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Aliases for PARD3B Gene

Aliases for PARD3B Gene

  • Par-3 Family Cell Polarity Regulator Beta 2 3 5
  • Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 19 Protein 3 4
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 19 2 3
  • Partitioning Defective 3-Like Protein 3 4
  • PAR3-L Protein 3 4
  • ALS2CR19 3 4
  • PAR3B 3 4
  • PAR3L 3 4
  • Par-3 Partitioning Defective 3 Homolog B (C. Elegans) 2
  • Par-3 Partitioning Defective 3 Homolog B 3
  • Partitioning Defective 3 Homolog B 3
  • Partitioning-Defective 3-Beta 3
  • PAR3-Beta 4
  • PAR3beta 3

External Ids for PARD3B Gene

Previous HGNC Symbols for PARD3B Gene

  • ALS2CR19

Previous GeneCards Identifiers for PARD3B Gene

  • GC02P205119
  • GC02P205410
  • GC02P197257

Summaries for PARD3B Gene

GeneCards Summary for PARD3B Gene

PARD3B (Par-3 Family Cell Polarity Regulator Beta) is a Protein Coding gene. Diseases associated with PARD3B include Amyotrophic Lateral Sclerosis 2, Juvenile. An important paralog of this gene is PARD3.

UniProtKB/Swiss-Prot for PARD3B Gene

  • Putative adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions.

Gene Wiki entry for PARD3B Gene

Additional gene information for PARD3B Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PARD3B Gene

Genomics for PARD3B Gene

GeneHancer (GH) Regulatory Elements for PARD3B Gene

Promoters and enhancers for PARD3B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J204544 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.7 +0.1 70 2.5 ARNT SIN3A ZEB1 ZNF335 GLIS2 ZNF366 SCRT2 ZNF143 ZFP91 SP3 PARD3B GC02M204717
GH02J204654 Enhancer 0.6 ENCODE dbSUPER 10.8 +109.5 109515 1.1 HLF CEBPB CEBPG PARD3B GC02M204717
GH02J204505 Enhancer 0.5 ENCODE 11.8 -39.8 -39754 1.5 ZNF316 HLF TAL1 MAFG CBFA2T3 KDM1A MAFK PARD3B LOC105373845 ENSG00000236634
GH02J204486 Enhancer 0.5 ENCODE 11 -58.7 -58664 1.5 MEIS2 IKZF1 CEBPA HMBOX1 PARD3B LOC105373845 ENSG00000236634
GH02J204574 Enhancer 0.4 ENCODE 11.4 +29.2 29246 1.6 ATF1 ATF7 MAFK PARD3B GC02M204717
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PARD3B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PARD3B gene promoter:
  • AP-2alpha isoform 4
  • AP-2alpha isoform 3
  • AP-2alpha isoform 2
  • AP-2alpha
  • HFH-1
  • AP-2alphaA
  • Tal-1beta
  • E47
  • Pax-2
  • Pax-2a

Genomic Locations for PARD3B Gene

Genomic Locations for PARD3B Gene
chr2:204,545,793-205,620,162
(GRCh38/hg38)
Size:
1,074,370 bases
Orientation:
Plus strand
chr2:205,410,516-206,484,886
(GRCh37/hg19)
Size:
1,074,371 bases
Orientation:
Plus strand

Genomic View for PARD3B Gene

Genes around PARD3B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PARD3B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PARD3B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PARD3B Gene

Proteins for PARD3B Gene

  • Protein details for PARD3B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TEW8-PAR3L_HUMAN
    Recommended name:
    Partitioning defective 3 homolog B
    Protein Accession:
    Q8TEW8
    Secondary Accessions:
    • E9PE87
    • Q8IUC7
    • Q8IUC9
    • Q96DK9
    • Q96N09
    • Q96NX6
    • Q96NX7
    • Q96Q29

    Protein attributes for PARD3B Gene

    Size:
    1205 amino acids
    Molecular mass:
    132494 Da
    Quaternary structure:
    • Interacts with PARD6B. Interacts with INSC/inscuteable.
    SequenceCaution:
    • Sequence=BAB71106.1; Type=Frameshift; Positions=528; Evidence={ECO:0000305}; Sequence=BAB71623.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PARD3B Gene

neXtProt entry for PARD3B Gene

Post-translational modifications for PARD3B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PARD3B Gene

Domains & Families for PARD3B Gene

Gene Families for PARD3B Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PARD3B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PARD3B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TEW8

UniProtKB/Swiss-Prot:

PAR3L_HUMAN :
  • 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.
  • Belongs to the PAR3 family.
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.
Family:
  • Belongs to the PAR3 family.
genes like me logo Genes that share domains with PARD3B: view

Function for PARD3B Gene

Molecular function for PARD3B Gene

UniProtKB/Swiss-Prot Function:
Putative adapter protein involved in asymmetrical cell division and cell polarization processes. May play a role in the formation of epithelial tight junctions.

Phenotypes From GWAS Catalog for PARD3B Gene

Gene Ontology (GO) - Molecular Function for PARD3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16458856
GO:0035091 phosphatidylinositol binding IBA --
genes like me logo Genes that share ontologies with PARD3B: view
genes like me logo Genes that share phenotypes with PARD3B: view

Animal Models for PARD3B Gene

MGI Knock Outs for PARD3B:
  • Pard3b Pard3b<tm1b(EUCOMM)Wtsi>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PARD3B Gene

Localization for PARD3B Gene

Subcellular locations from UniProtKB/Swiss-Prot for PARD3B Gene

Endomembrane system. Cell junction. Cell junction, tight junction. Note=Partially localized along the cell-cell contact region. Colocalizes with TJP1 to epithelial tight junctions.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PARD3B gene
Compartment Confidence
nucleus 2
cytosol 2
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Nuclear bodies (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PARD3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA --
GO:0005912 adherens junction IBA --
GO:0005913 cell-cell adherens junction IBA --
GO:0005923 bicellular tight junction IEA --
genes like me logo Genes that share ontologies with PARD3B: view

Pathways & Interactions for PARD3B Gene

SuperPathways for PARD3B Gene

No Data Available

Gene Ontology (GO) - Biological Process for PARD3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IBA --
GO:0007049 cell cycle IEA --
GO:0007155 cell adhesion IBA --
GO:0030010 establishment of cell polarity IBA --
GO:0045197 establishment or maintenance of epithelial cell apical/basal polarity IBA --
genes like me logo Genes that share ontologies with PARD3B: view

No data available for Pathways by source and SIGNOR curated interactions for PARD3B Gene

Drugs & Compounds for PARD3B Gene

(2) Drugs for PARD3B Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 1970
Oxaliplatin Approved, Investigational Pharma Antitumor agent, Platinum 1560
genes like me logo Genes that share compounds with PARD3B: view

Transcripts for PARD3B Gene

Unigene Clusters for PARD3B Gene

Par-3 partitioning defective 3 homolog B (C. elegans):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PARD3B Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
SP1: - -
SP2:
SP3:

Relevant External Links for PARD3B Gene

GeneLoc Exon Structure for
PARD3B
ECgene alternative splicing isoforms for
PARD3B

Expression for PARD3B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PARD3B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PARD3B Gene

This gene is overexpressed in Liver, secretome (49.3) and Retina (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PARD3B Gene



Protein tissue co-expression partners for PARD3B Gene

NURSA nuclear receptor signaling pathways regulating expression of PARD3B Gene:

PARD3B

SOURCE GeneReport for Unigene cluster for PARD3B Gene:

Hs.657382

mRNA Expression by UniProt/SwissProt for PARD3B Gene:

Q8TEW8-PAR3L_HUMAN
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.

Evidence on tissue expression from TISSUES for PARD3B Gene

  • Nervous system(4.3)
  • Stomach(4.1)
  • Liver(4)
genes like me logo Genes that share expression patterns with PARD3B: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PARD3B Gene

Orthologs for PARD3B Gene

This gene was present in the common ancestor of animals.

Orthologs for PARD3B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PARD3B 34 33
  • 99.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PARD3B 34 33
  • 89.35 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PARD3B 34 33
  • 87.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pard3b 16 34 33
  • 84.08 (n)
rat
(Rattus norvegicus)
Mammalia Pard3b 33
  • 83.99 (n)
oppossum
(Monodelphis domestica)
Mammalia PARD3B 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PARD3B 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves PARD3B 34 33
  • 70.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PARD3B 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pard3b 33
  • 63.25 (n)
Str.7653 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.33108 33
zebrafish
(Danio rerio)
Actinopterygii LOC562146 33
  • 57.35 (n)
PARD3B (1 of 3) 34
  • 48 (a)
OneToMany
PARD3B (2 of 3) 34
  • 42 (a)
OneToMany
PARD3B (3 of 3) 34
  • 30 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7302 33
fruit fly
(Drosophila melanogaster)
Insecta baz 34
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea par-3 34
  • 15 (a)
OneToMany
Species where no ortholog for PARD3B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PARD3B Gene

ENSEMBL:
Gene Tree for PARD3B (if available)
TreeFam:
Gene Tree for PARD3B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PARD3B: view image

Paralogs for PARD3B Gene

Paralogs for PARD3B Gene

(5) SIMAP similar genes for PARD3B Gene using alignment to 3 proteins:

  • PAR3L_HUMAN
  • E9PE87_HUMAN
  • R4GN62_HUMAN
genes like me logo Genes that share paralogs with PARD3B: view

Variants for PARD3B Gene

Sequence variations from dbSNP and Humsavar for PARD3B Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000000118 -- 204,733,075(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000000485 -- 205,343,642(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000007413 -- 205,425,051(+) T/A genic_downstream_transcript_variant, intron_variant
rs1000007648 -- 205,458,965(+) G/T genic_downstream_transcript_variant, intron_variant
rs1000015648 -- 205,241,168(+) C/G/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PARD3B Gene

Variant ID Type Subtype PubMed ID
dgv2324e59 CNV tandem duplication 20981092
dgv235n21 CNV loss 19592680
dgv4154n100 CNV loss 25217958
dgv686n67 CNV gain 20364138
esv1244765 CNV insertion 17803354
esv1280784 CNV deletion 17803354
esv1414979 CNV deletion 17803354
esv2130362 CNV deletion 18987734
esv2218789 CNV deletion 18987734
esv2480501 CNV deletion 19546169
esv25775 CNV gain 19812545
esv2662741 CNV deletion 23128226
esv2667282 CNV deletion 23128226
esv2670377 CNV deletion 23128226
esv2671711 CNV deletion 23128226
esv2677436 CNV deletion 23128226
esv2678034 CNV deletion 23128226
esv2721376 CNV deletion 23290073
esv2721377 CNV deletion 23290073
esv2721378 CNV deletion 23290073
esv2721379 CNV deletion 23290073
esv2721380 CNV deletion 23290073
esv2721381 CNV deletion 23290073
esv2721382 CNV deletion 23290073
esv2721383 CNV deletion 23290073
esv2721385 CNV deletion 23290073
esv2721386 CNV deletion 23290073
esv2751840 CNV loss 17911159
esv2759111 CNV gain 17122850
esv2763061 CNV loss 21179565
esv27735 CNV gain+loss 19812545
esv28199 CNV loss 19812545
esv29433 CNV loss 19812545
esv3303212 CNV mobile element insertion 20981092
esv3304431 CNV mobile element insertion 20981092
esv3340043 CNV insertion 20981092
esv3429037 CNV duplication 20981092
esv3560857 CNV deletion 23714750
esv3560858 CNV deletion 23714750
esv3584280 CNV loss 25503493
esv3584281 CNV loss 25503493
esv3584283 CNV loss 25503493
esv3594034 CNV loss 21293372
esv3594035 CNV loss 21293372
esv3594037 CNV loss 21293372
esv3594038 CNV loss 21293372
esv3594039 CNV loss 21293372
esv3594041 CNV gain 21293372
esv3594042 CNV loss 21293372
esv3594046 CNV loss 21293372
esv3594047 CNV loss 21293372
esv3594048 CNV loss 21293372
esv3594051 CNV loss 21293372
esv3594052 CNV loss 21293372
esv3594054 CNV loss 21293372
esv3893533 CNV gain 25118596
esv3893535 CNV loss 25118596
esv3893536 CNV loss 25118596
nsv1001799 CNV gain 25217958
nsv1002333 CNV loss 25217958
nsv1007821 CNV loss 25217958
nsv1010210 CNV loss 25217958
nsv1012780 CNV gain 25217958
nsv10213 CNV gain 18304495
nsv10214 CNV gain 18304495
nsv1073006 CNV deletion 25765185
nsv1077899 CNV duplication 25765185
nsv1114163 CNV deletion 24896259
nsv1115588 CNV duplication 24896259
nsv1131542 CNV deletion 24896259
nsv1133285 CNV tandem duplication 24896259
nsv214430 CNV deletion 16902084
nsv215415 CNV deletion 16902084
nsv3120 CNV deletion 18451855
nsv3122 CNV insertion 18451855
nsv441801 CNV gain 18776908
nsv472136 CNV novel sequence insertion 20440878
nsv473389 CNV novel sequence insertion 20440878
nsv478689 CNV novel sequence insertion 20440878
nsv508126 OTHER sequence alteration 20534489
nsv508881 CNV insertion 20534489
nsv514983 CNV loss 21397061
nsv517619 CNV loss 19592680
nsv523965 CNV loss 19592680
nsv525418 CNV loss 19592680
nsv584243 CNV loss 21841781
nsv584244 CNV loss 21841781
nsv584245 CNV loss 21841781
nsv819159 CNV gain 19587683
nsv820342 CNV deletion 20802225
nsv834514 CNV gain 17160897

Variation tolerance for PARD3B Gene

Residual Variation Intolerance Score: 73.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.68; 72.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PARD3B Gene

Human Gene Mutation Database (HGMD)
PARD3B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PARD3B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PARD3B Gene

Disorders for PARD3B Gene

MalaCards: The human disease database

(1) MalaCards diseases for PARD3B Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 2, juvenile
  • als2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PARD3B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PARD3B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PARD3B Gene

Publications for PARD3B Gene

  1. PAR3beta, a novel homologue of the cell polarity protein PAR3, localizes to tight junctions. (PMID: 12459187) Kohjima M … Sumimoto H (Biochemical and biophysical research communications 2002) 2 3 4 58
  2. Multiple splice variants of Par3 and of a novel related gene, Par3L, produce proteins with different binding properties. (PMID: 12234671) Gao L … Joberty G (Gene 2002) 3 4 22 58
  3. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PMID: 11586298) Hadano S … Ikeda JE (Nature genetics 2001) 2 3 4 58
  4. Genome-wide association study implicates PARD3B-based AIDS restriction. (PMID: 21502085) Troyer JL … O'Brien SJ (The Journal of infectious diseases 2011) 3 44 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for PARD3B Gene

Sources for PARD3B Gene

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