Aliases for OCLN Gene
Aliases for OCLN Gene
External Ids for OCLN Gene
- HGNC: 8104
- Entrez Gene: 100506658
- Ensembl: ENSG00000197822
- OMIM: 602876
- UniProtKB: Q16625
Previous GeneCards Identifiers for OCLN Gene
- GC05P068940
- GC05P070353
- GC05P068803
- GC05P068823
- GC05P068788
- GC05P065744
Summaries for OCLN Gene
-
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]
GeneCards Summary for OCLN Gene
OCLN (Occludin) is a Protein Coding gene. Diseases associated with OCLN include Pseudo-Torch Syndrome 1 and Congenital Intrauterine Infection-Like Syndrome. Among its related pathways are Development Slit-Robo signaling and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways. Gene Ontology (GO) annotations related to this gene include structural molecule activity and S-adenosylmethionine-dependent methyltransferase activity.
UniProtKB/Swiss-Prot for OCLN Gene
-
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.
Additional gene information for OCLN Gene
- Monarch Initiative
- Search for OCLN at DataMed
- Search for OCLN at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OCLN Gene
Genomics for OCLN Gene
GeneHancer (GH) Regulatory Elements for OCLN Gene
Promoters and enhancers for OCLN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around OCLN on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for OCLN Gene
Genomic Locations for OCLN Gene
- chr5:69,492,292-69,558,104
- (GRCh38/hg38)
- Size:
- 65,813 bases
- Orientation:
- Plus strand
- chr5:68,788,119-68,853,931
- (GRCh37/hg19)
Genomic View for OCLN Gene
Genes around OCLN on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q13.2 by Ensembl
- 5q13.2 by Entrez Gene
- 5q13.2 by HGNC
OCLN Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for OCLN Gene
Proteins for OCLN Gene
-
Protein details for OCLN Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q16625-OCLN_HUMAN
- Recommended name:
- Occludin
- Protein Accession:
- Q16625
- B5BU70
- D2DU64
- D2DU65
- D2IGC0
- D2IGC1
- E2CYV9
- Q5U1V4
- Q8N6K1
Protein attributes for OCLN Gene
- Size:
- 522 amino acids
- Molecular mass:
- 59144 Da
- Quaternary structure:
-
- Interacts with TJP1/ZO1 (PubMed:19017651). Interacts with VAPA (PubMed:10523508). Interacts with CLDN1, CLDN6, CLDN9, CLDN11, CLDN12 and CLDN17 (PubMed:20375010).
Protein Expression for OCLN Gene
Post-translational modifications for OCLN Gene
- Dephosphorylated by PTPRJ. The tyrosine phosphorylation on Tyr-398 and Tyr-402 reduces its ability to interact with TJP1. Phosphorylation at Ser-490 also attenuates the interaction with TJP1.
- Ubiquitination at Lys276, isoforms=3, 4283, and isoforms=3, 4299
Other Protein References for OCLN Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for OCLN (Occludin)
-
Custom Antibody ServicesOriGene Antibodies for OCLN
- Novus Biologicals Antibodies for OCLN
-
Abcam antibodies for OCLN
-
Cloud-Clone Corp. Antibodies for OCLN
- Invitrogen Antibodies for OCLN
- GeneTex OCLN antibody for OCLN
-
Custom Antibody ServicesProSci Antibodies for OCLN
-
Santa Cruz Biotechnology (SCBT) Antibodies for OCLN
- Sino Biological Antibodies for OCLN
Protein Products
-
OriGene Purified Proteins for OCLN
- Search Origene for MassSpec and Protein Over-expression Lysates for OCLN
- Origene Custom Protein Services for OCLN
-
Cloud-Clone Corp. Proteins for OCLN
- Search GeneTex for Proteins for OCLN
-
Abcam proteins for OCLN
Assay Products
-
Cloud-Clone Corp. Assay Kits for OCLN
No data available for DME Specific Peptides for OCLN Gene
Domains & Families for OCLN Gene
Gene Families for OCLN Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted membrane proteins
- Predicted secreted proteins
- Transporters
Protein Domains for OCLN Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for OCLN Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q16625UniProtKB/Swiss-Prot:
OCLN_HUMAN :- The C-terminal is cytoplasmic and is important for interaction with ZO-1. Sufficient for the tight junction localization. Involved in the regulation of the permeability barrier function of the tight junction (By similarity). The first extracellular loop participates in an adhesive interaction.
- Belongs to the ELL/occludin family.
- Domain:
-
- The C-terminal is cytoplasmic and is important for interaction with ZO-1. Sufficient for the tight junction localization. Involved in the regulation of the permeability barrier function of the tight junction (By similarity). The first extracellular loop participates in an adhesive interaction.
- Family:
-
- Belongs to the ELL/occludin family.
Function for OCLN Gene
Molecular function for OCLN Gene
- GENATLAS Biochemistry:
- occludin,60kDa,integral membrane at tight junctions of epithelial cells,highly expressed in testis,kidney,liver,lung,brain,involved in the barrier and fence function of TJ,accessory protein in TJ strands formation
- UniProtKB/Swiss-Prot 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.
Phenotypes From GWAS Catalog for OCLN Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16616143 |
| GO:0019904 | protein domain specific binding | IPI | 20164257 |
Phenotypes for OCLN Gene
- MGI mutant phenotypes for OCLN:
-
inferred from 4 alleles
- nervous system phenotype
- homeostasis/metabolism phenotype
- muscle phenotype
- immune system phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- skeleton phenotype
- limbs/digits/tail phenotype
- GenomeRNAi human phenotypes for OCLN:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for OCLN gene
-
ViGene Biosciences ready-to-package AAV shRNAs for OCLN gene
- Search ViGene Biosciences for OCLN
CRISPR Products
-
OriGene CRISPR knockouts for OCLN
- genomics-online: gRNA clones - Search results for 114 available Occludin gene related products
- Overview of 114 available Occludin gene related products
- Applied Biological Materials CRISPR for OCLN
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for OCLN
- GenScript: Design CRISPR guide RNA sequences for OCLN
miRNA for OCLN Gene
- miRTarBase miRNAs that target OCLN
-
- hsa-mir-335-5p (MIRT018585)
- hsa-let-7e-5p (MIRT051654)
- hsa-let-7b-5p (MIRT052167)
- hsa-mir-340-5p (MIRT314176)
- hsa-mir-548t-5p (MIRT314178)
- hsa-mir-3148 (MIRT314179)
- hsa-mir-3609 (MIRT314180)
- hsa-mir-548ah-5p (MIRT314181)
- hsa-mir-4491 (MIRT314182)
- hsa-mir-4657 (MIRT314183)
- hsa-mir-548az-5p (MIRT314184)
- hsa-mir-6833-5p (MIRT314185)
- hsa-mir-8062 (MIRT314186)
- hsa-mir-1295a (MIRT540350)
- hsa-mir-5704 (MIRT540351)
- hsa-mir-3941 (MIRT540352)
- hsa-mir-216b-3p (MIRT540353)
- hsa-mir-15a-3p (MIRT540354)
- hsa-mir-4717-5p (MIRT540355)
- hsa-mir-603 (MIRT540356)
- hsa-mir-362-3p (MIRT540357)
- hsa-mir-329-3p (MIRT540358)
- hsa-mir-8485 (MIRT540359)
- hsa-mir-576-3p (MIRT555919)
- hsa-mir-3190-3p (MIRT555920)
- hsa-mir-6124 (MIRT555921)
- hsa-mir-299-3p (MIRT555922)
- hsa-mir-212-3p (MIRT555923)
- hsa-mir-132-3p (MIRT555924)
- hsa-mir-5692a (MIRT555925)
- hsa-mir-4755-3p (MIRT619586)
- hsa-mir-301a-5p (MIRT764418)
- hsa-mir-301b-5p (MIRT764436)
- hsa-mir-345-5p (MIRT765756)
- hsa-mir-4293 (MIRT768435)
- hsa-mir-4305 (MIRT768508)
- hsa-mir-4433a-3p (MIRT769022)
- hsa-mir-4434 (MIRT769098)
- hsa-mir-4459 (MIRT769310)
- hsa-mir-4516 (MIRT769931)
- hsa-mir-4531 (MIRT770074)
- hsa-mir-4768-3p (MIRT772112)
- hsa-mir-4777-5p (MIRT772234)
- hsa-mir-4786-5p (MIRT772309)
- hsa-mir-4802-3p (MIRT772554)
- hsa-mir-518d-5p (MIRT773593)
- hsa-mir-518e-5p (MIRT773596)
- hsa-mir-518f-5p (MIRT773599)
- hsa-mir-519a-5p (MIRT773687)
- hsa-mir-519b-5p (MIRT773701)
- hsa-mir-519c-5p (MIRT773715)
- hsa-mir-520c-5p (MIRT773796)
- hsa-mir-522-5p (MIRT773894)
- hsa-mir-523-5p (MIRT773897)
- hsa-mir-526a (MIRT773910)
- hsa-mir-5703 (MIRT775225)
- hsa-mir-6771-3p (MIRT778635)
- hsa-mir-6849-3p (MIRT780313)
- hsa-mir-1228-5p (MIRT790052)
- hsa-mir-1285-3p (MIRT790083)
- hsa-mir-3187-5p (MIRT790258)
- hsa-mir-378g (MIRT790357)
- hsa-mir-4314 (MIRT790423)
- hsa-mir-4486 (MIRT790479)
- hsa-mir-5189-5p (MIRT790707)
- hsa-mir-5579-5p (MIRT790757)
- hsa-mir-612 (MIRT790824)
- hsa-mir-6860 (MIRT791048)
miRNA Products
- Search ViGene Biosciences for OCLN
Inhibitory RNA Products
- Origene RNAi, shrna, and sirna products in human, mouse, rat for OCLN
- Browse OriGene Inhibitory RNA Products For OCLN
- genomics-online: shRNA clones - Search results for 114 available Occludin gene related products
- Overview of 114 available Occludin gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for OCLN gene
Clone Products
- Sino Biological Human cDNA Clone for OCLN
- Addgene plasmids for OCLN
- Applied Biological Materials Clones for OCLN
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for OCLN (Occludin)
Cell Line Products
-
Horizon Cell Lines for OCLN
-
ViGene Biosciences adenoviral particle packaged cDNA for OCLN gene
-
ViGene Biosciences lentiviral particle packaged cDNA for OCLN gene
-
ViGene Biosciences ready-to-package AAV shRNAs for OCLN gene
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for OCLN Gene
Localization for OCLN Gene
Subcellular locations from UniProtKB/Swiss-Prot for OCLN Gene
- Cell membrane; Multi-pass membrane protein. Cell junction, tight junction.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 3 |
| extracellular | 2 |
| peroxisome | 2 |
| nucleus | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
- Cell Junctions (3)
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005911 | cell-cell junction | IDA | 19332538 |
| GO:0005923 | bicellular tight junction | IDA | 20028514 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for OCLN Gene
Pathways by source for OCLN Gene
2 BioSystems pathways for OCLN Gene
5 Reactome pathways for OCLN Gene
5 KEGG pathways for OCLN Gene
3 GeneGo (Thomson Reuters) pathways for OCLN Gene
6 R&D Systems pathways for OCLN Gene
- Blood-Brain Barrier and Immune Cell Transmigration: CCL2/MCP-1 Signaling Pathways
- Blood-Brain Barrier and Immune Cell Transmigration: ICAM-1/CD54 Signaling Pathways
- Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview
- Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways
- Blood-Brain Barrier and Immune Cell Transmigration: VEGF Signaling Pathways
3 Qiagen pathways for OCLN Gene
Interacting Proteins for OCLN Gene
Selected Interacting proteins:
ENSP00000347379
Q16625-OCLN_HUMAN
for OCLN Gene via
STRING
UniProtKB
IID
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006461 | protein complex assembly | TAS | 10749869 |
| GO:0045216 | cell-cell junction organization | IMP | 20164257 |
| GO:0070673 | response to interleukin-18 | IEA | -- |
| GO:0070830 | bicellular tight junction assembly | IMP | 20164257 |
| GO:0071356 | cellular response to tumor necrosis factor | IEA | -- |
Transcripts for OCLN Gene
mRNA/cDNA for OCLN Gene
- (5) REFSEQ mRNAs :
- (15) Additional mRNA sequences :
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for OCLN
- genomics-online: gRNA clones - Search results for 114 available Occludin gene related products
- Overview of 114 available Occludin gene related products
- Applied Biological Materials CRISPR for OCLN
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for OCLN
- GenScript: Design CRISPR guide RNA sequences for OCLN
miRNA Products
- Search ViGene Biosciences for OCLN
Inhibitory RNA Products
- Origene RNAi, shrna, and sirna products in human, mouse, rat for OCLN
- Browse OriGene Inhibitory RNA Products For OCLN
- genomics-online: shRNA clones - Search results for 114 available Occludin gene related products
- Overview of 114 available Occludin gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for OCLN gene
Clone Products
- Sino Biological Human cDNA Clone for OCLN
- Addgene plasmids for OCLN
- Applied Biological Materials Clones for OCLN
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for OCLN (Occludin)
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||
| SP4: | - | - | - | - | |||||||||||||||||||||
| SP5: | - | - |
Expression for OCLN Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Tooth (Integumentary System)
- Early Ameloblasts Dental Enamel
- Dental Papilla Cells Dental Papilla
- Inner Enamel Epithelial Cells Dental Enamel
- Stellate Reticulum Cells Dental Core
- Outer Enamel Epithelial Cells Dental Enamel
-
Kidney (Urinary System)
- Ureteric Bud Cells Ureteric Bud
- Ureteric Bud Tip Cells Ureteric Bud
- Renal Collecting Duct System
- Ureteric Bud
- Metanephros
-
Epithelial Cells
- Early Ameloblasts Dental Enamel
- Mature Choroid Plexus Cells Choroid Plexus
- Inner Enamel Epithelial Cells Dental Enamel
- Outer Enamel Epithelial Cells Dental Enamel
- Brain (Nervous System)
- Inner Cell Mass (Early Embryonic Tissues)
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
- Lung (Respiratory System)
- Endothelium (Cardiovascular System)
-
Epiblast (Early Embryonic Tissues)
- Epiblast Cells Epiblast
- Lower Urinary Tract (Urinary System)
- NULL (Uncategorized)
This gene is overexpressed in Liver, secretome (21.9), Cervix (10.4), Pancreas (8.3), and Islet of Langerhans (7.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for OCLN Gene
NURSA nuclear receptor signaling pathways regulating expression of OCLN Gene:
OCLNSOURCE GeneReport for Unigene cluster for OCLN Gene:
Hs.592605mRNA Expression by UniProt/SwissProt for OCLN Gene:
Q16625-OCLN_HUMAN
Tissue specificity:
Localized at tight junctions of both epithelial and endothelial cells. Highly expressed in kidney. Not detected in testis.
Evidence on tissue expression from TISSUES for OCLN Gene
- Nervous system(4.9)
- Lung(4.8)
- Liver(4.5)
- Kidney(3.9)
- Skin(3.6)
- Eye(3.4)
- Intestine(3.4)
- Blood(2.7)
- Heart(2.7)
- Pancreas(2.2)
- Stomach(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for OCLN Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- lymphatic
- nervous
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- chin
- ear
- eye
- face
- forehead
- head
- jaw
- lip
- mandible
- meninges
- mouth
- neck
- nose
- outer ear
- skull
Thorax:
- chest wall
Abdomen:
- abdominal wall
- liver
- spleen
General:
- blood
- blood vessel
- coagulation system
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for OCLN
-
OriGene qPCR primer pairs and template standards for OCLN
No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for OCLN Gene
Orthologs for OCLN Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | OCLN 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | OCLN 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | OCLN 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Ocln 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | OCLN 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Ocln 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | OCLN 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | OCLN 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | OCLN 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ocln 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | oclna 33 34 |
|
||
| oclnb 34 |
|
OneToMany |
- Species where no ortholog for OCLN was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for OCLN Gene
Pseudogenes.org Pseudogenes for OCLN Gene
No data available for Paralogs for OCLN Gene
Variants for OCLN Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs113706384 | uncertain-significance, Band-like calcification with simplified gyration and polymicrogyria | 69,504,248(+) | T/C | 5_prime_UTR_variant, coding_sequence_variant, missense_variant | |
| rs150730577 | uncertain-significance, Band-like calcification with simplified gyration and polymicrogyria | 69,509,474(+) | C/T | coding_sequence_variant, intron_variant, synonymous_variant | |
| rs267606926 | pathogenic, Band-like calcification with simplified gyration and polymicrogyria, Pseudo-TORCH syndrome 1 (PTORCH1) [MIM:251290] | 69,509,746(+) | T/C | coding_sequence_variant, intron_variant, missense_variant | |
| rs28562785 | uncertain-significance, benign, Band-like calcification with simplified gyration and polymicrogyria, not specified | 69,509,542(+) | C/T | coding_sequence_variant, intron_variant, missense_variant | |
| rs369518478 | benign, likely-benign, not provided, not specified | 69,534,724(+) | G/A/C | coding_sequence_variant, missense_variant |
Residual Variation Intolerance Score:
70.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.88;
35.09% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for OCLN Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OCLN Gene
Disorders for OCLN Gene
(9) MalaCards diseases for OCLN Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pseudo-torch syndrome 1 |
|
|
| congenital intrauterine infection-like syndrome |
|
|
| torch syndrome |
|
|
| acute vascular insufficiency of intestine |
|
|
| night blindness, congenital stationary, type 1a |
|
|
Search OCLN in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
OCLN_HUMAN- Pseudo-TORCH syndrome 1 (PTORCH1) [MIM:251290]: An autosomal recessive neurologic disorder with characteristic clinical and neuroradiologic features that mimic intrauterine TORCH infection in the absence of evidence of infection. Affected individuals have congenital microcephaly, intracranial calcifications, and severe developmental delay. {ECO:0000269 PubMed:20727516}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for OCLN
No data available for Genatlas for OCLN Gene
Publications for OCLN Gene
- Interspecies diversity of the occludin sequence: cDNA cloning of human, mouse, dog, and rat-kangaroo homologues. (PMID: 8601611) Ando-Akatsuka Y … Tsukita S (The Journal of cell biology 1996) 2 3 4 58
- Splicing diversity of the human OCLN gene and its biological significance for hepatitis C virus entry. (PMID: 20463075) Kohaar I … Prokunina-Olsson L (Journal of virology 2010) 3 4 58
- Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. (PMID: 20727516) O'Driscoll MC … Crow YJ (American journal of human genetics 2010) 3 4 58
- Claudin association with CD81 defines hepatitis C virus entry. (PMID: 20375010) Harris HJ … McKeating JA (The Journal of biological chemistry 2010) 3 4 58
- Phosphorylation of Tyr-398 and Tyr-402 in occludin prevents its interaction with ZO-1 and destabilizes its assembly at the tight junctions. (PMID: 19017651) Elias BC … Rao R (The Journal of biological chemistry 2009) 3 4 58
Products for OCLN Gene
- R&D Systems Antibodies for OCLN (Occludin)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- R&D Systems cDNA Clones for OCLN (Occludin)
- Browse Primary Antibodies
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- Custom Antibody ServicesOriGene Antibodies for OCLN
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for OCLN
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- GenScript: Next-day shipping of latest version cDNA ORF clones for OCLN in any vector
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- CloneReady with Over 120,000 Genes
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- Novus Biologicals Antibodies for OCLN
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- Abcam antibodies for OCLN
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- Find your target
- Browse Primary Antibodies
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- Cloud-Clone Corp. Antibodies for OCLN
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- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
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- Invitrogen Antibodies for OCLN
- Addgene plasmids for OCLN
- antibodies-online: Search results for 119 available Occludin Antibodies ranked by validation data
- Compare Top Occludin Antibodies
- antibodies-online: Search results for 46 available Occludin Elisa Kits ranked by validation data
- Compare Top Occludin Elisa Kits
- antibodies-online: Search results for 9 available Occludin Proteins ranked by validation data
- Compare Top Occludin Proteins
- GeneTex OCLN antibody for OCLN
- Search GeneTex for Proteins for OCLN
- ViGene Biosciences adenoviral particle packaged cDNA for OCLN gene
- ViGene Biosciences lentiviral particle packaged cDNA for OCLN gene
- ViGene Biosciences ready-to-package AAV shRNAs for OCLN gene
- Search ViGene Biosciences for OCLN
- Santa Cruz Biotechnology (SCBT) Antibodies for OCLN
- Search Santa Cruz Biotechnology (SCBT) for OCLN siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for OCLN
- Custom Antibody ServicesProSci Antibodies for OCLN
- Search for OCLN Proteins at ProSci
- Horizon Cell Lines for OCLN
- genomics-online: cdna clones - Search results for 114 available Occludin gene related products
- Overview of 114 available Occludin gene related products
- orf clones - Search results for 114 available Occludin gene related products
- Overview of 114 available Occludin gene related products
- genomics-online: gRNA clones - Search results for 114 available Occludin gene related products
- Overview of 114 available Occludin gene related products
- genomics-online: primer clones - Search results for 114 available Occludin gene related products
- Overview of 114 available Occludin gene related products
- genomics-online: shRNA clones - Search results for 114 available Occludin gene related products
- Overview of 114 available Occludin gene related products
Sources for OCLN Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
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- (133) ENCODE
- (134) ProSci
- (135) Horizon
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- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
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- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew