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

Gene ID: 117583, updated on 8-May-2016
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 HPRD:09795; Vega:OTTHUMG00000154562
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
Orthologs
Location:
2q33.3
Exon count:
27
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (204545793..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 uncharacterized LOC105373846 Neighboring gene uncharacterized LOC105373847 Neighboring gene neuropilin 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ92364, MGC16131

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
bicellular tight junction IEA
Inferred from Electronic Annotation
more info
 
endomembrane system IEA
Inferred from Electronic Annotation
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
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

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_001302769.1NP_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, AF428250, BF434006
    Consensus CDS
    CCDS77511.1
    UniProtKB/Swiss-Prot
    Q8TEW8
    Related
    ENSP00000385848, OTTHUMP00000206092, ENST00000406610, OTTHUMT00000335992
    Conserved Domains (2) summary
    pfam12053
    Location:1143
    DUF3534; Domain of unknown function (DUF3534)
    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) ...
  2. NM_057177.6NP_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, OTTHUMP00000206094, ENST00000351153, OTTHUMT00000335994
    Conserved Domains (2) summary
    pfam12053
    Location:1143
    DUF3534; Domain of unknown function (DUF3534)
    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) ...
  3. NM_152526.5NP_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, OTTHUMP00000206093, ENST00000358768, OTTHUMT00000335993
    Conserved Domains (2) summary
    pfam12053
    Location:1143
    DUF3534; Domain of unknown function (DUF3534)
    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) ...
  4. NM_205863.3NP_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, OTTHUMP00000206095, ENST00000349953, OTTHUMT00000335995
    Conserved Domains (2) summary
    pfam12053
    Location:1143
    DUF3534; Domain of unknown function (DUF3534)
    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) ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

    Range
    204545793..205620162
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510550.1XP_011508852.1  

    Conserved Domains (2) summary
    pfam12053
    Location:1143
    DUF3534; Domain of unknown function (DUF3534)
    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) ...
  2. XM_011510551.1XP_011508853.1  

    Conserved Domains (2) summary
    pfam12053
    Location:1143
    DUF3534; Domain of unknown function (DUF3534)
    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) ...
  3. XM_011510552.1XP_011508854.1  

    Conserved Domains (2) summary
    pfam12053
    Location:42151
    DUF3534; Domain of unknown function (DUF3534)
    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) ...
  4. XM_011510553.1XP_011508855.1  

    Related
    ENSP00000473503, OTTHUMP00000272108, ENST00000462231, OTTHUMT00000335996
    Conserved Domains (2) summary
    pfam12053
    Location:42151
    DUF3534; Domain of unknown function (DUF3534)
    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) ...

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    205417249..206491622
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)