Human Gene PARD3B (ENST00000406610.7_6) from GENCODE V47lift37
  Description: par-3 family cell polarity regulator beta, transcript variant 1 (from RefSeq NM_001302769.2)
Gencode Transcript: ENST00000406610.7_6
Gencode Gene: ENSG00000116117.20_11
Transcript (Including UTRs)
   Position: hg19 chr2:205,410,198-206,484,886 Size: 1,074,689 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg19 chr2:205,410,723-206,480,537 Size: 1,069,815 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:205,410,198-206,484,886)mRNA (may differ from genome)Protein (1205 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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-  Comments and Description Text from UniProtKB
  ID: PAR3L_HUMAN
DESCRIPTION: RecName: Full=Partitioning defective 3 homolog B; AltName: Full=Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 19 protein; AltName: Full=PAR3-beta; AltName: Full=Partitioning defective 3-like protein; Short=PAR3-L 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.
SUBUNIT: Interacts with PARD6B. Interacts with INSC/inscuteable.
SUBCELLULAR LOCATION: Endomembrane system. Cell junction. Cell junction, tight junction. Note=Partially localized along the cell- cell contact region. Colocalizes with TJP1 to epithelial tight junctions.
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.
DOMAIN: The N-terminal part (1-351) part blocks the association of the tight junction marker TJP1 with the cell-cell boundary when it is overexpressed.
SIMILARITY: Belongs to the PAR3 family.
SIMILARITY: Contains 3 PDZ (DHR) domains.
SEQUENCE CAUTION: Sequence=BAB71106.1; Type=Frameshift; Positions=528; Sequence=BAB71623.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PARD3B
Diseases sorted by gene-association score: amyotrophic lateral sclerosis 2, juvenile (8)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.78 RPKM in Nerve - Tibial
Total median expression: 131.00 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -316.80525-0.603 Picture PostScript Text
3' UTR -1196.504349-0.275 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR021922 - DUF3534
IPR001478 - PDZ

Pfam Domains:
PF00595 - PDZ domain
PF12053 - N-terminal of Par3 and HAL proteins
PF13180 - PDZ domain
PF17820 - PDZ domain

SCOP Domains:
50156 - PDZ domain-like

ModBase Predicted Comparative 3D Structure on Q8TEW8
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0007049 cell cycle
GO:0051301 cell division

Cellular Component:
GO:0005654 nucleoplasm
GO:0005923 bicellular tight junction
GO:0012505 endomembrane system
GO:0016020 membrane
GO:0016604 nuclear body
GO:0030054 cell junction
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  AB053321 - Homo sapiens ALS2CR19 mRNA, complete cds.
AX765741 - Sequence 57 from Patent WO02055706.
AX765687 - Sequence 3 from Patent WO02055706.
AK056157 - Homo sapiens cDNA FLJ31595 fis, clone NT2RI2002517, weakly similar to Homo sapiens PAR3 mRNA.
BC156252 - Synthetic construct Homo sapiens clone IMAGE:100061657, MGC:190065 par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B) mRNA, encodes complete protein.
BC172499 - Synthetic construct Homo sapiens clone IMAGE:100069193, MGC:199204 par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B) mRNA, encodes complete protein.
AB073472 - Homo sapiens mRNA for PAR3 beta, complete cds.
AB092439 - Homo sapiens mRNA for PAR3 beta alternatively spliced form, complete cds.
AF428250 - Homo sapiens partitioning-defective 3-like protein splice variant a (PAR3L) mRNA, complete cds; alternatively spliced.
AF428251 - Homo sapiens partitioning-defective 3-like protein splice variant b (PAR3L) mRNA, complete cds; alternatively spliced.
AF466152 - Homo sapiens partitioning-defective 3-like protein splice variant c (PAR3L) mRNA, complete cds; alternatively spliced.
AK057965 - Homo sapiens cDNA FLJ25236 fis, clone STM02096.
JD216992 - Sequence 198016 from Patent EP1572962.
JD474340 - Sequence 455364 from Patent EP1572962.
AX765692 - Sequence 8 from Patent WO02055706.
AX765688 - Sequence 4 from Patent WO02055706.
AX765742 - Sequence 58 from Patent WO02055706.
AL832951 - Homo sapiens mRNA; cDNA DKFZp666K2410 (from clone DKFZp666K2410).
AK312083 - Homo sapiens cDNA, FLJ92364.
BC012984 - Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans), mRNA (cDNA clone IMAGE:3628944).
LF205218 - JP 2014500723-A/12721: Polycomb-Associated Non-Coding RNAs.
BC068029 - Homo sapiens cDNA clone IMAGE:30394954, partial cds.
JD104395 - Sequence 85419 from Patent EP1572962.
JD446577 - Sequence 427601 from Patent EP1572962.
LF317866 - JP 2014500723-A/125369: Polycomb-Associated Non-Coding RNAs.
LF317867 - JP 2014500723-A/125370: Polycomb-Associated Non-Coding RNAs.
JD376872 - Sequence 357896 from Patent EP1572962.
JD396367 - Sequence 377391 from Patent EP1572962.
JD207517 - Sequence 188541 from Patent EP1572962.
JD312952 - Sequence 293976 from Patent EP1572962.
JD424998 - Sequence 406022 from Patent EP1572962.
JD444976 - Sequence 426000 from Patent EP1572962.
JD561224 - Sequence 542248 from Patent EP1572962.
JD300363 - Sequence 281387 from Patent EP1572962.
JD555953 - Sequence 536977 from Patent EP1572962.
MA440795 - JP 2018138019-A/12721: Polycomb-Associated Non-Coding RNAs.
MA553443 - JP 2018138019-A/125369: Polycomb-Associated Non-Coding RNAs.
MA553444 - JP 2018138019-A/125370: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ALS2CR19, E9PE87, ENST00000406610.1, ENST00000406610.2, ENST00000406610.3, ENST00000406610.4, ENST00000406610.5, ENST00000406610.6, NM_001302769, PAR3B, PAR3L, PAR3L_HUMAN, Q8IUC7, Q8IUC9, Q8TEW8, Q96DK9, Q96N09, Q96NX6, Q96NX7, Q96Q29, uc319dnv.1, uc319dnv.2
UCSC ID: ENST00000406610.7_6
RefSeq Accession: NM_001302769.2
Protein: Q8TEW8 (aka PAR3L_HUMAN or PA3L_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.