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This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains often organize multimeric complexes at the plasma membrane. This protein localizes to tight junctions and to the apical membrane of epithelial cells. A similar protein in Drosophila is a scaffolding protein which tethers several members... See more...
Aliases for PATJ Gene
Aliases for PATJ Gene
- PATJ Crumbs Cell Polarity Complex Component 2 3 5
- Channel-Interacting PDZ Domain-Containing Protein 3 4
- Inactivation-No-Afterpotential D-Like 2 3
- Protein Associated To Tight Junctions 3 4
- InaD-Like Protein 3 4
- HINADL 3 4
- INADL 3 4
- Cipp 2 3
- Inactivation No After-Potential D-Like Protein 3
- PATJ, Crumbs Cell Polarity Complex Component 2
External Ids for PATJ Gene
- HGNC: 28881
- NCBI Entrez Gene: 10207
- Ensembl: ENSG00000132849
- OMIM®: 603199
- UniProtKB/Swiss-Prot: Q8NI35
Previous HGNC Symbols for PATJ Gene
- INADL
Summaries for PATJ Gene
-
This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains often organize multimeric complexes at the plasma membrane. This protein localizes to tight junctions and to the apical membrane of epithelial cells. A similar protein in Drosophila is a scaffolding protein which tethers several members of a multimeric signaling complex in photoreceptors. [provided by RefSeq, Jul 2008]
GeneCards Summary for PATJ Gene
PATJ (PATJ Crumbs Cell Polarity Complex Component) is a Protein Coding gene. Diseases associated with PATJ include Intraorbital Meningioma and Retinitis Pigmentosa 12. Among its related pathways are Hippo signaling pathway and PI3K-Akt signaling pathway. An important paralog of this gene is MPDZ.
UniProtKB/Swiss-Prot Summary for PATJ Gene
-
Scaffolding protein that facilitates the localization of proteins to the cell membrane (PubMed:11927608, PubMed:16678097, PubMed:22006950). Required for the correct formation of tight junctions and epithelial apico-basal polarity (PubMed:11927608, PubMed:16678097). Positively regulates epithelial cell microtubule elongation and cell migration, possibly via facilitating localization of PRKCI/aPKC and PAR3D/PAR3 at the leading edge of migrating cells (By similarity). Plays a role in the correct reorientation of the microtubule-organizing center during epithelial migration (By similarity). May regulate the surface expression and/or function of ASIC3 in sensory neurons (By similarity). May recruit ARHGEF18 to apical cell-cell boundaries (PubMed:22006950).
Additional gene information for PATJ Gene
- HGNC (28881)
- NCBI Entrez Gene (10207)
- Ensembl (ENSG00000132849)
- OMIM® (603199)
- UniProtKB/Swiss-Prot (Q8NI35)
- Open Targets Platform(ENSG00000132849)
- Monarch Initiative
- Search for PATJ at DataMed
- Search for PATJ at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PATJ Gene
Genomics for PATJ Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PATJ Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PATJ on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PATJ
Genomic Locations for PATJ Gene
Latest Assembly
- chr1:61,742,477-62,178,675
- (GRCh38/hg38)
- Size:
- 436,199 bases
- Orientation:
- Plus strand
Previous Assembly
- chr1:62,208,152-62,629,587
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 421,436 bases
- Orientation:
- Plus strand
- chr1:62,208,149-62,629,592
- (GRCh37/hg19 by Ensembl)
- Size:
- 421,444 bases
- Orientation:
- Plus strand
Genomic View for PATJ Gene
Genes around PATJ on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p31.3 by HGNC
- 1p31.3 by Entrez Gene
- 1p31.3 by Ensembl
PATJ 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 PATJ Gene
Proteins for PATJ Gene
-
Protein details for PATJ Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8NI35-INADL_HUMAN
- Recommended name:
- InaD-like protein
- Protein Accession:
- Q8NI35
- O15249
- O43742
- O60833
- Q5VUA5
- Q5VUA6
- Q5VUA7
- Q5VUA8
- Q5VUA9
- Q5VUB0
- Q8WU78
- Q9H3N9
Protein attributes for PATJ Gene
- Size:
- 1801 amino acids
- Molecular mass:
- 196368 Da
- Quaternary structure:
-
- Forms a ternary complex with MPP5, CRB1 and CRB3 (PubMed:11927608, PubMed:11964389). Component of a complex whose core is composed of ARHGAP17, AMOT, MPP5/PALS1, INADL/PATJ and PARD3/PAR3 (PubMed:16678097). Forms a heterotrimeric complex composed of MMP5, LIN7B and PATJ; the N-terminal L27 domain of MPP5 interacts with the L27 domain of PATJ and the C-terminal L27 domain of MPP5 interacts with the L27 domain of LIN7B (By similarity). Component of a complex composed of CRB3, MPP5/PALS1 and PATJ (By similarity). Interacts (via N-terminus) with MPP5/PALS (via PDZ domain) (PubMed:11927608, PubMed:12527193). Interacts with TJP3/ZO-3 and CLDN1/claudin-1 (PubMed:12021270). Interacts with ASIC3, KCNJ10, KCNJ15, GRIN2A, GRIN2B, GRIN2C, GRIN2D, NLGN2, HTR2A and SLC6A4 (By similarity). Interacts with MPP7 (PubMed:12021270). Directly interacts with HTR4 (By similarity). Interacts (via PDZ domain 8) with WWC1 (via the ADDV motif) (PubMed:18596123). Interacts with SLC6A4 (By similarity). Interacts (via C-terminus) with ARHGEF18 (PubMed:22006950). Interacts with NPHP1 (PubMed:19755384). Interacts with PARD3/PAR3 (By similarity).
Three dimensional structures from OCA and Proteopedia for PATJ Gene
Post-translational modifications for PATJ Gene
Other Protein References for PATJ Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences INADL / PATJ Antibody
-
Custom Antibody ServicesOriGene Antibodies for PATJ
- Novus Biologicals Antibodies for PATJ
-
Abcam antibodies for PATJ
- Invitrogen Antibodies for PATJ (AFLGC-PATJ)
-
Boster Bio Antibodies for PATJ
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for PATJ
- Origene Custom Protein Services for PATJ
- Novus Biologicals proteins for PATJ
-
Abcam proteins for PATJ
Assay products for research
No data available for DME Specific Peptides for PATJ Gene
Domains & Families for PATJ Gene
Gene Families for PATJ Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for PATJ Gene
Suggested Antigen Peptide Sequences for PATJ Gene
- GenScript: Design optimal peptide antigens:
-
- INADL protein (A5PKX9_HUMAN)
- cDNA FLJ59473, highly similar to InaD-like protein (B4DE90_HUMAN)
- Protein associated to tight junctions (INADL_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8NI35UniProtKB/Swiss-Prot:
INADL_HUMAN :- The L27 domain (also called Maguk recruitment domain) is required for interaction with MPP5 and CRB3, and MPP5 localization to tight junctions.
- Domain:
-
- The L27 domain (also called Maguk recruitment domain) is required for interaction with MPP5 and CRB3, and MPP5 localization to tight junctions.
- The PDZ domain 6 mediates interaction with the C-terminus of TJP3 and is crucial for localization to the tight junctions (PubMed:12021270). The PDZ domain 8 interacts with CLDN1 but is not required for proper localization (PubMed:12021270).
Function for PATJ Gene
Molecular function for PATJ Gene
- UniProtKB/Swiss-Prot Function:
- Scaffolding protein that facilitates the localization of proteins to the cell membrane (PubMed:11927608, PubMed:16678097, PubMed:22006950). Required for the correct formation of tight junctions and epithelial apico-basal polarity (PubMed:11927608, PubMed:16678097). Positively regulates epithelial cell microtubule elongation and cell migration, possibly via facilitating localization of PRKCI/aPKC and PAR3D/PAR3 at the leading edge of migrating cells (By similarity). Plays a role in the correct reorientation of the microtubule-organizing center during epithelial migration (By similarity). May regulate the surface expression and/or function of ASIC3 in sensory neurons (By similarity). May recruit ARHGEF18 to apical cell-cell boundaries (PubMed:22006950).
Phenotypes From GWAS Catalog for PATJ Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA,IPI | 11927608 |
Phenotypes for PATJ Gene
- MGI mutant phenotypes for PATJ:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PATJ:
-
- no effect
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased viability
- Decreased transferrin (TF) endocytosis, decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PATJ - Starting at $85 >
- * PATJ CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PATJ
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PATJ
miRNA for PATJ Gene
- miRTarBase miRNAs that target PATJ
-
- hsa-miR-548b-3p (MIRT040510)
- hsa-miR-15b-5p (MIRT046482)
- hsa-miR-155-5p (MIRT053255)
- hsa-miR-665 (MIRT625876)
- hsa-miR-6771-5p (MIRT625877)
- hsa-miR-7160-5p (MIRT625878)
- hsa-miR-4722-5p (MIRT625879)
- hsa-miR-6884-5p (MIRT625880)
- hsa-miR-485-5p (MIRT625881)
- hsa-miR-1827 (MIRT625882)
- hsa-miR-4649-3p (MIRT625883)
- hsa-miR-6746-5p (MIRT625884)
- hsa-miR-4768-3p (MIRT625885)
- hsa-miR-5690 (MIRT625886)
- hsa-miR-4478 (MIRT625887)
- hsa-miR-4419b (MIRT625888)
- hsa-miR-3929 (MIRT625889)
- hsa-miR-940 (MIRT625890)
- hsa-miR-6893-5p (MIRT625891)
- hsa-miR-6808-5p (MIRT625892)
- hsa-miR-578 (MIRT645824)
- hsa-miR-4639-5p (MIRT645825)
- hsa-miR-6867-3p (MIRT645826)
- hsa-miR-211-5p (MIRT645827)
- hsa-miR-204-5p (MIRT645828)
- hsa-miR-6845-3p (MIRT645829)
- hsa-miR-4685-3p (MIRT645830)
- hsa-miR-7113-3p (MIRT645831)
- hsa-miR-4287 (MIRT645832)
- hsa-miR-4469 (MIRT645833)
- hsa-miR-6832-3p (MIRT645834)
- hsa-miR-7977 (MIRT663008)
- hsa-miR-490-3p (MIRT677843)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PATJ
- Browse OriGene Inhibitory RNA Products For PATJ
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PATJ
Clone products for research
- Applied Biological Materials (abm): Clones for PATJ - Starting at $45 >
- * PATJ as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PATJ
- Addgene plasmids for PATJ
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PATJ
Cell Lines for research
-
Horizon Cell Lines for PATJ
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PATJ Gene
Localization for PATJ Gene
Subcellular locations from UniProtKB/Swiss-Prot for PATJ Gene
- Cell junction, tight junction. Apical cell membrane. Peripheral membrane protein. Cytoplasm, perinuclear region. Note=Localizes to the apical region at the start of epithelial cell polarization then locates to tight junctions as polarization is completed (PubMed:11964389). Localized in the paranodal region of myelinating Schwann cells (By similarity). Localized to the leading edge of the actin cortex of migrating epithelia cells (By similarity). {ECO:0000250 UniProtKB:E2QYC9, ECO:0000250 UniProtKB:Q63ZW7}.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 4 |
| extracellular | 4 |
| cytoskeleton | 4 |
| nucleus | 3 |
| endosome | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cell Junctions (3)
- Centriolar satellite (3)
- Cytosol (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IDA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005923 | bicellular tight junction | IEA,IDA | 22006950 |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for PATJ Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cell junction organization | ||
| 2 | Hippo signaling pathway | ||
| 3 | PI3K-Akt signaling pathway | ||
| 4 | Tight junction | ||
| 5 | Sertoli-Sertoli Cell Junction Dynamics |
Epithelial Tight Junctions
.36
|
|
Pathways by source for PATJ Gene
4 Reactome pathways for PATJ Gene
3 KEGG pathways for PATJ Gene
1 Qiagen pathway for PATJ Gene
- Epithelial Tight Junctions
Interacting Proteins for PATJ Gene
Selected Interacting proteins:
Q8NI35-INADL_HUMAN
ENSP00000360200
for PATJ Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for PATJ
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0035089 | establishment of apical/basal cell polarity | ISS | -- |
| GO:0035556 | intracellular signal transduction | NAS | 9280290 |
| GO:0070830 | bicellular tight junction assembly | TAS | -- |
| GO:0120192 | tight junction assembly | ISS | -- |
No data available for SIGNOR curated interactions for PATJ Gene
Transcripts for PATJ Gene
mRNA/cDNA for PATJ Gene
- 4 REFSEQ mRNAs :
- 19 NCBI additional mRNA sequence :
- 18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000307297 1585 nts (view in UCSC)
- ENST00000316485 3657 nts (view in UCSC)
- ENST00000371158 8505 nts (view in UCSC)
- ENST00000459752 5349 nts (view in UCSC)
- ENST00000465798 569 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PATJ - Starting at $85 >
- * PATJ CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PATJ
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PATJ
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PATJ
- Browse OriGene Inhibitory RNA Products For PATJ
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PATJ
Clone products for research
- Applied Biological Materials (abm): Clones for PATJ - Starting at $45 >
- * PATJ as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PATJ
- Addgene plasmids for PATJ
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PATJ
Relevant External Links for PATJ Gene
- GeneLoc Exon Structure for
- PATJ
Expression for PATJ Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PATJ
mRNA Expression by UniProt/SwissProt for PATJ Gene:
Q8NI35-INADL_HUMAN
Tissue specificity:
Expressed in renal tubules (at protein level) (PubMed:19755384). Expressed in bladder, testis, ovary, small intestine, colon, heart, skeletal muscle, pancreas and cerebellum in the brain.
Evidence on tissue expression from TISSUES for PATJ Gene
- Kidney(4.6)
- Skin(4.5)
- Liver(4.4)
- Nervous system(2.6)
- Heart(2.6)
- Muscle(2.4)
- Thyroid gland(2.3)
- Intestine(2.2)
- Eye(2)
Primer products for research
-
OriGene qPCR primer pairs for PATJ
Gene Expression Assays for research
No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PATJ Gene
Orthologs for PATJ Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | INADL 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | INADL 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | INADL 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Inadl 30 31 |
|
OneToOne | |
| Patj 17 |
|
||||
| Rat (Rattus norvegicus) |
Mammalia | Inadl 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | INADL 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | INADL 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | INADL 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | INADL 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | inadl 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | inadl 30 31 |
|
OneToOne | |
| Dr.20603 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1952 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Patj 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | mpz-1 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| CSA.5918 31 |
|
OneToMany |
- Species where no ortholog for PATJ was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- 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)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- 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)
Evolution for PATJ Gene
- ENSEMBL:
- Gene Tree for PATJ (if available)
- TreeFam:
- Gene Tree for PATJ (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PATJ: view image
Paralogs for PATJ Gene
Variants for PATJ Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PATJ Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs112548443 | Benign: not provided | 61,864,321(+) |
A/G NM_176877.4(PATJ):c.2523A>G (p.Gln841=) |
SYNONYMOUS | |
| rs115241683 | Benign: not provided | 61,787,929(+) |
T/C NM_176877.4(PATJ):c.1025T>C (p.Leu342Ser) |
MISSENSE | |
| rs116544267 | Benign: not provided | 61,861,632(+) |
G/C NM_176877.4(PATJ):c.2404G>C (p.Asp802His) |
MISSENSE | |
| rs187417242 | Benign: not provided | 62,128,864(+) |
T/A NM_176877.4(PATJ):c.5190T>A (p.Ile1730=) |
SYNONYMOUS | |
| rs201514515 | Likely Benign: not provided | 62,114,085(+) |
C/T NM_176877.4(PATJ):c.4494C>T (p.His1498=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
97.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
14.16;
96.16% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PATJ Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PATJ Gene
Disorders for PATJ Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| intraorbital meningioma |
|
|
| retinitis pigmentosa 12 |
|
|
| wilson-turner x-linked mental retardation syndrome |
|
|
| meckel syndrome, type 1 |
|
|
| leber plus disease |
|
|
Search PATJ in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PATJ
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for PATJ Gene
Publications for PATJ Gene
- Molecular characterization of a novel human PDZ domain protein with homology to INAD from Drosophila melanogaster. (PMID: 9280290) Philipp S … Flockerzi V (FEBS letters 1997) 2 3 4 23
- The Maguk protein, Pals1, functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost. (PMID: 11927608) Roh MH … Margolis B (The Journal of cell biology 2002) 3 4 23
- Isolation of novel heart-specific genes using the BodyMap database. (PMID: 11374908) Soejima H … Mukai T (Genomics 2001) 2 3 4
- Lulu2 regulates the circumferential actomyosin tensile system in epithelial cells through p114RhoGEF. (PMID: 22006950) Nakajima H … Tanoue T (The Journal of cell biology 2011) 3 4
- Channel-interacting PDZ protein, 'CIPP', interacts with proteins involved in cytoskeletal dynamics. (PMID: 19138174) Alpi E … Dente L (The Biochemical journal 2009) 3 23
ExternalLinks
Products for PATJ Gene
- Custom Antibody ServicesOriGene Antibodies for PATJ
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for PATJ
- Origene Custom Protein Services for PATJ
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PATJ
- Browse OriGene Inhibitory RNA Products For PATJ
- OriGene qPCR primer pairs for PATJ
- OriGene CRISPR knockouts for PATJ
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- Browse OriGene miRNA Products For PATJ
- Sino Biological Human cDNA Clone for PATJ
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- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals proteins for PATJ
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- Abcam proteins for PATJ
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- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for PATJ (AFLGC-PATJ)
- VectorBuilder Custom and pre-made DNA vectors for PATJ (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for PATJ (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for PATJ (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for PATJ CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PATJ
- Addgene plasmids for PATJ
- antibodies-online: Show 7 available INADL Antibodies ranked by validation data
- Compare Top INADL Antibodies
- antibodies-online: Search results for available INADL related products ranked by validation data
- antibodies-online: Search results for available INADL related products ranked by validation data
- Horizon Cell Lines for PATJ
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PATJ
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PATJ
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PATJ
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PATJ
- Boster Bio Antibodies for PATJ
- Browse Boster Bio ELISA Kits
Sources for PATJ Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB