Gene
CRB2
crumbs cell polarity complex component 2
- HGNC 18688↗(opens in a new tab)
- Ensembl gene ENSG00000148204↗(opens in a new tab)
- NCBI Gene 286204↗(opens in a new tab)
Summary
- Cytogenetic location
- 9q33.3
- Coordinates
- Chromosome 9: 123,356,197–123,378,753 (GRCh38)
- Exons
- 13 exons across 22.6 kb
- Protein
- 1,285 amino acids
- Also known as
- FLJ38464, FLJ16786
- MANE Select transcript
- ENST00000373631.8NM_173689.7
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Focal Segmental Glomerulosclerosis
A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure.
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
Glomerulosclerosis
A hardening of the kidney glomerulus caused by scarring of the blood vessels.
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
How CRB2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.6 kb of the gene's 22.6 kb; 3,858 of those bases code for the protein.
How a genome test reads CRB2
23
positions in CRB2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 22.6 kb of CRB2, introns included, not only the 5.6 kb of exons.
Genes linked to the same conditions
- ACTN4actinin alpha 4Shares 2 conditions
- ANLNanillin, actin binding proteinShares 2 conditions
- FAT1FAT atypical cadherin 1Shares 2 conditions
- INF2inverted formin 2Shares 2 conditions
- MYO1Emyosin IEShares 2 conditions
- PAX2paired box 2Shares 2 conditions
- TRPC6transient receptor potential cation channel subfamily C member 6Shares 2 conditions
Traits linked to CRB2
The Human Phenotype Ontology lists these as features of the rare conditions CRB2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the genitourinary system
- Focal segmental glomerulosclerosis
- Steroid-resistant nephrotic syndrome
- Chronic kidney disease
- Hyperechogenic kidneys
- Renal corticomedullary cysts
- Stage 5 chronic kidney disease
- Diffuse mesangial sclerosis
- Minimal change glomerulonephritis
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). CRB2 gene: crumbs cell polarity complex component 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/crb2
Dante Labs. CRB2 gene: crumbs cell polarity complex component 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/crb2
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