Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10207
Gene name	PATJ crumbs cell polarity complex component
Gene symbol	PATJ
Synonyms (NCBI Gene)	CippINADLInaD-likehINADL
Chromosome	1
Chromosome location	1p31.3
Summary	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 th

Show/Hide all (78)

miRTarBase ID	miRNA	Experiments	Reference
MIRT677843	hsa-miR-490-3p	HITS-CLIP	23824327
MIRT625889	hsa-miR-3929	HITS-CLIP	23824327
MIRT625888	hsa-miR-4419b	HITS-CLIP	23824327
MIRT625887	hsa-miR-4478	HITS-CLIP	23824327
MIRT625886	hsa-miR-5690	HITS-CLIP	23824327
MIRT625885	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT625884	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT625883	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT625882	hsa-miR-1827	HITS-CLIP	23824327
MIRT625881	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT625880	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT625879	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT625878	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT625877	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT625876	hsa-miR-665	HITS-CLIP	23824327
MIRT625892	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT625891	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT625890	hsa-miR-940	HITS-CLIP	23824327
MIRT625889	hsa-miR-3929	HITS-CLIP	23824327
MIRT625888	hsa-miR-4419b	HITS-CLIP	23824327
MIRT625887	hsa-miR-4478	HITS-CLIP	23824327
MIRT625886	hsa-miR-5690	HITS-CLIP	23824327
MIRT625885	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT625884	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT625883	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT625882	hsa-miR-1827	HITS-CLIP	23824327
MIRT625881	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT625880	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT625879	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT625878	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT663008	hsa-miR-7977	HITS-CLIP	23824327
MIRT625877	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT625876	hsa-miR-665	HITS-CLIP	23824327
MIRT625892	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT625891	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT625890	hsa-miR-940	HITS-CLIP	23824327
MIRT625889	hsa-miR-3929	HITS-CLIP	23824327
MIRT625888	hsa-miR-4419b	HITS-CLIP	23824327
MIRT625887	hsa-miR-4478	HITS-CLIP	23824327
MIRT625886	hsa-miR-5690	HITS-CLIP	23824327
MIRT625885	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT625884	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT625883	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT625882	hsa-miR-1827	HITS-CLIP	23824327
MIRT625881	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT625880	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT625879	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT625878	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT625877	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT625876	hsa-miR-665	HITS-CLIP	23824327
MIRT645834	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT645833	hsa-miR-4469	HITS-CLIP	23824327
MIRT645831	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT645832	hsa-miR-4287	HITS-CLIP	23824327
MIRT645830	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT645829	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT645828	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT645827	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT645826	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT645825	hsa-miR-4639-5p	HITS-CLIP	23824327
MIRT645824	hsa-miR-578	HITS-CLIP	23824327
MIRT625892	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT625891	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT625890	hsa-miR-940	HITS-CLIP	23824327
MIRT625889	hsa-miR-3929	HITS-CLIP	23824327
MIRT625888	hsa-miR-4419b	HITS-CLIP	23824327
MIRT625887	hsa-miR-4478	HITS-CLIP	23824327
MIRT625886	hsa-miR-5690	HITS-CLIP	23824327
MIRT625885	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT625884	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT625883	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT625882	hsa-miR-1827	HITS-CLIP	23824327
MIRT625881	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT625880	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT625879	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT625878	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT625877	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT625876	hsa-miR-665	HITS-CLIP	23824327

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11927608, 18596123, 21481793, 24366813, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005923	Component	Bicellular tight junction	IBA
GO:0005923	Component	Bicellular tight junction	IDA	22006950
GO:0005923	Component	Bicellular tight junction	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016324	Component	Apical plasma membrane	NAS	19625503, 26404741, 28424578
GO:0030054	Component	Cell junction	IDA
GO:0034451	Component	Centriolar satellite	IDA
GO:0035089	Process	Establishment of apical/basal cell polarity	ISS
GO:0035556	Process	Intracellular signal transduction	NAS	9280290
GO:0043296	Component	Apical junction complex	NAS	19625503, 26404741, 28424578
GO:0045177	Component	Apical part of cell	IBA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	NAS	19625503, 26404741, 28424578
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	18596123
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070160	Component	Tight junction	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0120192	Process	Tight junction assembly	IBA
GO:0120192	Process	Tight junction assembly	ISS

MIM	HGNC	e!Ensembl
603199	28881	ENSG00000132849

Q8NI35

Protein name

InaD-like protein (Inadl protein) (hINADL) (Channel-interacting PDZ domain-containing protein) (Pals1-associated tight junction protein) (Protein associated to tight junctions)

Protein 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:1192760

PDB

1VF6 , 2D92 , 2DAZ , 2DB5 , 2DLU , 2DM8 , 2DMZ , 2EHR , 4Q2N , 6IRD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09045	L27_2	8 → 65	L27_2	Domain
PF00595	PDZ	134 → 218	PDZ domain	Domain
PF00595	PDZ	248 → 325	PDZ domain	Domain
PF00595	PDZ	365 → 450	PDZ domain	Domain
PF00595	PDZ	563 → 634	PDZ domain	Domain
PF00595	PDZ	686 → 770	PDZ domain	Domain
PF00595	PDZ	1069 → 1157	PDZ domain	Domain
PF00595	PDZ	1239 → 1319	PDZ domain	Domain
PF00595	PDZ	1435 → 1517	PDZ domain	Domain
PF00595	PDZ	1534 → 1612	PDZ domain	Domain
PF00595	PDZ	1676 → 1759	PDZ domain	Domain

Tissue specificity

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. {ECO:0000269|PubMed:11964389, ECO:0000269|PubMe

Sequence

MPENPATDKLQVLQVLDRLKMKLQEKGDTSQNEKLSMFYETLKSPLFNQILTLQQSIKQL
KGQLNHIPSDCSANFDFSRKGLLVFTDGSITNGNVHRPSNNSTVSGLFPWTPKLGNEDFN
SVIQQMAQGRQIEYIDIERPSTGGLGFSVVALRSQNLGKVDIFVKDVQPGSVADRDQRLK
ENDQILAINHTPLDQNISHQQAIALLQQTTGSLRLIVAREPVHTKSSTSSSLNDTTLPET
VCWGHVEEVELINDGSGLGFGIVGGKTSGVVVRTIVPGGLADRDGRLQTGDHILKIGGTN
VQGMTSEQVAQVLRNCGNSVRMLVARDPAGDISVTPPAPAALPVALPTVASKGPGSDSSL
FETYNVELVRKDGQSLGIRIVGYVGTSHTGEASGIYVKSIIPGSAAYHNGHIQVNDKIVA
VDGVNIQGFANHDVVEVLRNAGQVVHLTLVRRKTSSSTSPLEPPSDRGTVVEPLKPPALF
LTGAVETETNVDGEDEEIKERIDTLKNDNIQALEKLEKVPDSPENELKSRWENLLGPDYE
VMVATLDTQIADDAELQKYSKLLPIHTLRLGVEVDSFDGHHYISSIVSGGPVDTLGLLQP
EDELLEVNGMQLYGKSRREAVSFLKEVPPPFTLVCCRRLFDDEASVDEPRRTETSLPETE
VDHNMDVNTEEDDDGELALWSPEVKIVELVKDCKGLGFSILDYQDPLDPTRSVIVIRSLV
ADGVAERSGGLLPGDRLVSVNEYCLDNTSLAEAVEILKAVPPGLVHLGICKPLVEDNEEE
SCYILHSSSNEDKTEFSGTIHDINSSLILEAPKGFRDEPYFKEELVDEPFLDLGKSFHSQ
QKEIEQSKEAWEMHEFLTPRLQEMDEEREILVDEEYELYQDPSPSMELYPLSHIQEATPV
PSVNELHFGTQWLHDNEPSESQEARTGRTVYSQEAQPYGYCPENVMKENFVMESLPSVPS
TEGNSQQGRFDDLENLNSLAKTSLDLGMIPNDVQGPSLLIDLPVVAQRREQEDLPLYQHQ
ATRVISKASAYTGMLSSRYATDTCELPEREEGEGEETPNFSHWGPPRIVEIFREPNVSLG
ISIVGGQTVIKRLKNGEELKGIFIKQVLEDSPAGKTNALKTGDKILEVSGVDLQNASHSE
AVEAIKNAGNPVVFIVQSLSSTPRVIPNVHNKANKITGNQNQDTQEKKEKRQGTAPPPMK
LPPPYKALTDDSDENEEEDAFTDQKIRQRYADLPGELHIIELEKDKNGLGLSLAGNKDRS
RMSIFVVGINPEGPAAADGRMRIGDELLEINNQILYGRSHQNASAIIKTAPSKVKLVFIR
NEDAVNQMAVTPFPVPSSSPSSIEDQSGTEPISSEEDGSVEVGIKQLPESESFKLAVSQM
KQQKYPTKVSFSSQEIPLAPASSYHSTDADFTGYGGFQAPLSVDPATCPIVPGQEMIIEI
SKGRSGLGLSIVGGKDTPLNAIVIHEVYEEGAAARDGRLWAGDQILEVNGVDLRNSSHEE
AITALRQTPQKVRLVVYRDEAHYRDEENLEIFPVDLQKKAGRGLGLSIVGKRNGSGVFIS
DIVKGGAADLDGRLIQGDQILSVNGEDMRNASQETVATILKCAQGLVQLEIGRLRAGSWT
SARTTSQNSQGSQQSAHSSCHPSFAPVITGLQNLVGTKRVSDPSQKNSGTDMEPRTVEIN
RELSDALGISIAGGRGSPLGDIPVFIAMIQASGVAARTQKLKVGDRIVSINGQPLDGLSH
ADVVNLLKNAYGRIILQVVADTNISAIAAQLENMSTGYHLGSPTAEHHPEDTEEQLQMTA
D

Sequence length

1801

Interactions

View interactions

	KEGG
	Hippo signaling pathway Tight junction Human papillomavirus infection

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BELL'S PALSY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILIARY ATRESIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	15003862, 23279616		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	18796002	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	27445342, 33843785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	GWASCAT_DG	30582445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	33568662	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	20833712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinoblastoma	Retinoblastoma	Pubtator	36362243	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Usher Syndrome, Type I	Usher Syndrome	BEFREE	15590703		★★★★★ ★☆☆☆☆ Found in Text Mining only

PATJ (PATJ crumbs cell polarity complex component)