OCLN
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
OCLN (HGNC:8104) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
occludin
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
PPP1R115
%HI
18.94(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.02(Read more about gnomAD pLI score)
LOEUF
0.73(Read more about gnomAD LOEUF score)
Cytoband
5q13.2
Genomic Coordinates
GRCh37/hg19: chr5:68788374-68853931 NCBI Ensembl UCSC
GRCh38/hg38: chr5:69492547-69558104 NCBI Ensembl UCSC
MANE Select Transcript
NM_001205254.2 ENST00000396442.7 (Read more about MANE Select)
Function
May play a role in the formation and regulation of the tight junction (TJ) paracellular permeability barrier. It is able to induce adhesion when expressed in cells lacking tight junctions. {ECO:0000269|PubMed:19114660}. (Microbial infection) Acts as a coreceptor for hepatitis C virus (HCV) in hepatocytes. {ECO:0000269|PubMed:19182773, ECO:0000269|PubMed:20375010}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-24476
ClinGen Curation ID:
CCID:007591
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000005.9) (NC_000005.10)