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

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	56288
Gene name Gene Name - the full gene name approved by the HGNC.	Par-3 family cell polarity regulator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PARD3
Synonyms (NCBI Gene) Gene synonyms aliases	ASIP, Baz, PAR3, PAR3alpha, PARD-3, PARD3A, PPP1R118, SE2-5L16, SE2-5LT1, SE2-5T2
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10p11.22-p11.21
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical cell division and direct polarized cell growth. Multiple alternatively spliced transcript varia

Show/Hide all(6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs199923448	C>A,T	Risk-factor, uncertain-significance	Coding sequence variant, missense variant
rs557643577	A>G	Risk-factor	Intron variant
rs757259023	C>T	Risk-factor	Coding sequence variant, genic downstream transcript variant, missense variant
rs762921297	T>A	Risk-factor	Coding sequence variant, intron variant, missense variant
rs781461462	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs1114167354	T>C	Pathogenic	Missense variant, coding sequence variant

Show/Hide all(150)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006686	hsa-miR-483-3p	qRT-PCR, Western blot	22101077
MIRT039030	hsa-miR-766-3p	CLASH	23622248
MIRT038900	hsa-miR-93-3p	CLASH	23622248
MIRT692565	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT692564	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT692563	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT692562	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT692561	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT692560	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT692559	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT692558	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT692557	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT692556	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT692555	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT692554	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT692553	hsa-miR-302e	HITS-CLIP	23313552
MIRT692552	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT692551	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT692550	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT692549	hsa-miR-520b	HITS-CLIP	23313552
MIRT692548	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT692547	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT692546	hsa-miR-520e	HITS-CLIP	23313552
MIRT692545	hsa-miR-4438	HITS-CLIP	23313552
MIRT692544	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT692543	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT692542	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT692541	hsa-miR-520h	HITS-CLIP	23313552
MIRT692540	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT692539	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT692538	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT692537	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT692536	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT692535	hsa-miR-1254	HITS-CLIP	23313552
MIRT692534	hsa-miR-3116	HITS-CLIP	23313552
MIRT692533	hsa-miR-661	HITS-CLIP	23313552
MIRT692532	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT692531	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT692530	hsa-miR-2861	HITS-CLIP	23313552
MIRT692529	hsa-miR-5095	HITS-CLIP	23313552
MIRT692528	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT692527	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT692526	hsa-miR-6796-3p	HITS-CLIP	23313552
MIRT692525	hsa-miR-660-3p	HITS-CLIP	23313552
MIRT692524	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT692523	hsa-miR-6852-5p	HITS-CLIP	23313552
MIRT692522	hsa-miR-6742-3p	HITS-CLIP	23313552
MIRT692521	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT692520	hsa-miR-6791-3p	HITS-CLIP	23313552
MIRT692519	hsa-miR-6829-3p	HITS-CLIP	23313552
MIRT692518	hsa-miR-7158-5p	HITS-CLIP	23313552
MIRT692517	hsa-miR-3194-3p	HITS-CLIP	23313552
MIRT692516	hsa-miR-629-5p	HITS-CLIP	23313552
MIRT692515	hsa-miR-6792-5p	HITS-CLIP	23313552
MIRT692514	hsa-miR-1343-3p	HITS-CLIP	23313552
MIRT692513	hsa-miR-6783-3p	HITS-CLIP	23313552
MIRT692512	hsa-miR-5001-3p	HITS-CLIP	23313552
MIRT692511	hsa-miR-6836-3p	HITS-CLIP	23313552
MIRT692510	hsa-miR-6839-3p	HITS-CLIP	23313552
MIRT692509	hsa-miR-4503	HITS-CLIP	23313552
MIRT440043	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440043	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT692565	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT692564	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT692563	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT692562	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT692561	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT692560	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT692559	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT692558	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT692557	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT692556	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT692555	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT692554	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT692553	hsa-miR-302e	HITS-CLIP	23313552
MIRT692552	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT692551	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT692550	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT692549	hsa-miR-520b	HITS-CLIP	23313552
MIRT692548	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT692547	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT692546	hsa-miR-520e	HITS-CLIP	23313552
MIRT692545	hsa-miR-4438	HITS-CLIP	23313552
MIRT692544	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT692543	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT692542	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT692541	hsa-miR-520h	HITS-CLIP	23313552
MIRT692540	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT692539	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT692538	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT692537	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT692536	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT692535	hsa-miR-1254	HITS-CLIP	23313552
MIRT692534	hsa-miR-3116	HITS-CLIP	23313552
MIRT692533	hsa-miR-661	HITS-CLIP	23313552
MIRT692532	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT692531	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT692530	hsa-miR-2861	HITS-CLIP	23313552
MIRT692529	hsa-miR-5095	HITS-CLIP	23313552
MIRT692528	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT692527	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT692526	hsa-miR-6796-3p	HITS-CLIP	23313552
MIRT692525	hsa-miR-660-3p	HITS-CLIP	23313552
MIRT692524	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT692523	hsa-miR-6852-5p	HITS-CLIP	23313552
MIRT692522	hsa-miR-6742-3p	HITS-CLIP	23313552
MIRT692521	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT692520	hsa-miR-6791-3p	HITS-CLIP	23313552
MIRT692519	hsa-miR-6829-3p	HITS-CLIP	23313552
MIRT692518	hsa-miR-7158-5p	HITS-CLIP	23313552
MIRT692517	hsa-miR-3194-3p	HITS-CLIP	23313552
MIRT692516	hsa-miR-629-5p	HITS-CLIP	23313552
MIRT692515	hsa-miR-6792-5p	HITS-CLIP	23313552
MIRT692514	hsa-miR-1343-3p	HITS-CLIP	23313552
MIRT692513	hsa-miR-6783-3p	HITS-CLIP	23313552
MIRT692512	hsa-miR-5001-3p	HITS-CLIP	23313552
MIRT692511	hsa-miR-6836-3p	HITS-CLIP	23313552
MIRT692510	hsa-miR-6839-3p	HITS-CLIP	23313552
MIRT692509	hsa-miR-4503	HITS-CLIP	23313552
MIRT1213613	hsa-miR-200b	CLIP-seq
MIRT1213614	hsa-miR-200c	CLIP-seq
MIRT1213615	hsa-miR-429	CLIP-seq
MIRT1213616	hsa-miR-603	CLIP-seq
MIRT1213617	hsa-miR-3145-5p	CLIP-seq
MIRT1213618	hsa-miR-508-5p	CLIP-seq
MIRT1213619	hsa-miR-4666-3p	CLIP-seq
MIRT1213620	hsa-miR-505	CLIP-seq
MIRT1213621	hsa-miR-3074-5p	CLIP-seq
MIRT1213622	hsa-miR-4715-3p	CLIP-seq
MIRT1213623	hsa-miR-4722-3p	CLIP-seq
MIRT1213624	hsa-miR-516a-3p	CLIP-seq
MIRT2061517	hsa-miR-124	CLIP-seq
MIRT2061518	hsa-miR-425	CLIP-seq
MIRT2061519	hsa-miR-506	CLIP-seq
MIRT2061520	hsa-miR-298	CLIP-seq
MIRT2061521	hsa-miR-4462	CLIP-seq
MIRT2061522	hsa-miR-602	CLIP-seq
MIRT2061523	hsa-miR-642b	CLIP-seq
MIRT2587915	hsa-miR-1245b-3p	CLIP-seq
MIRT2587916	hsa-miR-219-5p	CLIP-seq
MIRT2587917	hsa-miR-4445	CLIP-seq
MIRT2587918	hsa-miR-4782-3p	CLIP-seq
MIRT2587919	hsa-miR-508-3p	CLIP-seq
MIRT2587920	hsa-miR-513a-5p	CLIP-seq
MIRT2587915	hsa-miR-1245b-3p	CLIP-seq
MIRT2587916	hsa-miR-219-5p	CLIP-seq
MIRT2587917	hsa-miR-4445	CLIP-seq
MIRT2587918	hsa-miR-4782-3p	CLIP-seq
MIRT2587919	hsa-miR-508-3p	CLIP-seq
MIRT2587920	hsa-miR-513a-5p	CLIP-seq

Show/Hide all(56)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IBA
GO:0005515	Function	Protein binding	IPI	10934474, 11257119, 14676191, 15161933, 15254234, 15778465, 17057644, 17979178, 18838552, 19893486, 22579248, 22653443, 26496610, 26766442, 28514442, 31980649, 33961781, 35271311, 36931259
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	ISS
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IDA	20332120
GO:0005911	Component	Cell-cell junction	IEA
GO:0005911	Component	Cell-cell junction	ISS
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IEA
GO:0005923	Component	Bicellular tight junction	IDA	14676191, 22006950
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005923	Component	Bicellular tight junction	ISS
GO:0005923	Component	Bicellular tight junction	TAS	10934474
GO:0005938	Component	Cell cortex	IBA
GO:0005938	Component	Cell cortex	IEA
GO:0006612	Process	Protein targeting to membrane	ISS
GO:0007155	Process	Cell adhesion	IBA
GO:0007163	Process	Establishment or maintenance of cell polarity	IEA
GO:0007163	Process	Establishment or maintenance of cell polarity	TAS	10934474, 14676191
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	TAS	11260256
GO:0007409	Process	Axonogenesis	TAS	14676191
GO:0008104	Process	Intracellular protein localization	IBA
GO:0008289	Function	Lipid binding	IEA
GO:0008356	Process	Asymmetric cell division	TAS	10934474
GO:0010801	Process	Negative regulation of peptidyl-threonine phosphorylation	ISS
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0022011	Process	Myelination in peripheral nervous system	ISS
GO:0030010	Process	Establishment of cell polarity	IBA
GO:0030054	Component	Cell junction	IDA
GO:0030054	Component	Cell junction	TAS
GO:0030154	Process	Cell differentiation	IEA
GO:0031643	Process	Positive regulation of myelination	ISS
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	ISS
GO:0033269	Component	Internode region of axon	ISS
GO:0035091	Function	Phosphatidylinositol binding	IBA
GO:0043296	Component	Apical junction complex	IBA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	IBA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	IDA	11257119
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	ISS
GO:0051301	Process	Cell division	IEA
GO:0051660	Process	Establishment of centrosome localization	IBA
GO:0065003	Process	Protein-containing complex assembly	TAS	10934474
GO:0070160	Component	Tight junction	NAS	11257119
GO:0070161	Component	Anchoring junction	IEA
GO:0070830	Process	Bicellular tight junction assembly	ISS
GO:0090162	Process	Establishment of epithelial cell polarity	ISS
GO:0120157	Component	PAR polarity complex	IPI	11257119
GO:0120157	Component	PAR polarity complex	ISS

MIM	HGNC	e!Ensembl
606745	16051	ENSG00000148498

Protein

UniProt ID

Q8TEW0

Protein name

Partitioning defective 3 homolog (PAR-3) (PARD-3) (Atypical PKC isotype-specific-interacting protein) (ASIP) (CTCL tumor antigen se2-5) (PAR3-alpha)

Protein function

Adapter protein involved in asymmetrical cell division and cell polarization processes (PubMed:10954424, PubMed:27925688). Seems to play a central role in the formation of epithelial tight junctions (PubMed:27925688). Targets the phosphatase PTE

PDB

2KOM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12053	Par3_HAL_N_term	1 → 83	N-terminal of Par3 and HAL proteins	Family
PF00595	PDZ	461 → 545	PDZ domain	Domain
PF00595	PDZ	590 → 680	PDZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:12234671}.

Sequence

MKVTVCFGRTRVVVPCGDGHMKVFSLIQQAVTRYRKAIAKDPNYWIQVHRLEHGDGGILD
LDDILCDVADDKDRLVAVFDEQDPHHGGDGTSASSTGTQSPEIFGSELGTNNVSAFQPYQ
ATSEIEVTPSVLRANMPLHVRRSSDPALIGLSTSVSDSNFSSEEPSRKNPTRWSTTAGFL
KQNTAGSPKTCDRKKDENYRSLPRDTSNWSNQFQRDNARSSLSASHPMVGKWLEKQEQDE
DGTEEDNSRVEPVGHADTGLEHIPNFSLDDMVKLVEVPNDGGPLGIHVVPFSARGGRTLG
LLVKRLEKGGKAEHENLFRENDCIVRINDGDLRNRRFEQAQHMFRQAMRTPIIWFHVVPA
ANKEQYEQLSQSEKNNYYSSRFSPDSQYIDNRSVNSAGLHTVQRAPRLNHPPEQIDSHSR
LPHSAHPSGKPPSAPASAPQNVFSTTVSSGYNTKKIGKRLNIQLKKGTEGLGFSITSRDV
TIGGSAPIYVKNILPRGAAIQDGRLKAGDRLIEVNGVDLVGKSQEEVVSLLRSTKMEGTV
SLLVFRQEDAFHPRELNAEPSQMQIPKETKAEDEDIVLTPDGTREFLTFEVPLNDSGSAG
LGVSVKGNRSKENHADLGIFVKSIINGGAASKDGRLRVNDQLIAVNGESLLGKTNQDAME
TLRRSMSTEGNKRGMIQLIVARRISKCNELKSPGSPPGPELPIETALDDRERRISHSLYS
GIEGLDESPSRNAALSRIMGESGKYQLSPTVNMPQDDTVIIEDDRLPVLPPHLSDQSSSS
SHDDVGFVTADAGTWAKAAISDSADCSLSPDVDPVLAFQREGFGRQSMSEKRTKQFSDAS
QLDFVKTRKSKSMDLGIADETKLNTVDDQKAGSPSRDVGPSLGLKKSSSLESLQTAVAEV
TLNGDIPFHRPRPRIIRGRGCNESFRAAIDKSYDKPAVDDDDEGMETLEEDTEESSRSGR
ESVSTASDQPSHSLERQMNGNQEKGDKTDRKKDKTGKEKKKDRDKEKDKMKAKKGMLKGL
GDMFRFGKHRKDDKIEKTGKIKIQESFTSEEERIRMKQEQERIQAKTREFRERQARERDY
AEIQDFHRTFGCDDELMYGGVSSYEGSMALNARPQSPREGHMMDALYAQVKKPRNSKPSP
VDSNRSTPSNHDRIQRLRQEFQQAKQDEDVEDRRRTYSFEQPWPNARPATQSGRHSVSVE
VQMQRQRQEERESSQQAQRQYSSLPRQSRKNASSVSQDSWEQNYSPGEGFQSAKENPRYS
SYQGSRNGYLGGHGFNARVMLETQELLRQEQRRKEQQMKKQPPSEGPSNYDSYKKVQDPS
YAPPKGPFRQDVPPSPSQVARLNRLQTPEKGRPFYS

Sequence length

1356

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
neural tube defect	Neural tube defect	rs781461462, rs1114167354	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS
Restless Legs Syndrome	Restless legs syndrome	N/A	N/A	GWAS

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alzheimer Disease	Inhibit	27072891
Anencephaly	Associate	28623428
Anodontia	Associate	28844109
Atherosclerosis	Associate	19592499
Breast Neoplasms	Associate	34023783
Carcinogenesis	Associate	24856572, 28844109, 33172988, 34023783
Carcinoma Hepatocellular	Associate	23322019, 34040099, 36105681
Carcinoma Renal Cell	Associate	24856572
Carcinoma Squamous Cell	Associate	20215515, 25303977, 33172988, 34216486
Celiac Disease	Associate	24386489
Colorectal Neoplasms	Associate	28844109, 31308265
Esophageal Squamous Cell Carcinoma	Associate	28526815
Fibrosis	Associate	36057144
Glioblastoma	Associate	20215515, 22952576
Inflammation	Associate	19592499
Inflammatory Bowel Diseases	Associate	24386489
Machado Joseph Disease	Associate	34871736
Neoplasm Metastasis	Associate	23322019, 24856572, 27119647, 29581274, 34023783
Neoplasms	Associate	20215515, 22193974, 23322019, 24856572, 25303977, 27119647, 27855669, 28526815, 28844109, 30171257, 34216486
Neural Tube Defects	Associate	28623428, 34092257
Osteosarcoma	Associate	35534464
Ovarian Neoplasms	Associate	27855669
Peritonitis	Stimulate	27855669
Prostatic Neoplasms	Associate	19737411
Prostatitis	Associate	19737411
Tertiary Lymphoid Structures	Associate	24856572
Thyroid Carcinoma Anaplastic	Associate	30171257
Thyroid Neoplasms	Associate	30171257
Triple Negative Breast Neoplasms	Associate	29581274

PARD3 (par-3 family cell polarity regulator)