• Gene id: 64236

Gene Summary

• Gene Symbol: PDLIM2   Gene   UCSC   Ensembl
• Aliases: MYSTIQUE, SLIM
• Gene name: PDZ and LIM domain 2
• Alternate names: PDZ and LIM domain protein 2,
• Gene location: 8p21.3 (22578740: 22598025)     Exons: 11     NC_000008.11
• Gene summary(Entrez): This gene encodes a member of the ALP subfamily of PDZ-LIM domain proteins. The encoded protein suppresses anchorage-dependent growth and promotes cell migration and adhesion through interactions with the actin cytoskeleton via the PDZ domain. The encoded
• OMIM: 609722

Protein Summary

• Protein general information: Q96JY6  
  • Name: PDZ and LIM domain protein 2 (PDZ LIM protein mystique)
  • Length: 352  
  • Mass: 37459
• Sequence:

  MALTVDVAGPAPWGFRITGGRDFHTPIMVTKVAERGKAKDADLRPGDIIVAINGESAEGMLHAEAQSKIRQSPSP
  LRLQLDRSQATSPGQTNGDSSLEVLATRFQGSVRTYTESQSSLRSSYSSPTSLSPRAGSPFSPPPSSSSLTGEAA
  ISRSFQSLACSPGLPAADRLSYSGRPGSRQAGLGRAGDSAVLVLPPSPGPRSSRPSMDSEGGSLLLDEDSEVFKM
  LQENREGRAAPRQSSSFRLLQEALEAEERGGTPAFLPSSLSPQSSLPASRALATPPKLHTCEKCSTSIANQAVRI
  QEGRYRHPGCYTCADCGLNLKMRGHFWVGDELYCEKHARQRYSAPATLSSRA

• Structural information:
  • Protein Domains: (1..8-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (284..34-)
    (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125"-)
  • Interpro: IPR031847  IPR001478  IPR036034  IPR001781  
  • Prosite: PS00478 PS50023 PS50106
  • PDB: 2PA1 3PDV
  • PDBsum: 2PA1 3PDV
  • STRING: ENSP00000312634
• Other Databases: GeneCards:  PDLIM2  Malacards:  PDLIM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001725	stress fiber	IBA	cellular component
GO:0007507	heart development	IBA	biological process
GO:0030018	Z disc	IBA	cellular component
GO:0031941	filamentous actin	IBA	cellular component
GO:0051371	muscle alpha-actinin binding	IBA	molecular function
GO:0061061	muscle structure development	IBA	biological process
GO:0003779	actin binding	IBA	molecular function
GO:0005912	adherens junction	IBA	cellular component
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male factor infertility	MIK: 29961538
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray