CRB2 - crumbs cell polarity complex component 2 Gene

Homo sapiens

Also known as FSGS9; VMCKD

Gene ID: 286204 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in negative regulation of endopeptidase activity	IMP IMP: Inferred from mutant phenotype	20299451	GOA

Cellular Component GO Annotation	Evidence	Reference	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

Bioactive Molecules (1)

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

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