Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NEXN Gene

Aliases for NEXN Gene

  • Nexilin (F Actin Binding Protein) 2 3
  • NELIN 3 4 6
  • CMH20 3 6
  • F-Actin-Binding Protein 4
  • Nexilin 3
  • CMD1CC 6

External Ids for NEXN Gene

Summaries for NEXN Gene

Entrez Gene Summary for NEXN Gene

  • 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 described.[provided by RefSeq, Feb 2010]

GeneCards Summary for NEXN Gene

NEXN (Nexilin (F Actin Binding Protein)) is a Protein Coding gene. Diseases associated with NEXN include cardiomyopathy, dilated, 1cc and nexn-related dilated cardiomyopathy. GO annotations related to this gene include actin filament binding and structural constituent of muscle.

UniProtKB/Swiss-Prot for NEXN Gene

  • Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential role in the maintenance of Z line and sarcomere integrity.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NEXN Gene

Genomics for NEXN Gene

Genomic Location for NEXN Gene

Start:
77,888,513 bp from pter
End:
77,946,324 bp from pter
Size:
57,812 bases
Orientation:
Plus strand

Genomic View for NEXN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NEXN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NEXN Gene

Regulatory Elements for NEXN Gene

Proteins for NEXN Gene

  • Protein details for NEXN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0ZGT2-NEXN_HUMAN
    Recommended name:
    Nexilin
    Protein Accession:
    Q0ZGT2
    Secondary Accessions:
    • A0PJ84
    • B4DPZ7
    • Q0D2H2
    • Q14CC2
    • Q14CC3
    • Q16081
    • Q7Z2X0
    • Q96DL0
    • Q9Y2V1

    Protein attributes for NEXN Gene

    Size:
    675 amino acids
    Molecular mass:
    80658 Da
    Quaternary structure:
    • Interacts with F-actin.
    SequenceCaution:
    • Sequence=AAH17827.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH55084.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH55084.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAI11396.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI14445.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI14446.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB71622.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for NEXN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NEXN Gene

Proteomics data for NEXN Gene at MOPED

Post-translational modifications for NEXN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NEXN Gene

No data available for DME Specific Peptides for NEXN Gene

Domains for NEXN Gene

Gene Families for NEXN Gene

HGNC:
  • ISET :Immunoglobulin superfamily / I-set domain containing

Protein Domains for NEXN Gene

UniProtKB/Swiss-Prot:

NEXN_HUMAN
Domain:
  • Contains 1 Ig-like (immunoglobulin-like) domain.:
    • Q0ZGT2
genes like me logo Genes that share domains with NEXN: view

Function for NEXN Gene

Molecular function for NEXN Gene

UniProtKB/Swiss-Prot Function: Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential role in the maintenance of Z line and sarcomere integrity.

Gene Ontology (GO) - Molecular Function for NEXN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004683 calmodulin-dependent protein kinase activity IBA --
GO:0005515 protein binding --
GO:0008307 structural constituent of muscle IMP 19881492
GO:0051015 actin filament binding IDA 15823560
genes like me logo Genes that share ontologies with NEXN: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for NEXN Gene

Localization for NEXN Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEXN Gene

Cytoplasm, cytoskeleton. Cell junction, adherens junction. Cytoplasm, myofibril, sarcomere, Z line. Note=Localizes to the cell-matrix AJ. Not found at the cell-cell AJ (By similarity). {ECO:0000250 UniProtKB:Q9Z2J4, ECO:0000269 PubMed:15823560}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NEXN Gene COMPARTMENTS Subcellular localization image for NEXN gene
Compartment Confidence
cytosol 3
cytoskeleton 2
nucleus 2
plasma membrane 2
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NEXN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton IEA --
GO:0005924 cell-substrate adherens junction --
GO:0005925 focal adhesion IDA 21423176
GO:0030018 Z disc ISS --
genes like me logo Genes that share ontologies with NEXN: view

Pathways for NEXN Gene

SuperPathways for NEXN Gene

No Data Available

Gene Ontology (GO) - Biological Process for NEXN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IBA --
GO:0030334 regulation of cell migration IDA 15823560
GO:0042981 NOT regulation of apoptotic process IBA --
GO:0048739 cardiac muscle fiber development IBA --
GO:0051493 regulation of cytoskeleton organization IEP 15823560
genes like me logo Genes that share ontologies with NEXN: view

No data available for Pathways by source for NEXN Gene

Transcripts for NEXN Gene

Unigene Clusters for NEXN Gene

Nexilin (F actin binding protein):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NEXN Gene

No ASD Table

Relevant External Links for NEXN Gene

GeneLoc Exon Structure for
NEXN
ECgene alternative splicing isoforms for
NEXN

Expression for NEXN Gene

mRNA expression in normal human tissues for NEXN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NEXN Gene

This gene is overexpressed in Muscle - Skeletal (9.0), Heart - Left Ventricle (7.6), and Heart - Atrial Appendage (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NEXN Gene

SOURCE GeneReport for Unigene cluster for NEXN Gene Hs.612385

mRNA Expression by UniProt/SwissProt for NEXN Gene

Q0ZGT2-NEXN_HUMAN
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.
genes like me logo Genes that share expressions with NEXN: view

Orthologs for NEXN Gene

This gene was present in the common ancestor of chordates.

Orthologs for NEXN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NEXN 36
  • 99.6 (n)
  • 99.11 (a)
NEXN 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NEXN 36
  • 93.21 (n)
  • 93.76 (a)
NEXN 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NEXN 36
  • 93.21 (n)
  • 95.1 (a)
NEXN 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nexn 36
  • 87.55 (n)
  • 88.78 (a)
Nexn 16
Nexn 37
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NEXN 37
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NEXN 37
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nexn 36
  • 86.76 (n)
  • 86.96 (a)
chicken
(Gallus gallus)
Aves NEXN 36
  • 66.45 (n)
  • 62.32 (a)
NEXN 37
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NEXN 37
  • 79 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16131 36
zebrafish
(Danio rerio)
Actinopterygii nexn 37
  • 52 (a)
OneToOne
Species with no ortholog for NEXN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NEXN Gene

ENSEMBL:
Gene Tree for NEXN (if available)
TreeFam:
Gene Tree for NEXN (if available)

Paralogs for NEXN Gene

Selected SIMAP similar genes for NEXN Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with NEXN: view

No data available for Paralogs for NEXN Gene

Variants for NEXN Gene

Sequence variations from dbSNP and Humsavar for NEXN Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1166696 -- 77,924,705(+) CTCAC(A/C)CTGGA intron-variant
rs1166697 -- 77,924,744(+) AGCCT(C/G/T)AACCT intron-variant
rs1166698 Benign, - 77,926,761(+) CTCCC(A/G)GAAAA missense, reference, intron-variant
rs1166699 -- 77,927,182(+) AGGCA(C/T)GAGAA intron-variant
rs1166700 -- 77,927,936(+) GTTAA(C/T)TATTA intron-variant

Relevant External Links for NEXN Gene

HapMap Linkage Disequilibrium report
NEXN
Human Gene Mutation Database (HGMD)
NEXN

No data available for Structural Variations from Database of Genomic Variants (DGV) for NEXN Gene

Disorders for NEXN Gene

(2) OMIM Diseases for NEXN Gene (613121)

UniProtKB/Swiss-Prot

NEXN_HUMAN
  • Cardiomyopathy, dilated 1CC (CMD1CC) [MIM:613122]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:19881492}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, familial hypertrophic 20 (CMH20) [MIM:613876]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:20970104}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NEXN

Genetic Association Database (GAD)
NEXN
Human Genome Epidemiology (HuGE) Navigator
NEXN
genes like me logo Genes that share disorders with NEXN: view

Publications for NEXN Gene

  1. Molecular cloning of NELIN, a putative human cytoskeleton regulation gene. (PMID: 12053183) Zhao Y. … Ding J.-F. (Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao 2001) 2 3 4
  2. NELIN, a new F-actin associated protein, stimulates HeLa cell migration and adhesion. (PMID: 15823560) Wang W. … Hui R. (Biochem. Biophys. Res. Commun. 2005) 3 4 23
  3. Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. (PMID: 19881492) Hassel D. … Rottbauer W. (Nat. Med. 2009) 3 4 23
  4. Muscle autoantigens in thyroid associated ophthalmopathy: the limits of molecular genetics. (PMID: 8227983) Elisei R. … Ludgate M. (J. Endocrinol. Invest. 1993) 2 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49

Products for NEXN Gene

Sources for NEXN Gene

Back to Top

Content