Gene Gene information from NCBI Gene database.
Entrez ID 56288
Gene name Par-3 family cell polarity regulator
Gene symbol PARD3
Synonyms (NCBI Gene)
ASIPBazPAR3PAR3alphaPARD-3PARD3APPP1R118SE2-5L16SE2-5LT1SE2-5T2
Chromosome 10
Chromosome location 10p11.22-p11.21
Summary 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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
150
miRTarBase ID miRNA Experiments Reference
MIRT006686 hsa-miR-483-3p qRT-PCRWestern 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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606745 16051 ENSG00000148498
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
LDDILCDVADDKDRLVAVFDEQD
PHHGGDGTSASSTGTQSPEIFGSELGTNNVSAFQPYQ
ATSEIEVTPSVLRANMPLHVRRSSDPALIGLSTSVSDSNFSSEEPSRKNPTRWSTTAGFL
KQNTAGSPKTCDRKKDENYRSLPRDTSNWSNQFQRDNARSSLSASHPMVGKWLEKQEQDE
DGTEEDNSRVEPVGHADTGLEHIPNFSLDDMVKLVEVPNDGGPLGIHVVPFSARGGRTLG
LLVKRLEKGGKAEHENLFRENDCIVRINDGDLRNRRFEQAQHMFRQAMRTPIIWFHVVPA
ANKEQYEQLSQSEKNNYYSSRFSPDSQYIDNRSVNSAGLHTVQRAPRLNHPPEQIDSHSR
LPHSAHPSGKPPSAPASAPQNVFSTTVSSGYNTKKIGKRLNIQLKKGTEGLGFSITSRDV
TIGGSAPIYVKNILPRGAAIQDGRLKAGDRLIEVNGVDLVGKSQEEVVSLLRSTKMEGTV
SLLVF
RQEDAFHPRELNAEPSQMQIPKETKAEDEDIVLTPDGTREFLTFEVPLNDSGSAG
LGVSVKGNRSKENHADLGIFVKSIINGGAASKDGRLRVNDQLIAVNGESLLGKTNQDAME
TLRRSMSTEGNKRGMIQLIV
ARRISKCNELKSPGSPPGPELPIETALDDRERRISHSLYS
GIEGLDESPSRNAALSRIMGESGKYQLSPTVNMPQDDTVIIEDDRLPVLPPHLSDQSSSS
SHDDVGFVTADAGTWAKAAISDSADCSLSPDVDPVLAFQREGFGRQSMSEKRTKQFSDAS
QLDFVKTRKSKSMDLGIADETKLNTVDDQKAGSPSRDVGPSLGLKKSSSLESLQTAVAEV
TLNGDIPFHRPRPRIIRGRGCNESFRAAIDKSYDKPAVDDDDEGMETLEEDTEESSRSGR
ESVSTASDQPSHSLERQMNGNQEKGDKTDRKKDKTGKEKKKDRDKEKDKMKAKKGMLKGL
GDMFRFGKHRKDDKIEKTGKIKIQESFTSEEERIRMKQEQERIQAKTREFRERQARERDY
AEIQDFHRTFGCDDELMYGGVSSYEGSMALNARPQSPREGHMMDALYAQVKKPRNSKPSP
VDSNRSTPSNHDRIQRLRQEFQQAKQDEDVEDRRRTYSFEQPWPNARPATQSGRHSVSVE
VQMQRQRQEERESSQQAQRQYSSLPRQSRKNASSVSQDSWEQNYSPGEGFQSAKENPRYS
SYQGSRNGYLGGHGFNARVMLETQELLRQEQRRKEQQMKKQPPSEGPSNYDSYKKVQDPS
YAPPKGPFRQDVPPSPSQVARLNRLQTPEKGRPFYS
Sequence length 1356
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neural tube defect Pathogenic rs781461462, rs1114167354 RCV000490790
RCV000490779
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIAC ARREST GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 12518376, 26457809, 28060110, 28440015, 29165013, 29217160
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 24386489
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 16320248
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 29220829
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 12518376, 28060110, 28440015, 29165013
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 27072891 Inhibit
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 12684256, 15033338, 15885796, 20132478
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 28096290
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 30171257
★☆☆☆☆
Found in Text Mining only
Anencephaly Anencephaly Pubtator 28623428 Associate
★☆☆☆☆
Found in Text Mining only