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Gene Gene information from NCBI Gene database.
Entrez ID 117583
Gene name Par-3 family cell polarity regulator beta
Gene symbol PARD3B
Synonyms (NCBI Gene)
ALS2CR19PAR3BPAR3LPAR3beta
Chromosome 2
Chromosome location 2q33.3
miRNA miRNA information provided by mirtarbase database.
436 Show/Hide all (436)
miRTarBase ID miRNA Experiments Reference
MIRT709221 hsa-miR-4267 HITS-CLIP 19536157
MIRT709220 hsa-miR-3688-5p HITS-CLIP 19536157
MIRT709219 hsa-miR-891a-3p HITS-CLIP 19536157
MIRT709218 hsa-miR-6512-3p HITS-CLIP 19536157
MIRT709217 hsa-miR-6720-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20 Show/Hide all (20)
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IBA
GO:0005515 Function Protein binding IPI 16458856
GO:0005912 Component Adherens junction IBA
GO:0005923 Component Bicellular tight junction IEA
GO:0005938 Component Cell cortex IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619353 14446 ENSG00000116117
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TEW8
Protein name Partitioning defective 3 homolog B (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 19 protein) (PAR3-beta) (Partitioning defective 3-like protein) (PAR3-L protein)
Protein function Putative adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 382 → 467 PDZ domain Domain
PF00595 PDZ 498 → 589 PDZ domain Domain
PF12053 Par3_HAL_N_term 1 → 83 N-terminal of Par3 and HAL proteins Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in kidney, lung and skeletal muscle. Expressed at intermediate levels in brain, heart, placenta, liver and pancreas. Isoform 1 is predominant, while isoform 2 and isoform 3 are expressed at lower levels.
Sequence
MKVTVCFGRTGIVVPCKEGQLRVGELTQQALQRYLKTREKGPGYWVKIHHLEYTDGGILD
PDDVLADVVEDKDKLIAVFEEQE
PLHKIESPSGNPADRQSPDAFETEVAAQLAAFKPIGG
EIEVTPSALKLGTPLLVRRSSDPVPGPPADTQPSASHPGGQSLKLVVPDSTQNLEDREVL
NGVQTELLTSPRTKDTLSDMTRTVEISGEGGPLGIHVVPFFSSLSGRILGLFIRGIEDNS
RSKREGLFHENECIVKINNVDLVDKTFAQAQDVFRQAMKSPSVLLHVLPPQNREQYEKSV
IGSLNIFGNNDGVLKTKVPPPVHGKSGLKTANLTGTDSPETDASASLQQNKSPRVPRLGG
KPSSPSLSPLMGFGSNKNAKKIKIDLKKGPEGLGFTVVTRDSSIHGPGPIFVKNILPKGA
AIKDGRLQSGDRILEVNGRDVTGRTQEELVAMLRSTKQGETASLVIA
RQEGHFLPRELKG
EPDCCALSLETSEQLTFEIPLNDSGSAGLGVSLKGNKSRETGTDLGIFIKSIIHGGAAFK
DGRLRMNDQLIAVNGESLLGKSNHEAMETLRRSMSMEGNIRGMIQLVIL
RRPERPMEDPA
ECGAFSKPCFENCQNAVTTSRRNDNSILHPLGTCSPQDKQKGLLLPNDGWAESEVPPSPT
PHSALGLGLEDYSHSSGVDSAVYFPDQHINFRSVTPARQPESINLKASKSMDLVPDESKV
HSLAGQKSESPSKDFGPTLGLKKSSSLESLQTAVAEVRKNDLPFHRPRPHMVRGRGCNES
FRAAIDKSYDGPEEIEADGLSDKSSHSGQGALNCESAPQGNSELEDMENKARKVKKTKEK
EKKKEKGKLKVKEKKRKEENEDPERKIKKKGFGAMLRFGKKKEDKGGKAEQKGTLKHGGL
REEELEKMKEERERIGAKHQELREKQARGLLDYATGAIGSVYDMDDDEMDPNYARVNHFR
EPCTSANVFRSPSPPRAGPFGYPRDGHPLSPERDHLEGLYAKVNKPYHPLVPADSGRPTG
GSTDRIQKLRKEYYQARREGFPLYEDDEGRARPSEYDLLWVPGRGPDGNAHNLRFEGMER
QYASLPRGGPADPVDYLPAAPRGLYKERELPYYPGAHPMHPPKGSYPRPTELRVADLRYP
QHYPPPPAPQHKGPFRQDVPPSPPQHQRMPAYQETGRPGPRGGSPDQYPYRTQDSRQKNP
MTAAV
Sequence length 1205
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
27
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)
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.
Show/Hide Unknown Diseases (27)
Phenotype Name Clinical Significance Source Reference Evidence Score
ASTHMA — GWAS catalog 25918132
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION — GWAS catalog 40645996
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 23527680, 30563984
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM — GWAS catalog 22843504
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (11)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma GWASCAT_DG 25918132
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autistic Disorder Autism GWASDB_DG 22843504
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism GWASCAT_DG 22843504
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 27908725, 28443499
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 28443499 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Goldenhar Syndrome Goldenhar Syndrome GWASCAT_DG 26853712
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 28443499
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 28443499
★★★★★
★☆☆☆☆
Found in Text Mining only
Neurodevelopmental Disorders Neurodevelopmental Disorders CTD_human_DG 28191889
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations