CRB2 - crumbs cell polarity complex component 2 Gene

Also Known as FSGS9; VMCKD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 286204

About CRB2

Cytogenetic location: 9q33.3 Genomic coordinates (GRCh38): 9:123,354,065-123,380,326 (from NCBI)

This gene has 3 transcripts (splice variants), 234 orthologues, 3 paralogues and is associated with 6 phenotypes. Broad expression in brain (RPKM 3.7), kidney (RPKM 3.4) and 23 other tissues.

Summary

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]

CRB2 Products (1)

mRNA	Protein	Name
NM_173689.7	NP_775960.4	protein crumbs homolog 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables aspartic-type endopeptidase inhibitor activity	IMP IMP: Inferred from mutant phenotype	20299451	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17920587	GOA
enables protein-containing complex binding	IMP IMP: Inferred from mutant phenotype	20299451	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of endopeptidase activity	IMP IMP: Inferred from mutant phenotype	20299451	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of protein-containing complex	IDA IDA: Inferred from direct assay	20299451	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CRB2 Protein Structure

EGF

hEGF

EGF

Laminin_G_2

EGF

Laminin_G_2

EGF

0
200
400
600
800
1000
1200
1285 a.a.

Protein Preferred Names	Protein Names
protein crumbs homolog 2	crumbs 2, cell polarity complex component

Related Diseases

Diseases	Alias
Ventriculomegaly With Cystic Kidney Disease	VMCKD Cystic Kidney Disease With Ventriculomegaly Ventriculomegaly-Cystic Kidney Disease Ventriculomegaly - Cystic Kidney Disease Congenital Nephrosis-Cerebral Ventriculomegaly Syndrome
Focal Segmental Glomerulosclerosis 9	FSGS9 Glomerulosclerosis, Focal Segmental, 9 Glomerulosclerosis, Focal Segmental, Type 9
Genetic Steroid-Resistant Nephrotic Syndrome	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Genetic Srns Hereditary Steroid-Resistant Nephrotic Syndrome Familial Idiopathic Nephrotic Syndrome Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive Srn1
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Focal Segmental Glomerulosclerosis	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Focal Glomerulosclerosis Fsgs Segmental Glomerulosclerosis Glomerulosclerosis, Focal Segmental Fgs Focal Glomerular Sclerosis Familial Idiopathic Nephrotic Syndrome Focal Sclerosis With Hyalinosis Glomerulosclerosis, Focal Glomerulosclerosis Focal Glomerulosclerosis, Segmental, Focal Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
Retinitis Pigmentosa 12	RP12 Retinitis Pigmentosa With Or Without Paraarteriolar Preservation Of Retinal Pigment Epithelium Rp With Or Without Preserved Paraarteriole Retinal Pigment Epithelium Rp With Or Without Pprpe Retinitis Pigmentosa-12
Leber Congenital Amaurosis 8	LCA8 Leber Congenital Amaurosis, Type 8
Focal Segmental Glomerulosclerosis 8	FSGS8 Glomerulosclerosis, Focal Segmental, 8 Glomerulosclerosis, Focal Segmental, Type 8
Thyroid Dyshormonogenesis 6	TDH6 Genetic Defect In Thyroid Hormonogenesis 6 Thyroid Hormonogenesis, Genetic Defect In, 6 Hypothyroidism, Congenital, Due To Dyshormonogenesis, 6 Chdh6 Congenital Hypothyroidism Due To Dyshormonogenesis Type 6
Mitochondrial Dna Depletion Syndrome 2	Mitochondrial Dna Depletion Syndrome, Myopathic Form MTDPS2 Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form Mitochondrial Dna Depletion Myopathy, Tk2-Related Tk2-Related Mitochondrial Dna Depletion Myopathy Mtdna Depletion Syndrome, Myopathic Form Mitochondrial Dna Depletion Myopathy Tk2-Related Mitochondrial Dna Depletion Syndrome 2 Myopathic Type Myopathic Mitochondrial Dna Depletion Syndrome Mitochondrial Dna Depletion Syndrome, Type 2
Focal Segmental Glomerulosclerosis 6	FSGS6 Glomerulosclerosis, Focal Segmental, 6 Glomerulosclerosis, Segmental, Focal, Type 6
Meier-Gorlin Syndrome 1	Meier-Gorlin Syndrome Ear, Patella, Short Stature Syndrome Microtia, Absent Patellae, Micrognathia Syndrome MGORS1 Eps Ear-Patella-Short Stature Syndrome Ear Patella Short Stature Syndrome Microtia Absent Patellae Micrognathia Syndrome Meier-Gorlin Syndrome, Type 1
Focal Segmental Glomerulosclerosis 7	FSGS7 Glomerulosclerosis, Focal Segmental, 7 Glomerulosclerosis, Focal Segmental, Type 7
Focal Segmental Glomerulosclerosis 2	FSGS2 Glomerulosclerosis, Focal Segmental, 2 Glomerulosclerosis, Segmental, Focal, Type 2
Focal Segmental Glomerulosclerosis 5	FSGS5 Glomerulosclerosis, Focal Segmental, 5 Glomerulosclerosis, Segmental, Focal, Type 5
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
End Stage Renal Disease	End Stage Renal Failure End-Stage Kidney Disease Kidney Failure, Chronic Chronic Kidney Disease Stage 5
Nephrotic Syndrome, Type 1	Finnish Congenital Nephrosis NPHS1 Cnf Finnish Congenital Nephrotic Syndrome Nephrotic Syndrome Type 1 Nephrosis, Congenital Congenital Nephrotic Syndrome Nephrotic Syndrome, Congenital Congenital Nephrotic Syndrome Finnish Type Congenital Nephrotic Syndrome 1 Nephrosis 1, Congenital, Finnish Type Congenital Nephrotic Syndrome, Finnish Type Nephrotic Syndrome 1 Congenital Nephrotic Syndrome Of The Finnish Type
Familial Nephrotic Syndrome	Congenital Nephrotic Syndrome Nephrosis, Congenital Finnish Congenital Nephrotic Syndrome
Familial Thyroid Dyshormonogenesis	Thyroid Dyshormonogenesis Familial Dyshormonogenetic Goiter
Optic Disk Drusen	Optic Disc Drusen Drusen Of Optic Disc Optic Nerve Head Drusen Drusen Optic Disc
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Galloway-Mowat Syndrome	Galloway Mowat Syndrome Galloway Syndrome Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type Microcephaly Nephrosis Syndrome Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Nephrosis Neuronal Dysmigration Syndrome Microcephaly-Hiatus Hernia-Nephrotic Syndrome Nephrosis-Neuronal Dysmigration Syndrome
Nanophthalmos	Nanophthalmia
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03141	CRB2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CRB2	MGD	MGI:2679260
Felis catus	CRB2	VGNC	VGNC:61161
Macaca mulatta	CRB2	VGNC	VGNC:71435
Rattus norvegicus	CRB2	RGD	RGD:1309368
Bos taurus	CRB2	VGNC	VGNC:27689