• Gene id: 8572

Gene Summary

• Gene Symbol: PDLIM4   Gene   UCSC   Ensembl
• Aliases: RIL
• Gene name: PDZ and LIM domain 4
• Alternate names: PDZ and LIM domain protein 4, LIM domain protein, LIM protein RIL, enigma homolog, reversion-induced LIM protein,
• Gene location: 5q31.1 (132257657: 132273453)     Exons: 7     NC_000005.10
• Gene summary(Entrez): This gene encodes a protein which may be involved in bone development. Mutations in this gene are associated with susceptibility to osteoporosis. [provided by RefSeq, Nov 2009]
• OMIM: 605813

Protein Summary

• Protein general information: P50479  
  • Name: PDZ and LIM domain protein 4 (LIM protein RIL) (Reversion induced LIM protein)
  • Length: 330  
  • Mass: 35398
  • Tissue specificity: [Isoform 2]
• Sequence:

  MPHSVTLRGPSPWGFRLVGGRDFSAPLTISRVHAGSKAALAALCPGDLIQAINGESTELMTHLEAQNRIKGCHDH
  LTLSVSRPEGRSWPSAPDDSKAQAHRIHIDPEIQDGSPTTSRRPSGTGTGPEDGRPSLGSPYGQPPRFPVPHNGS
  SEATLPAQMSTLHVSPPPSADPARGLPRSRDCRVDLGSEVYRMLREPAEPVAAEPKQSGSFRYLQGMLEAGEGGD
  WPGPGGPRNLKPTASKLGAPLSGLQGLPECTRCGHGIVGTIVKARDKLYHPECFMCSDCGLNLKQRGYFFLDERL
  YCESHAKARVKPPEGYDVVAVYPNAKVELV

• Structural information:
  • Protein Domains: (1..8-)
    (/note="PDZ-)
    ECO:0000269|PubMed:25158098 (/evidence="ECO:0000244|PDB:4Q2O,-ECO:0000255|PROSITE-ProRule:PRU00143,)
    (253..31-)
    (/note="LIM-zinc-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00125"-)
  • Interpro: IPR031847  IPR001478  IPR036034  IPR001781  
  • Prosite: PS00478 PS50023 PS50106
  • PDB: 2EEG 2V1W 4Q2O
  • PDBsum: 2EEG 2V1W 4Q2O
  • STRING: ENSP00000253754
• Other Databases: GeneCards:  PDLIM4  Malacards:  PDLIM4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IBA	molecular function
GO:0005912	adherens junction	IBA	cellular component
GO:0030036	actin cytoskeleton organization	IBA	biological process
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:0043005	neuron projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019903	protein phosphatase binding	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0055038	recycling endosome membrane	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098976	excitatory chemical synaptic transmission	ISS	biological process
GO:0031905	early endosome lumen	ISS	cellular component
GO:0001725	stress fiber	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0051393	alpha-actinin binding	IPI	molecular function
GO:0030027	lamellipodium	IDA	cellular component
GO:0031941	filamentous actin	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0034777	recycling endosome lumen	ISS	cellular component
GO:0005856	cytoskeleton	IDA	cellular component
GO:0019903	protein phosphatase binding	IPI	molecular function
GO:0043197	dendritic spine	ISS	cellular component
GO:0045211	postsynaptic membrane	ISS	cellular component
GO:0031532	actin cytoskeleton reorganization	IDA	biological process

Diseases

Associated diseases	References
Osteoporosis	KEGG:H01593
Osteoporosis	KEGG:H01593
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
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