CRB2 (crumbs cell polarity complex component 2)

2014-03-01 Affiliation

Identity

HGNC

CRB2

LOCATION

9q33.3

LOCUSID

286204

ALIAS

FSGS9,VMCKD

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 286204
MIM: 609720
HGNC: 18688
Ensembl: ENSG00000148204

Variants:

dbSNP: 286204
ClinVar: 286204
TCGA: ENSG00000148204
COSMIC: CRB2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000148204	ENST00000359999	Q5IJ48
ENSG00000148204	ENST00000373631	Q5IJ48
ENSG00000148204	ENST00000460253	Q5IJ48

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Hippo signaling pathway	KEGG	hsa04390
Hippo signaling pathway	KEGG	ko04390

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
38570189	2024	Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina.	1
38570189	2024	Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina.	1
36549870	2023	Loss of surface transport is a main cellular pathomechanism of CRB2 variants causing podocytopathies.	0
36803301	2023	Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.	2
36549870	2023	Loss of surface transport is a main cellular pathomechanism of CRB2 variants causing podocytopathies.	0
36803301	2023	Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.	2
35219647	2022	CRB2 enhances malignancy of glioblastoma via activation of the NF-κB pathway.	3
36556986	2022	Exome Sequencing Revealed a Novel Splice Site Variant in the CRB2 Gene Underlying Nephrotic Syndrome.	0
35219647	2022	CRB2 enhances malignancy of glioblastoma via activation of the NF-κB pathway.	3
36556986	2022	Exome Sequencing Revealed a Novel Splice Site Variant in the CRB2 Gene Underlying Nephrotic Syndrome.	0
34654837	2021	Podocyte-specific Crb2 knockout mice develop focal segmental glomerulosclerosis.	6
34654837	2021	Podocyte-specific Crb2 knockout mice develop focal segmental glomerulosclerosis.	6
30593785	2019	CRB2 mutation causes autosomal recessive retinitis pigmentosa.	13
30956116	2019	Human iPSC-Derived Retinas Recapitulate the Fetal CRB1 CRB2 Complex Formation and Demonstrate that Photoreceptors and Müller Glia Are Targets of AAV5.	46
30593785	2019	CRB2 mutation causes autosomal recessive retinitis pigmentosa.	13

Citation

Dessen P

CRB2 (crumbs cell polarity complex component 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-03-01

Online version: http://atlasgeneticsoncology.org/gene/53813/gene-fusions-explorer/css/lib/gene-explorer/