CRB2
Protein crumbs homolog 2
Also known as: CRUM2_HUMAN, FLJ16786, FLJ38464
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q5IJ48
- Gene
- CRB2
- Ensembl
- ENSG00000148204
- Chromosome
- 9
- Canonical length
- 1285 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
This gene encodes a member of a family of proteins that are components of the Crumbs cell polarity complex. In mammals, members of this family are thought to play a role in many cellular processes in early embryonic development. A similar protein in Drosophila determines apicobasal polarity in embryonic epithelial cells. Mutations in this gene are associated with focal segmental glomerulosclerosis 9, and with ventriculomegaly with cystic kidney disease. [provided by RefSeq, Aug 2016]
Canonical amino-acid sequenceUniProt
1285 residues, UniProt reviewed canonical sequence.
>Q5IJ48|CRB2
1 MALARPGTPD PQALASVLLL LLWAPALSLL AGTVPSEPPS ACASDPCAPG TECQATESGG
61 YTCGPMEPRG CATQPCHHGA LCVPQGPDPT GFRCYCVPGF QGPRCELDID ECASRPCHHG
121 ATCRNLADRY ECHCPLGYAG VTCEMEVDEC ASAPCLHGGS CLDGVGSFRC VCAPGYGGTR
181 CQLDLDECQS QPCAHGGTCH DLVNGFRCDC AGTGYEGTHC EREVLECASA PCEHNASCLE
241 GLGSFRCLCW PGYSGELCEV DEDECASSPC QHGGRCLQRS DPALYGGVQA AFPGAFSFRH
301 AAGFLCHCPP GFEGADCGVE VDECASRPCL NGGHCQDLPN GFQCHCPDGY AGPTCEEDVD
361 ECLSDPCLHG GTCSDTVAGY ICRCPETWGG RDCSVQLTGC QGHTCPLAAT CIPIFESGVH
421 SYVCHCPPGT HGPFCGQNTT FSVMAGSPIQ ASVPAGGPLG LALRFRTTLP AGTLATRNDT
481 KESLELALVA ATLQATLWSY STTVLVLRLP DLALNDGHWH QVEVVLHLAT LELRLWHEGC
541 PARLCVASGP VALASTASAT PLPAGISSAQ LGDATFAGCL QDVRVDGHLL LPEDLGENVL
601 LGCERREQCR PLPCVHGGSC VDLWTHFRCD CARPHRGPTC ADEIPAATFG LGGAPSSASF
661 LLQELPGPNL TVSFLLRTRE SAGLLLQFAN DSAAGLTVFL SEGRIRAEVP GSPAVVLPGR
721 WDDGLRHLVM LSFGPDQLQD LGQHVHVGGR LLAADSQPWG GPFRGCLQDL RLDGCHLPFF
781 PLPLDNSSQP SELGGRQSWN LTAGCVSEDM CSPDPCFNGG TCLVTWNDFH CTCPANFTGP
841 TCAQQLWCPG QPCLPPATCE EVPDGFVCVA EATFREGPPA AFSGHNASSG RLLGGLSLAF
901 RTRDSEAWLL RAAAGALEGV WLAVRNGSLA GGVRGGHGLP GAVLPIPGPR VADGAWHRVR
961 LAMERPAATT SRWLLWLDGA ATPVALRGLA SDLGFLQGPG AVRILLAENF TGCLGRVALG
1021 GLPLPLARPR PGAAPGAREH FASWPGTPAP ILGCRGAPVC APSPCLHDGA CRDLFDAFAC
1081 ACGPGWEGPR CEAHVDPCHS APCARGRCHT HPDGRFECRC PPGFGGPRCR LPVPSKECSL
1141 NVTCLDGSPC EGGSPAANCS CLEGLAGQRC QVPTLPCEAN PCLNGGTCRA AGGVSECICN
1201 ARFSGQFCEV AKGLPLPLPF PLLEVAVPAA CACLLLLLLG LLSGILAARK RRQSEGTYSP
1261 SQQEVAGARL EMDSVLKVPP EERLILocalizationUniProt · AlphaFold · HPA
Whether an antibody against CRB2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.36
- Highest tissue expression
- 7.5 nTPM
Expression across tissuesHPA
Tissue
- retina: 7.5 nTPM
- amygdala: 6.8 nTPM
- basal ganglia: 6.8 nTPM
- cerebral cortex: 6.4 nTPM
- hippocampal formation: 6 nTPM
- kidney: 5.3 nTPM
Single-cell type
- podocytes: 161 nCPM
- ependymal cells: 103 nCPM
- rod photoreceptor cells: 95 nCPM
- bergmann glia: 75 nCPM
- astrocytes: 68 nCPM
- cone photoreceptor cells: 50 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- thalamus: 64 nTPM
- medulla oblongata: 62 nTPM
- spinal cord: 59 nTPM
- white matter: 58 nTPM
- basal ganglia: 56 nTPM
- midbrain: 55 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CRB2.
Disease | AllUniProt
Conditions CRB2 is implicated in, by any mechanism.
- Focal segmental glomerulosclerosis 9 (FSGS9) MIM:616220
- Retinitis pigmentosa (RP) MIM:268000
- Ventriculomegaly with cystic kidney disease (VMCKD) MIM:219730
Disease | GeneticClinVar
45 pathogenic / likely-pathogenic of 861 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Focal segmental glomerulosclerosis 9
- Ventriculomegaly-cystic kidney disease
- CRB2-related disorder
- Inborn genetic diseases
- Steroid-resistant nephrotic syndrome
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.89
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.11
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- circulatory system development
- establishment of cell polarity
- establishment or maintenance of epithelial cell apical/basal polarity
- heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules
- maintenance of epithelial cell apical/basal polarity
- mesoderm formation
- negative regulation of endopeptidase activity
- notochord formation
- photoreceptor cell maintenance
- positive regulation of BMP signaling pathway
- positive regulation of epithelial to mesenchymal transition
- regulation of gastrulation
- retina homeostasis
- retinal cone cell development
- somitogenesis
- visual perception
- ingression involved in gastrulation with mouth forming second
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CRB2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CRB2 as an antibody target. Whether an autoantibody or antibody against CRB2 could matter depends on whether native CRB2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CRB2 is annotated at the cell surface, where native CRB2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label CRB2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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