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FLASH GENE

Symbol

CRB2

contributors: mct - updated : 29-05-2014

HGNC name	crumbs homolog 2 (Drosophila)
HGNC id	18688

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SRN5 steroid-resistant nephrotic syndrome 5
Location	9q33.2      Physical location : 126.118.447 - 126.141.032
Synonym name	Crumbs-like protein 2
Synonym symbol(s)	FLJ16786, FLJ38464

DNA

TYPE	functioning gene
STRUCTURE	22.59 kb     13 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - CRB2 - DENND1A - LHX2 - NEK6 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_173689 13 - 5641 NP_775960 - 1285 retina, brain, kidney 2015 25557779 transmembrane variant 2 - - 3652 isoform 2 - 1176 - 2015 25557779 exon 1-10 and intron 10, extracellular secreted protein

EXPRESSION

Type

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Homo sapiens Nervous brain       predominantly Homo sapiens Adult   brain         Homo sapiens Fetal Reproductive female system placenta       Homo sapiens Respiratory lung         Homo sapiens Urinary kidney nephron renal capsule glomerulus highly Rattus norvegicus   kidney         Homo sapiens Fetal Visual eye retina       Homo sapiens Fetal

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining retinal pigment epithelium (RPE)     Homo sapiens Fetal

cells

System Cell Pubmed Species Stage Rna symbol Urinary podocyte Rattus norvegicus Visual Muller cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	15 extracellular EGF-like domains and 3 extracellular laminin G-like domains, and tenth EGF-like domain might play an important role in CRB2 function in podocytes
	the Crb cytoplasmic tail domain, CCT domain, functioning as the binding site for PDZ domain of Sdt homologs
	a short 37 AAs intracellular C-terminus containing single-FERM and -PDZ protein-binding motifs, and a BRCT domain

HOMOLOGY

intraspecies

homolog to CRB1

Homologene

FAMILY

Crumbs protein family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane

basic FUNCTION	may play a role during CNS development
	functions potentially as an inhibitory binding protein that is involved in the formation of a mature but inactive pool of the gamma-secretase complex
	essential for survival and differentiation of ESC-derived neural progenitors
	essential role for CRB2 in proper lamination of the photoreceptor layer and suppression of proliferation of late-born retinal progenitor cells
	potential role for CRB2 in suppressing proliferation of late retinal progenitors
	plays important roles in maintaining the adhesion, structural integrity, cell polarity, photoreceptor lamination, as well as controlling the differentiation of appropriate numbers of Müller glia cells
	inhibits retinal progenitor proliferation in the late developing retina
	CRB1 and CRB2 suppress late progenitor pool expansion by regulating multiple proliferative signaling pathways

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

binding of the CRB2 BRCT repeats to H2AFX is critical for checkpoint activity and provide new insight into the mechanisms of chromatin-mediated genome stability

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SRN5

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in cerebral, renal, and cardiac malformations (

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	deletion of Crb2 in the murine retina results in early retinal disorganization leading to severe and progressive retinal degeneration with a concomitant visual loss that mimics retinitis pigmentosa due to mutations in the CRB1 gene
	severe abnormalities appearing in Crb2-deficient mice embryos at late-gastrulation