OCLN Chromosome 5
Occludin
Upload your DNA to see your personal genotypes for variants in OCLN.
What This Gene Does
This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. [provided by RefSeq, Apr 2011]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|Tetraspan junctional complex superfamily|MARVEL domain containing"
Locus Type
gene with protein product
Location
5q13.2
Ensembl
ENSG00000197822
Associated Conditions (3)
Pseudo-TORCH syndrome 1
OCLN-related disorder
Inborn genetic diseases
Key Variants
RS139928771
Conflicting classifications of pathogenicity
Health Risk
RS150730577
Conflicting classifications of pathogenicity
Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1
Health Risk
RS28562785
Conflicting classifications of pathogenicity
Pseudo-TORCH syndrome 1, OCLN-related disorder, Pseudo-TORCH syndrome 1
Health Risk
RS373344533
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS767324023
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS797045841
Conflicting classifications of pathogenicity
Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1
Health Risk
RS898963712
Conflicting classifications of pathogenicity
Health Risk
RS1472215562
Likely pathogenic
Health Risk
RS1580547770
Likely pathogenic
Health Risk
RS1580547828
Likely pathogenic
Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1
Health Risk
RS1580554633
Likely pathogenic
Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1
Health Risk
RS1769684609
Likely pathogenic
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139928771 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150730577 | Health Risk | Conflicting classifications of pathogenicity | Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1 |
| RS28562785 | Health Risk | Conflicting classifications of pathogenicity | Pseudo-TORCH syndrome 1, OCLN-related disorder, Pseudo-TORCH syndrome 1 |
| RS373344533 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767324023 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS797045841 | Health Risk | Conflicting classifications of pathogenicity | Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1 |
| RS898963712 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1472215562 | Health Risk | Likely pathogenic | — |
| RS1580547770 | Health Risk | Likely pathogenic | — |
| RS1580547828 | Health Risk | Likely pathogenic | Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1 |
| RS1580554633 | Health Risk | Likely pathogenic | Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1 |
| RS1769684609 | Health Risk | Likely pathogenic | — |
| RS2531123144 | Health Risk | Likely pathogenic | Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1 |
| RS2531217950 | Health Risk | Likely pathogenic | Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1 |
| RS2531231205 | Health Risk | Likely pathogenic | Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1 |
| RS863225128 | Health Risk | Likely pathogenic | Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1 |
| RS1303392945 | Health Risk | Pathogenic | — |
| RS1309465358 | Health Risk | Pathogenic | — |
| RS1390469424 | Health Risk | Pathogenic | Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1 |
| RS1561334604 | Health Risk | Pathogenic | Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1 |
| RS2531106977 | Health Risk | Pathogenic | — |
| RS267606926 | Health Risk | Pathogenic | Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1 |
| RS373915080 | Health Risk | Pathogenic | Pseudo-TORCH syndrome 1, OCLN-related disorder, Pseudo-TORCH syndrome 1 |
| RS749237456 | Health Risk | Pathogenic | Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1 |
| RS759507153 | Health Risk | Pathogenic | Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1 |
| RS797045840 | Health Risk | Pathogenic | Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1 |
| RS748442113 | Health Risk | Pathogenic/Likely pathogenic | Pseudo-TORCH syndrome 1, Pseudo-TORCH syndrome 1 |