• Gene id: 91624

Gene Summary

• Gene Symbol: NEXN   Gene   UCSC   Ensembl
• Aliases: CMH20, NELIN
• Gene name: nexilin F-actin binding protein
• Alternate names: nexilin,
• Gene location: 1p31.1 (64049638: 64047581)     Exons: 2     NC_000020.11
• Gene summary(Entrez): This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been desc
• OMIM: 613121

Protein Summary

• Protein general information: Q0ZGT2  
  • Name: Nexilin (F actin binding protein) (Nelin)
  • Length: 675  
  • Mass: 80658
  • Tissue specificity: Abundantly expressed in heart and skeletal muscle, and at lower levels in placenta, lung, liver and pancreas. Also expressed in HeLaS3 and MOLT-4 cell lines. {ECO
• Sequence:

  MNDISQKAEILLSSSKPVPKTYVPKLGKGDVKDKFEAMQRAREERNQRRSRDEKQRRKEQYIREREWNRRKQEIK
  EMLASDDEEDVSSKVEKAYVPKLTGTVKGRFAEMEKQRQEEQRKRTEEERKRRIEQDMLEKRKIQRELAKRAEQI
  EDINNTGTESASEEGDDSLLITVVPVKSYKTSGKMKKNFEDLEKEREEKERIKYEEDKRIRYEEQRPSLKEAKCL
  SLVMDDEIESEAKKESLSPGKLKLTFEELERQRQENRKKQAEEEARKRLEEEKRAFEEARRQMVNEDEENQDTAK
  IFKGYRPGKLKLSFEEMERQRREDEKRKAEEEARRRIEEEKKAFAEARRNMVVDDDSPEMYKTISQEFLTPGKLE
  INFEELLKQKMEEEKRRTEEERKHKLEMEKQEFEQLRQEMGEEEEENETFGLSREYEELIKLKRSGSIQAKNLKS
  KFEKIGQLSEKEIQKKIEEERARRRAIDLEIKEREAENFHEEDDVDVRPARKSEAPFTHKVNMKARFEQMAKARE
  EEEQRRIEEQKLLRMQFEQREIDAALQKKREEEEEEEGSIMNGSTAEDEEQTRSGAPWFKKPLKNTSVVDSEPVR
  FTVKVTGEPKPEITWWFEGEILQDGEDYQYIERGETYCLYLPETFPEDGGEYMCKAVNNKGSAASTCILTIESKN

• Structural information:
  • Protein Domains: (582..67-)
    (/note="Ig-like-)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR013098  IPR003599  
  • Prosite: PS50835
  • STRING: ENSP00000333938
• Other Databases: GeneCards:  NEXN  Malacards:  NEXN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IBA	biological process
GO:0007411	axon guidance	IBA	biological process
GO:0098632	cell-cell adhesion mediator activity	IBA	molecular function
GO:0030424	axon	IBA	cellular component
GO:0070593	dendrite self-avoidance	IBA	biological process
GO:0030018	Z disc	ISS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0009617	response to bacterium	IEA	biological process
GO:0030018	Z disc	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0030334	regulation of cell migration	IDA	biological process
GO:0051015	actin filament binding	IDA	molecular function
GO:0008307	structural constituent of muscle	IMP	molecular function
GO:0051493	regulation of cytoskeleton organization	IEP	biological process
GO:0005925	focal adhesion	HDA	cellular component

Diseases

Associated diseases	References
Dilated cardiomyopathy	KEGG:H00294
Dilated cardiomyopathy	KEGG:H00294
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)