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    PARD3B par-3 family cell polarity regulator beta [ Homo sapiens (human) ]

    Gene ID: 117583, updated on 26-Nov-2024

    Summary

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    Official Symbol
    PARD3Bprovided by HGNC
    Official Full Name
    par-3 family cell polarity regulator betaprovided by HGNC
    Primary source
    HGNC:HGNC:14446
    See related
    Ensembl:ENSG00000116117 MIM:619353; AllianceGenome:HGNC:14446
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PAR3B; PAR3L; ALS2CR19; PAR3beta
    Summary
    Predicted to enable phosphatidylinositol binding activity. Predicted to be involved in several processes, including establishment of cell polarity; establishment of centrosome localization; and establishment or maintenance of epithelial cell apical/basal polarity. Located in cell junction. Part of protein-containing complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 1.4), fat (RPKM 1.3) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PARD3B in Genome Data Viewer
    Location:
    2q33.3
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (204545475..205620162)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (205027774..206102476)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (205410198..206484886)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene carboxymethylenebutenolidase homolog (Pseudomonas) pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr2:205302984-205303531 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:205316652-205317851 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:205318757-205319257 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:205338259-205339458 Neighboring gene uncharacterized LOC105373845 Neighboring gene MPRA-validated peak4022 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12260 Neighboring gene uncharacterized LOC124907967 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:205529451-205530018 Neighboring gene uncharacterized LOC124907968 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:205562341-205563540 Neighboring gene NANOG hESC enhancer GRCh37_chr2:205689833-205690426 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:205860967-205861560 Neighboring gene NANOG hESC enhancer GRCh37_chr2:205897477-205897980 Neighboring gene NANOG hESC enhancer GRCh37_chr2:206072806-206073307 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:206078371-206078958 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:206099834-206101033 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:206140682-206141288 Neighboring gene NANOG hESC enhancer GRCh37_chr2:206211338-206211871 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:206543139-206544338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:206549220-206549850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:206560188-206561022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:206572851-206573627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17021 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:206584967-206585532 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:206585533-206586096 Neighboring gene Sharpr-MPRA regulatory region 14521 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:206611361-206611912 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:206612879-206613502 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:206613503-206614126 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:206614127-206614749 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:206617009-206618208 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:206646133-206646356 Neighboring gene NANOG hESC enhancer GRCh37_chr2:206661289-206661790 Neighboring gene uncharacterized LOC105373847 Neighboring gene NANOG hESC enhancer GRCh37_chr2:206700713-206701214 Neighboring gene uncharacterized LOC124907969 Neighboring gene neuropilin 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Par3L enhances colorectal cancer cell survival by inhibiting Lkb1/AMPK signaling pathway. Li T, et al. Biochem Biophys Res Commun, 2017 Jan 22. PMID 27908725
    2. High expression of partitioning defective 3-like protein is associated with malignancy in colorectal cancer. Li T, et al. Tumour Biol, 2017 Apr. PMID 28443499
    3. Phosphorylation-dependent binding of 14-3-3 to Par3beta, a human Par3-related cell polarity protein. Izaki T, et al. Biochem Biophys Res Commun, 2005 Apr 1. PMID 15721295
    4. Individual common variants exert weak effects on the risk for autism spectrum disorders. Anney R, et al. Hum Mol Genet, 2012 Nov 1. PMID 22843504, Free PMC Article
    5. VIRMA facilitates intrahepatic cholangiocarcinoma progression through epigenetic augmentation of TMED2 and PARD3B mRNA stabilization. Xu H, et al. J Gastroenterol, 2023 Sep. PMID 37391589

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. VIRMA facilitates intrahepatic cholangiocarcinoma progression through epigenetic augmentation of TMED2 and PARD3B mRNA stabilization.
      Title: VIRMA facilitates intrahepatic cholangiocarcinoma progression through epigenetic augmentation of TMED2 and PARD3B mRNA stabilization.
    2. Par-3 family proteins in cell polarity & adhesion.
      Title: Par-3 family proteins in cell polarity & adhesion.
    3. artitioning defective 3-like protein may serve as a promising prognostic marker and a potential therapeutic target for colorectal cancer treatment. Further study is necessary to understand the regulatory mechanism of partitioning defective 3-like protein in colorectal cancer and the feasibility of its application in clinic.
      Title: High expression of partitioning defective 3-like protein is associated with malignancy in colorectal cancer.
    4. Par3L interacts with Lkb1 and regulates the activity of AMPK signaling cascade.
      Title: Par3L enhances colorectal cancer cell survival by inhibiting Lkb1/AMPK signaling pathway.
    5. The association of single-nucleotide polymorphisms of PARD3B with slower progression of HIV infection to AIDS is reported.
      Title: Genome-wide association study implicates PARD3B-based AIDS restriction.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
    7. Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Association of genetic polymorphisms with hepatotoxicity in patients with childhood acute lymphoblastic leukemia or lymphoma.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    9. PAR3beta, expressed intrinsically or extrinsically, localizes to the tight junctions, indicating that the localization does not require the ternary complex formation.
      Title: PAR3beta, a novel homologue of the cell polarity protein PAR3, localizes to tight junctions.
    10. binding of 14-3-3 to Par3beta is dependent on phosphorylation
      Title: Phosphorylation-dependent binding of 14-3-3 to Par3beta, a human Par3-related cell polarity protein.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.
    EBI GWAS Catalog
    Genome-wide association scan identifies a prostaglandin-endoperoxide synthase 2 variant involved in risk of knee osteoarthritis.
    EBI GWAS Catalog
    Genome-wide association study implicates PARD3B-based AIDS restriction.
    EBI GWAS Catalog
    Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.
    EBI GWAS Catalog
    Individual common variants exert weak effects on the risk for autism spectrum disorderspi.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in establishment of cell polarity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in establishment of centrosome localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in establishment or maintenance of epithelial cell apical/basal polarity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in adherens junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in apical junction complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in bicellular tight junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cell cortex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    partitioning defective 3 homolog B
    Names
    PAR3-L protein
    amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19
    amyotrophic lateral sclerosis 2 chromosomal region candidate gene 19 protein
    par-3 partitioning defective 3 homolog B
    partitioning defective 3-like protein
    partitioning-defective 3-beta

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001302769.2 → NP_001289698.1  partitioning defective 3 homolog B isoform Par3La

      See identical proteins and their annotated locations for NP_001289698.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (Par3La).
      Source sequence(s)
      AC007385, AC007465, AC008171, AC009316, AC016903, AF428250, BF434006
      Consensus CDS
      CCDS77511.1
      UniProtKB/Swiss-Prot
      E9PE87, Q8IUC7, Q8IUC9, Q8TEW8, Q96DK9, Q96N09, Q96NX6, Q96NX7, Q96Q29
      Related
      ENSP00000385848.2, ENST00000406610.7
      Conserved Domains (2) summary
      cd00992
      Location:387 → 467
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam12053
      Location:1 → 143
      DUF3534; Domain of unknown function (DUF3534)

    2. NM_057177.7 → NP_476518.4  partitioning defective 3 homolog B isoform Par3Lc

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (Par3Lc) is shorter compared to isoform Par3La.
      Source sequence(s)
      AC007385, AC007465, AC007736, AC007746, AC008171, AC009316, AC011750, AC016903
      Consensus CDS
      CCDS42805.1
      Related
      ENSP00000317261.2, ENST00000351153.5
      Conserved Domains (2) summary
      cd00992
      Location:387 → 467
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam12053
      Location:1 → 143
      DUF3534; Domain of unknown function (DUF3534)

    3. NM_152526.6 → NP_689739.4  partitioning defective 3 homolog B isoform Par3Lb

      See identical proteins and their annotated locations for NP_689739.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (Par3Lb) is shorter compared to isoform Par3La.
      Source sequence(s)
      AC007385, AC007465, AC007736, AC007746, AC008171, AC009316, AC011750, AC016903
      Consensus CDS
      CCDS42806.1
      Related
      ENSP00000351618.2, ENST00000358768.6
      Conserved Domains (2) summary
      cd00992
      Location:387 → 467
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam12053
      Location:1 → 143
      DUF3534; Domain of unknown function (DUF3534)

    4. NM_205863.4 → NP_995585.2  partitioning defective 3 homolog B isoform 4

      See identical proteins and their annotated locations for NP_995585.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) is shorter compared to isoform Par3La.
      Source sequence(s)
      AC007385, AC007465, AC007736, AC008171, AC009316, AC011750, AC016903
      Consensus CDS
      CCDS42804.1
      Related
      ENSP00000340280.3, ENST00000349953.7
      Conserved Domains (2) summary
      cd00992
      Location:387 → 467
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam12053
      Location:1 → 143
      DUF3534; Domain of unknown function (DUF3534)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      204545475..205620162
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443208.1 → XP_047299164.1  partitioning defective 3 homolog B isoform X1

    2. XM_017003285.2 → XP_016858774.1  partitioning defective 3 homolog B isoform X4

    3. XM_017003288.2 → XP_016858777.1  partitioning defective 3 homolog B isoform X7

    4. XM_011510552.3 → XP_011508854.1  partitioning defective 3 homolog B isoform X1

      Conserved Domains (2) summary
      cd00992
      Location:395 → 475
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam12053
      Location:44 → 151
      DUF3534; Domain of unknown function (DUF3534)

    5. XM_017003287.2 → XP_016858776.1  partitioning defective 3 homolog B isoform X6

    6. XM_017003292.2 → XP_016858781.1  partitioning defective 3 homolog B isoform X10

      Conserved Domains (2) summary
      smart00228
      Location:1 → 91
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00992
      Location:188 → 268
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

    7. XM_011510553.3 → XP_011508855.1  partitioning defective 3 homolog B isoform X11

      Conserved Domains (2) summary
      cd00992
      Location:395 → 475
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      pfam12053
      Location:44 → 151
      DUF3534; Domain of unknown function (DUF3534)

    8. XM_017003294.2 → XP_016858783.1  partitioning defective 3 homolog B isoform X12

    9. XM_017003284.2 → XP_016858773.1  partitioning defective 3 homolog B isoform X3

    10. XM_047443209.1 → XP_047299165.1  partitioning defective 3 homolog B isoform X8

    11. XM_017003286.2 → XP_016858775.1  partitioning defective 3 homolog B isoform X5

    12. XM_017003283.2 → XP_016858772.1  partitioning defective 3 homolog B isoform X2

    13. XM_017003289.1 → XP_016858778.1  partitioning defective 3 homolog B isoform X9

    14. XM_017003293.2 → XP_016858782.1  partitioning defective 3 homolog B isoform X10

      Conserved Domains (2) summary
      smart00228
      Location:1 → 91
      PDZ; Domain present in PSD-95, Dlg, and ZO-1/2
      cd00992
      Location:188 → 268
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      205027774..206102476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340413.1 → XP_054196388.1  partitioning defective 3 homolog B isoform X1

    2. XM_054340417.1 → XP_054196392.1  partitioning defective 3 homolog B isoform X4

    3. XM_054340420.1 → XP_054196395.1  partitioning defective 3 homolog B isoform X7

    4. XM_054340414.1 → XP_054196389.1  partitioning defective 3 homolog B isoform X1

    5. XM_054340419.1 → XP_054196394.1  partitioning defective 3 homolog B isoform X6

    6. XM_054340423.1 → XP_054196398.1  partitioning defective 3 homolog B isoform X10

    7. XM_054340425.1 → XP_054196400.1  partitioning defective 3 homolog B isoform X11

    8. XM_054340426.1 → XP_054196401.1  partitioning defective 3 homolog B isoform X12

    9. XM_054340416.1 → XP_054196391.1  partitioning defective 3 homolog B isoform X3

    10. XM_054340421.1 → XP_054196396.1  partitioning defective 3 homolog B isoform X8

    11. XM_054340418.1 → XP_054196393.1  partitioning defective 3 homolog B isoform X5

    12. XM_054340415.1 → XP_054196390.1  partitioning defective 3 homolog B isoform X2

    13. XM_054340422.1 → XP_054196397.1  partitioning defective 3 homolog B isoform X9

    14. XM_054340424.1 → XP_054196399.1  partitioning defective 3 homolog B isoform X10

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TEW8.2 GenPept UniProtKB/Swiss-Prot:Q8TEW8

    Gene LinkOut

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