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

    Gene ID: 117583, updated on 10-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in kidney (RPKM 1.4), fat (RPKM 1.3) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (10 hits/1267 screens)

    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

    Interactions

    General gene information

    Clone Names

    • FLJ92364, MGC16131

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol binding  
    enables protein binding PubMed 
    Process Evidence Code Pubs
    involved_in cell adhesion  
    involved_in cell division  
    involved_in establishment of cell polarity  
    involved_in establishment of centrosome localization  
    involved_in establishment or maintenance of epithelial cell apical/basal polarity  
    involved_in microtubule cytoskeleton organization  
    involved_in protein localization  
    Component Evidence Code Pubs
    is_active_in adherens junction  
    is_active_in apical junction complex  
    is_active_in apical plasma membrane  
    located_in bicellular tight junction  
    is_active_in cell cortex  
    located_in cell junction  
    located_in endomembrane system  
    part_of protein-containing complex PubMed 

    General protein information

    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)

    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

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