• Gene id: 163183

Gene Summary

• Gene Symbol: SYNE4   Gene   UCSC   Ensembl
• Aliases: C19orf46, DFNB76, KASH4, Nesp4
• Gene name: spectrin repeat containing nuclear envelope family member 4
• Alternate names: nesprin-4, KASH domain-containing protein 4, deafness, autosomal recessive 76, nuclear envelope spectrin repeat protein 4,
• Gene location: 19q13.12 (36008812: 36003306)     Exons: 8     NC_000019.10
• Gene summary(Entrez): This gene is a member of the nesprin family of genes, that encode KASH (Klarsicht, Anc-1, Syne Homology) domain-containing proteins. In addition to the KASH domain, this protein also contains a coiled-coil and leucine zipper region, a spectrin repeat, and
• OMIM: 605163

Protein Summary

• Protein general information: Q8N205  
  • Name: Nesprin 4 (KASH domain containing protein 4) (KASH4) (Nuclear envelope spectrin repeat protein 4)
  • Length: 404  
  • Mass: 43512
• Sequence:

  MALSLPLGPRLGSEPLNHPPGAPREADIVGCTVCPASGEESTSPEQAQTLGQDSLGPPEHFQGGPRGNEPAAHPP
  RWSTPSSYEDPAGGKHCEHPISGLEVLEAEQNSLHLCLLGLGRRLQDLEQGLGHWALAQSGMVQLQALQVDLRGA
  AERVEALLAFGEGLAQRSEPRAWAALEQILRALGAYRDSIFRRLWQLQAQLVSYSLVFEEANTLDQDLEVEGDSD
  WPGPGGVWGPWAPSSLPTSTELEWDPAGDIGGLGPLGQKTARTLGVPCELCGQRGPQGRGQGLEEADTSHSRQDM
  LESGLGHQKRLARHQRHSLLRKPQDKKRQASPHLQDVRLEGNPGAPDPASRQPLTFLLILFLLFLLLVGAMFLLP
  ASGGPCCSHARIPRTPYLVLSYVNGLPPV

• Structural information:
  • Protein Domains: (347..40-)
    (/note="KASH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00385"-)
  • Interpro: IPR012315  IPR030268  
  • Prosite: PS51049
  • STRING: ENSP00000316130
• Other Databases: GeneCards:  SYNE4  Malacards:  SYNE4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045198	establishment of epithelial cell apical/basal polarity	IBA	biological process
GO:0031309	integral component of nuclear outer membrane	IBA	cellular component
GO:0045198	establishment of epithelial cell apical/basal polarity	ISS	biological process
GO:0031309	integral component of nuclear outer membrane	ISS	cellular component
GO:0034993	meiotic nuclear membrane microtubule tethering complex	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	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: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: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: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: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: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: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: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: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: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: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: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:0045198	establishment of epithelial cell apical/basal polarity	IEA	biological process
GO:0031309	integral component of nuclear outer membrane	IEA	cellular component
GO:0005640	nuclear outer membrane	IEA	cellular component

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

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