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

Gene ID: 117583, updated on 4-Jun-2020

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
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
Expression
Ubiquitous expression in kidney (RPKM 1.4), fat (RPKM 1.3) and 24 other tissues See more
Orthologs

Genomic context

See PARD3B in Genome Data Viewer
Location:
2q33.3
Exon count:
33
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (204545475..205620162)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (205410516..206484886)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene carboxymethylenebutenolidase homolog (Pseudomonas) pseudogene Neighboring gene uncharacterized LOC105373845 Neighboring gene Sharpr-MPRA regulatory region 14521 Neighboring gene uncharacterized LOC105373847 Neighboring gene neuropilin 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ92364, MGC16131

Gene Ontology Provided by GOA

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

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_001302769.2NP_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
    Q8TEW8
    Related
    ENSP00000385848.2, ENST00000406610.7
    Conserved Domains (2) summary
    cd00992
    Location:387467
    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:1143
    DUF3534; Domain of unknown function (DUF3534)
  2. NM_057177.7NP_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
    UniProtKB/Swiss-Prot
    Q8TEW8
    Related
    ENSP00000317261.2, ENST00000351153.5
    Conserved Domains (2) summary
    cd00992
    Location:387467
    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:1143
    DUF3534; Domain of unknown function (DUF3534)
  3. NM_152526.6NP_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
    UniProtKB/Swiss-Prot
    Q8TEW8
    Related
    ENSP00000351618.2, ENST00000358768.6
    Conserved Domains (2) summary
    cd00992
    Location:387467
    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:1143
    DUF3534; Domain of unknown function (DUF3534)
  4. NM_205863.4NP_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
    UniProtKB/Swiss-Prot
    Q8TEW8
    Related
    ENSP00000340280.3, ENST00000349953.7
    Conserved Domains (2) summary
    cd00992
    Location:387467
    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:1143
    DUF3534; Domain of unknown function (DUF3534)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017003291.1XP_016858780.1  partitioning defective 3 homolog B isoform X9

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

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

  4. XM_011510552.2XP_011508854.1  partitioning defective 3 homolog B isoform X1

    Conserved Domains (2) summary
    cd00992
    Location:395475
    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:44151
    DUF3534; Domain of unknown function (DUF3534)
  5. XM_017003287.1XP_016858776.1  partitioning defective 3 homolog B isoform X6

  6. XM_017003290.1XP_016858779.1  partitioning defective 3 homolog B isoform X9

  7. XM_017003292.1XP_016858781.1  partitioning defective 3 homolog B isoform X9

  8. XM_011510553.2XP_011508855.1  partitioning defective 3 homolog B isoform X10

    Related
    ENSP00000473503.1, ENST00000462231.5
    Conserved Domains (2) summary
    cd00992
    Location:395475
    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:44151
    DUF3534; Domain of unknown function (DUF3534)
  9. XM_017003294.1XP_016858783.1  partitioning defective 3 homolog B isoform X11

  10. XM_017003284.1XP_016858773.1  partitioning defective 3 homolog B isoform X3

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

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

  13. XM_017003289.1XP_016858778.1  partitioning defective 3 homolog B isoform X8

  14. XM_017003293.1XP_016858782.1  partitioning defective 3 homolog B isoform X9

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