin
57184 - Growth factor receptor domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2WO6 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q5IJ48
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0019899 enzyme binding
GO:0019828 aspartic-type endopeptidase inhibitor activity

Biological Process:
GO:0001707 mesoderm formation
GO:0001756 somitogenesis
GO:0007275 multicellular organism development
GO:0007369 gastrulation
GO:0010470 regulation of gastrulation
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0010951 negative regulation of endopeptidase activity
GO:0014028 notochord formation
GO:0030513 positive regulation of BMP signaling pathway
GO:0045199 maintenance of epithelial cell apical/basal polarity
GO:0055111 ingression involved in gastrulation with mouth forming second
GO:0072358 cardiovascular system development

Cellular Component:
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0032991 macromolecular complex
GO:0045121 membrane raft
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AK123000 - Homo sapiens cDNA FLJ16786 fis, clone NT2RI3009524.
DQ426866 - Homo sapiens crumbs-like protein 2 (CRB2) mRNA, partial cds.
AY720432 - Homo sapiens crumbs-like protein 2 precursor (CRB2) mRNA, complete cds.
AK126775 - Homo sapiens cDNA FLJ44823 fis, clone BRACE3046466, weakly similar to Crumbs protein homolog 1 precursor.
AK095783 - Homo sapiens cDNA FLJ38464 fis, clone FEBRA2021171.
JD206274 - Sequence 187298 from Patent EP1572962.
JD374009 - Sequence 355033 from Patent EP1572962.
AK124819 - Homo sapiens cDNA FLJ42829 fis, clone BRCAN2017717.
JD266947 - Sequence 247971 from Patent EP1572962.
JD232923 - Sequence 213947 from Patent EP1572962.
JD144968 - Sequence 125992 from Patent EP1572962.
JD427838 - Sequence 408862 from Patent EP1572962.
JD280682 - Sequence 261706 from Patent EP1572962.
JD188157 - Sequence 169181 from Patent EP1572962.
JD170353 - Sequence 151377 from Patent EP1572962.
JD068126 - Sequence 49150 from Patent EP1572962.
JD181165 - Sequence 162189 from Patent EP1572962.
JD138984 - Sequence 120008 from Patent EP1572962.
JD186377 - Sequence 167401 from Patent EP1572962.
JD121836 - Sequence 102860 from Patent EP1572962.
JD359094 - Sequence 340118 from Patent EP1572962.
JD240019 - Sequence 221043 from Patent EP1572962.
JD232578 - Sequence 213602 from Patent EP1572962.
JD277454 - Sequence 258478 from Patent EP1572962.
JD482257 - Sequence 463281 from Patent EP1572962.
JD133850 - Sequence 114874 from Patent EP1572962.
JD402416 - Sequence 383440 from Patent EP1572962.
JD163905 - Sequence 144929 from Patent EP1572962.
JD521044 - Sequence 502068 from Patent EP1572962.
JD546163 - Sequence 527187 from Patent EP1572962.
JD390828 - Sequence 371852 from Patent EP1572962.
JD140813 - Sequence 121837 from Patent EP1572962.
JD065820 - Sequence 46844 from Patent EP1572962.
JD368727 - Sequence 349751 from Patent EP1572962.
JD554186 - Sequence 535210 from Patent EP1572962.
JD288381 - Sequence 269405 from Patent EP1572962.
JD118855 - Sequence 99879 from Patent EP1572962.
JD195955 - Sequence 176979 from Patent EP1572962.
JD182065 - Sequence 163089 from Patent EP1572962.
JD343835 - Sequence 324859 from Patent EP1572962.
JD435850 - Sequence 416874 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A2A3N4, CRB2 , CRUM2_HUMAN, ENST00000373631.1, ENST00000373631.2, ENST00000373631.3, ENST00000373631.4, ENST00000373631.5, ENST00000373631.6, ENST00000373631.7, NM_173689, Q0QD46, Q5IJ48, Q5JS41, Q5JS43, Q6ZTA9, Q6ZWI6, uc318kxz.1, uc318kxz.2
UCSC ID: ENST00000373631.8_4
RefSeq Accession: NM_173689.7
Protein: Q5IJ48 (aka CRUM2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.