• Gene id: 117583

Gene Summary

• Gene Symbol: PARD3B   Gene   UCSC   Ensembl
• Aliases: ALS2CR19, PAR3B, PAR3L, PAR3beta
• Gene name: par-3 family cell polarity regulator beta
• Alternate names: partitioning defective 3 homolog B, 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,
• Gene location: 2q33.3 (43601091: 43707395)     Exons: 26     NC_000005.10

Protein Summary

• Protein general information: Q8TEW8  
  • Name: Partitioning defective 3 homolog B (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 19 protein) (PAR3 beta) (Partitioning defective 3 like protein) (PAR3 L protein)
  • Length: 1205  
  • Mass: 132494
  • 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.
• Sequence:

  MKVTVCFGRTGIVVPCKEGQLRVGELTQQALQRYLKTREKGPGYWVKIHHLEYTDGGILDPDDVLADVVEDKDKL
  IAVFEEQEPLHKIESPSGNPADRQSPDAFETEVAAQLAAFKPIGGEIEVTPSALKLGTPLLVRRSSDPVPGPPAD
  TQPSASHPGGQSLKLVVPDSTQNLEDREVLNGVQTELLTSPRTKDTLSDMTRTVEISGEGGPLGIHVVPFFSSLS
  GRILGLFIRGIEDNSRSKREGLFHENECIVKINNVDLVDKTFAQAQDVFRQAMKSPSVLLHVLPPQNREQYEKSV
  IGSLNIFGNNDGVLKTKVPPPVHGKSGLKTANLTGTDSPETDASASLQQNKSPRVPRLGGKPSSPSLSPLMGFGS
  NKNAKKIKIDLKKGPEGLGFTVVTRDSSIHGPGPIFVKNILPKGAAIKDGRLQSGDRILEVNGRDVTGRTQEELV
  AMLRSTKQGETASLVIARQEGHFLPRELKGEPDCCALSLETSEQLTFEIPLNDSGSAGLGVSLKGNKSRETGTDL
  GIFIKSIIHGGAAFKDGRLRMNDQLIAVNGESLLGKSNHEAMETLRRSMSMEGNIRGMIQLVILRRPERPMEDPA
  ECGAFSKPCFENCQNAVTTSRRNDNSILHPLGTCSPQDKQKGLLLPNDGWAESEVPPSPTPHSALGLGLEDYSHS
  SGVDSAVYFPDQHINFRSVTPARQPESINLKASKSMDLVPDESKVHSLAGQKSESPSKDFGPTLGLKKSSSLESL
  QTAVAEVRKNDLPFHRPRPHMVRGRGCNESFRAAIDKSYDGPEEIEADGLSDKSSHSGQGALNCESAPQGNSELE
  DMENKARKVKKTKEKEKKKEKGKLKVKEKKRKEENEDPERKIKKKGFGAMLRFGKKKEDKGGKAEQKGTLKHGGL
  REEELEKMKEERERIGAKHQELREKQARGLLDYATGAIGSVYDMDDDEMDPNYARVNHFREPCTSANVFRSPSPP
  RAGPFGYPRDGHPLSPERDHLEGLYAKVNKPYHPLVPADSGRPTGGSTDRIQKLRKEYYQARREGFPLYEDDEGR
  ARPSEYDLLWVPGRGPDGNAHNLRFEGMERQYASLPRGGPADPVDYLPAAPRGLYKERELPYYPGAHPMHPPKGS
  YPRPTELRVADLRYPQHYPPPPAPQHKGPFRQDVPPSPPQHQRMPAYQETGRPGPRGGSPDQYPYRTQDSRQKNP
  MTAAV

• Structural information:
  • Protein Domains: (201..28-)
    (/note="PDZ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (383..46-)
    (/note="PDZ-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (498..58-)
    (/note="PDZ-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143"-)
  • Interpro: IPR021922  IPR001478  IPR036034  
  • Prosite: PS50106
  • DIP: 42276
  • STRING: ENSP00000351618
• Other Databases: GeneCards:  PARD3B  Malacards:  PARD3B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051660	establishment of centrosome localization	IBA	biological process
GO:0043296	apical junction complex	IBA	cellular component
GO:0030010	establishment of cell polarity	IBA	biological process
GO:0005938	cell cortex	IBA	cellular component
GO:0005912	adherens junction	IBA	cellular component
GO:0045197	establishment or maintenance of epithelial cell apical/basal polarity	IBA	biological process
GO:0035091	phosphatidylinositol binding	IBA	molecular function
GO:0016324	apical plasma membrane	IBA	cellular component
GO:0008104	protein localization	IBA	biological process
GO:0007155	cell adhesion	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0000226	microtubule cytoskeleton organization	IBA	biological process
GO:0051301	cell division	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0012505	endomembrane system	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray